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\n\n \n \n 2024\n \n \n (4)\n \n \n
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\n \n \n\n \n \n \n \n \n Autosomal Dominant Parkinson's Disease Caused by SNCA p.E46K Mutation in a Family with Russian Ancestry.\n \n \n \n\n\n \n Senkevich, K.; Miliukhina, I.; Zhuravlev, A.; Shumilova, M.; Beletskaia, M.; Skvortsova, T.; Yu, E.; Ahmad, J.; Asayesh, F.; Gan‐Or, Z.; Emelyanov, A.; and Pchelina, S.\n\n\n \n\n\n\n Movement Disorders, 39(8): 1424–1425. April 2024.\n \n\n\n\n
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\n\n\n@Article{Senkevich_2024,\n author = {Senkevich, Konstantin and Miliukhina, Irina and Zhuravlev, Alexandr and Shumilova, Maria and Beletskaia, Mariia and Skvortsova, Tatiana and Yu, Eric and Ahmad, Jamil and Asayesh, Farnaz and Gan‐Or, Ziv and Emelyanov, Anton and Pchelina, Sofya},\n journal = {Movement Disorders},\n title = {Autosomal Dominant Parkinson's Disease Caused by SNCA p.E46K Mutation in a Family with Russian Ancestry},\n year = {2024},\n issn = {1531-8257},\n month = apr,\n number = {8},\n pages = {1424--1425},\n volume = {39},\n abstract = {null},\n doi = {10.1002/mds.29821},\n mag_id = {null},\n pmcid = {null},\n pmid = {null},\n publisher = {Wiley},\n}\n\n\n\n null\n
\n\n\n\n \n\n \n \n \n \n \n Dose-Dependent Alterations of Lysosomal Activity and Alpha-Synuclein in Peripheral Blood Monocyte-Derived Macrophages and SH-SY5Y Neuroblastoma Cell Line by upon Inhibition of MTOR Protein Kinase – Assessment of the Prospects of Parkinson’s Disease Therapy.\n \n \n \n\n\n \n Bezrukova, A. I.; Basharova, K. S.; Baydakova, G. V.; Zakharova, E. Y.; N. Pchelina, S.; and Usenko, T. S.\n\n\n \n\n\n\n Biochemistry (Moscow), 89(7): 1300–1312. July 2024.\n \n\n\n\n
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\n\n\n@Article{Bezrukova_2024,\n author = {Bezrukova, Anastasia I. and Basharova, Katerina S. and Baydakova, Galina V. and Zakharova, Ekaterina Y. and N. Pchelina, Sofya and Usenko, Tatiana S.},\n journal = {Biochemistry (Moscow)},\n title = {Dose-Dependent Alterations of Lysosomal Activity and Alpha-Synuclein in Peripheral Blood Monocyte-Derived Macrophages and SH-SY5Y Neuroblastoma Cell Line by upon Inhibition of MTOR Protein Kinase – Assessment of the Prospects of Parkinson’s Disease Therapy},\n year = {2024},\n issn = {1608-3040},\n month = jul,\n number = {7},\n pages = {1300--1312},\n volume = {89},\n abstract = {null},\n doi = {10.1134/s0006297924070113},\n mag_id = {null},\n pmcid = {null},\n pmid = {null},\n publisher = {Pleiades Publishing Ltd},\n}\n\n\n\n null\n
\n\n\n\n \n\n \n \n \n \n \n \n The Effect of p.G2019S Mutation in the LRRK2 Gene on the Activity of Lysosomal Hydrolases and the Clinical Features of Parkinson's Disease Associated with p.N370S Mutation in the GBA1 Gene.\n \n \n \n \n\n\n \n Usenko, T.\n\n\n \n\n\n\n Journal of Integrative Neuroscience, 23(1). 2024.\n 1 cites: https://www.scopus.com/inward/citedby.uri?partnerID=HzOxMe3b&scp=85184344480&origin=inward\n\n\n\n
\n\n\n\n \n \n![\"The](\"//bibbase.org/img/filetypes/link.svg\"\n\t "\\"Paper\\"\n\t")
Paper\n \n \n\n \n \n doi\n \n \n\n \n link\n \n \n\n bibtex\n \n\n \n\n \n\n \n \n \n \n \n \n \n\n \n \n \n\n\n\n
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\n\n\n\n@Article{Usenko2024,\n author = {T.S. Usenko},\n journal = {Journal of Integrative Neuroscience},\n title = {The Effect of p.G2019S Mutation in the LRRK2 Gene on the Activity of Lysosomal Hydrolases and the Clinical Features of Parkinson's Disease Associated with p.N370S Mutation in the GBA1 Gene},\n year = {2024},\n issn = {0219-6352},\n note = {1 cites: https://www.scopus.com/inward/citedby.uri?partnerID=HzOxMe3b\\&scp=85184344480\\&origin=inward},\n number = {1},\n volume = {23},\n citation = {https://api.elsevier.com/content/abstract/scopus_id/85184344480},\n doi = {10.31083/j.jin2301016},\n type = {Article},\n url = {https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b\\&scp=85184344480\\&origin=inward},\n}\n\n\n\n \n\n \n \n \n \n \n \n Extracellular Vesicles Secreted by Adipose Tissue during Obesity and Type 2 Diabetes Mellitus Influence Reverse Cholesterol Transport-Related Gene Expression in Human Macrophages.\n \n \n \n \n\n\n \n Dracheva, K.\n\n\n \n\n\n\n International Journal of Molecular Sciences, 25(12). 2024.\n Query date: 2024-10-28 12:52:48\n\n\n\n
\n\n\n\n \n \nPaper\n \n \n\n \n \n doi\n \n \n\n \n link\n \n \n\n bibtex\n \n\n \n\n \n\n \n \n \n \n \n \n \n\n \n \n \n\n\n\n
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\n\n\n\n@Article{Dracheva2024,\n author = {K.V. Dracheva},\n journal = {International Journal of Molecular Sciences},\n title = {Extracellular Vesicles Secreted by Adipose Tissue during Obesity and Type 2 Diabetes Mellitus Influence Reverse Cholesterol Transport-Related Gene Expression in Human Macrophages},\n year = {2024},\n issn = {1661-6596},\n note = {Query date: 2024-10-28 12:52:48},\n number = {12},\n volume = {25},\n citation = {https://api.elsevier.com/content/abstract/scopus_id/85197251962},\n doi = {10.3390/ijms25126457},\n type = {Article},\n url = {https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b\\&scp=85197251962\\&origin=inward},\n}\n\n\n\n
\n\n \n \n 2023\n \n \n (6)\n \n \n
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\n \n \n\n \n \n \n \n \n Cryo-electron microscopy of adipose tissue extracellular vesicles in obesity and type 2 diabetes mellitus.\n \n \n \n\n\n \n Miroshnikova, V. V.; Dracheva, K. V.; Kamyshinsky, R. A.; Yastremsky, E. V.; Garaeva, L. A.; Pobozheva, I. A.; Landa, S. B.; Anisimova, K. A.; Balandov, S. G.; Hamid, Z. M.; Vasilevsky, D. I.; Pchelina, S. N.; Konevega, A. L.; and Shtam, T. A.\n\n\n \n\n\n\n PLOS ONE, 18(2): e0279652. February 2023.\n \n\n\n\n
\n\n\n\n \n\n \n \n doi\n \n \n\n \n link\n \n \n\n bibtex\n \n\n \n \n \n abstract \n \n\n \n\n \n \n \n \n \n \n \n\n \n \n \n\n\n\n
\n\n\n \n\n\n\n \n\n \n \n doi\n \n \n\n \n link\n \n \n\n bibtex\n \n\n \n \n \n abstract \n \n\n \n\n \n \n \n \n \n \n \n\n \n \n \n\n\n\n
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\n\n\n@Article{Miroshnikova_2023,\n author = {Miroshnikova, Valentina V. and Dracheva, Kseniya V. and Kamyshinsky, Roman A. and Yastremsky, Evgeny V. and Garaeva, Luiza A. and Pobozheva, Irina A. and Landa, Sergey B. and Anisimova, Kristina A. and Balandov, Stanislav G. and Hamid, Zarina M. and Vasilevsky, Dmitriy I. and Pchelina, Sofya N. and Konevega, Andrey L. and Shtam, Tatiana A.},\n journal = {PLOS ONE},\n title = {Cryo-electron microscopy of adipose tissue extracellular vesicles in obesity and type 2 diabetes mellitus},\n year = {2023},\n issn = {1932-6203},\n month = feb,\n number = {2},\n pages = {e0279652},\n volume = {18},\n abstract = {Extracellular vesicles (EVs) are cell-derived membrane vesicles which play an important role in cell-to-cell communication and physiology. EVs deliver biological information from producing to recipient cells by transport of different cargo such as proteins, mRNAs, microRNAs, non-coding RNAs and lipids. Adipose tissue EVs could regulate metabolic and inflammatory interactions inside adipose tissue depots as well as distal tissues. Thus, adipose tissue EVs are assumed to be implicated in obesity-associated pathologies, notably in insulin resistance and type 2 diabetes mellitus (T2DM). In this study we for the first time characterize EVs secreted by visceral (VAT) and subcutaneous adipose tissue (SAT) of patients with obesity and T2DM with standard methods as well as analyze their morphology with cryo-electron microscopy. Cryo-electron microscopy allowed us to visualize heterogeneous population of EVs of various size and morphology including single EVs and EVs with internal membrane structures in samples from obese patients as well from the control group. Single vesicles prevailed (up to 85% for SAT, up to 75% for VAT) and higher proportion of EVs with internal membrane structures compared to SAT was typical for VAT. Decreased size of single and double SAT EVs compared to VAT EVs, large proportion of multilayered EVs and all EVs with internal membrane structures secreted by VAT distinguished obese patients with/without T2DM from the control group. These findings could support the idea of modified biogenesis of EVs during obesity and T2DM.},\n doi = {10.1371/journal.pone.0279652},\n editor = {Nemoto, Takahiro},\n mag_id = {4321749083},\n pmcid = {null},\n pmid = {36827314},\n publisher = {Public Library of Science (PLoS)},\n}\n\n\n\n Extracellular vesicles (EVs) are cell-derived membrane vesicles which play an important role in cell-to-cell communication and physiology. EVs deliver biological information from producing to recipient cells by transport of different cargo such as proteins, mRNAs, microRNAs, non-coding RNAs and lipids. Adipose tissue EVs could regulate metabolic and inflammatory interactions inside adipose tissue depots as well as distal tissues. Thus, adipose tissue EVs are assumed to be implicated in obesity-associated pathologies, notably in insulin resistance and type 2 diabetes mellitus (T2DM). In this study we for the first time characterize EVs secreted by visceral (VAT) and subcutaneous adipose tissue (SAT) of patients with obesity and T2DM with standard methods as well as analyze their morphology with cryo-electron microscopy. Cryo-electron microscopy allowed us to visualize heterogeneous population of EVs of various size and morphology including single EVs and EVs with internal membrane structures in samples from obese patients as well from the control group. Single vesicles prevailed (up to 85% for SAT, up to 75% for VAT) and higher proportion of EVs with internal membrane structures compared to SAT was typical for VAT. Decreased size of single and double SAT EVs compared to VAT EVs, large proportion of multilayered EVs and all EVs with internal membrane structures secreted by VAT distinguished obese patients with/without T2DM from the control group. These findings could support the idea of modified biogenesis of EVs during obesity and T2DM.\n
\n\n\n\n \n\n \n \n \n \n \n Potential Binding Sites of Pharmacological Chaperone NCGC00241607 on Mutant β-Glucocerebrosidase and Its Efficacy on Patient-Derived Cell Cultures in Gaucher and Parkinson’s Disease.\n \n \n \n\n\n \n Kopytova, A. E.; Rychkov, G. N.; Cheblokov, A. A.; Grigor’eva, E. V.; Nikolaev, M. A.; Yarkova, E. S.; Sorogina, D. A.; Ibatullin, F. M.; Baydakova, G. V.; Izyumchenko, A. D.; Bogdanova, D. A.; Boitsov, V. M.; Rybakov, A. V.; Miliukhina, I. V.; Bezrukikh, V. A.; Salogub, G. N.; Zakharova, E. Y.; Pchelina, S. N.; and Emelyanov, A. K.\n\n\n \n\n\n\n International Journal of Molecular Sciences, 24(10): 9105. May 2023.\n \n\n\n\n
\n\n\n\n \n\n \n \n doi\n \n \n\n \n link\n \n \n\n bibtex\n \n\n \n \n \n abstract \n \n\n \n\n \n \n \n \n \n \n \n\n \n \n \n\n\n\n
\n\n\n \n\n\n\n \n\n \n \n doi\n \n \n\n \n link\n \n \n\n bibtex\n \n\n \n \n \n abstract \n \n\n \n\n \n \n \n \n \n \n \n\n \n \n \n\n\n\n
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\n\n\n@Article{Kopytova_2023,\n author = {Kopytova, Alena E. and Rychkov, George N. and Cheblokov, Alexander A. and Grigor’eva, Elena V. and Nikolaev, Mikhail A. and Yarkova, Elena S. and Sorogina, Diana A. and Ibatullin, Farid M. and Baydakova, Galina V. and Izyumchenko, Artem D. and Bogdanova, Daria A. and Boitsov, Vitali M. and Rybakov, Akim V. and Miliukhina, Irina V. and Bezrukikh, Vadim A. and Salogub, Galina N. and Zakharova, Ekaterina Y. and Pchelina, Sofya N. and Emelyanov, Anton K.},\n journal = {International Journal of Molecular Sciences},\n title = {Potential Binding Sites of Pharmacological Chaperone NCGC00241607 on Mutant β-Glucocerebrosidase and Its Efficacy on Patient-Derived Cell Cultures in Gaucher and Parkinson’s Disease},\n year = {2023},\n issn = {1422-0067},\n month = may,\n number = {10},\n pages = {9105},\n volume = {24},\n abstract = {Mutations in the GBA1 gene, encoding the lysosomal enzyme glucocerebrosidase (GCase), cause Gaucher disease (GD) and are the most common genetic risk factor for Parkinson's disease (PD). Pharmacological chaperones (PCs) are being developed as an alternative treatment approach for GD and PD. To date, NCGC00241607 (NCGC607) is one of the most promising PCs. Using molecular docking and molecular dynamics simulation we identified and characterized six allosteric binding sites on the GCase surface suitable for PCs. Two sites were energetically more preferable for NCGC607 and located nearby to the active site of the enzyme. We evaluated the effects of NCGC607 treatment on GCase activity and protein levels, glycolipids concentration in cultured macrophages from GD (n = 9) and GBA-PD (n = 5) patients as well as in induced human pluripotent stem cells (iPSC)-derived dopaminergic (DA) neurons from GBA-PD patient. The results showed that NCGC607 treatment increased GCase activity (by 1.3-fold) and protein levels (by 1.5-fold), decreased glycolipids concentration (by 4.0-fold) in cultured macrophages derived from GD patients and also enhanced GCase activity (by 1.5-fold) in cultured macrophages derived from GBA-PD patients with N370S mutation (p < 0.05). In iPSC-derived DA neurons from GBA-PD patients with N370S mutation NCGC607 treatment increased GCase activity and protein levels by 1.1-fold and 1.7-fold (p < 0.05). Thus, our results showed that NCGC607 could bind to allosteric sites on the GCase surface and confirmed its efficacy on cultured macrophages from GD and GBA-PD patients as well as on iPSC-derived DA neurons from GBA-PD patients.},\n doi = {10.3390/ijms24109105},\n mag_id = {4378087322},\n pmcid = {null},\n pmid = {37240451},\n publisher = {MDPI AG},\n}\n\n\n\n Mutations in the GBA1 gene, encoding the lysosomal enzyme glucocerebrosidase (GCase), cause Gaucher disease (GD) and are the most common genetic risk factor for Parkinson's disease (PD). Pharmacological chaperones (PCs) are being developed as an alternative treatment approach for GD and PD. To date, NCGC00241607 (NCGC607) is one of the most promising PCs. Using molecular docking and molecular dynamics simulation we identified and characterized six allosteric binding sites on the GCase surface suitable for PCs. Two sites were energetically more preferable for NCGC607 and located nearby to the active site of the enzyme. We evaluated the effects of NCGC607 treatment on GCase activity and protein levels, glycolipids concentration in cultured macrophages from GD (n = 9) and GBA-PD (n = 5) patients as well as in induced human pluripotent stem cells (iPSC)-derived dopaminergic (DA) neurons from GBA-PD patient. The results showed that NCGC607 treatment increased GCase activity (by 1.3-fold) and protein levels (by 1.5-fold), decreased glycolipids concentration (by 4.0-fold) in cultured macrophages derived from GD patients and also enhanced GCase activity (by 1.5-fold) in cultured macrophages derived from GBA-PD patients with N370S mutation (p < 0.05). In iPSC-derived DA neurons from GBA-PD patients with N370S mutation NCGC607 treatment increased GCase activity and protein levels by 1.1-fold and 1.7-fold (p < 0.05). Thus, our results showed that NCGC607 could bind to allosteric sites on the GCase surface and confirmed its efficacy on cultured macrophages from GD and GBA-PD patients as well as on iPSC-derived DA neurons from GBA-PD patients.\n
\n\n\n\n \n\n \n \n \n \n \n Whole Transcriptome Analysis of Substantia Nigra in Mice with MPTP-Induced Parkinsonism Bearing Defective Glucocerebrosidase Activity.\n \n \n \n\n\n \n Usenko, T.; Bezrukova, A.; Rudenok, M. M.; Basharova, K.; Shadrina, M. I.; Slominsky, P. A.; Zakharova, E.; and Pchelina, S.\n\n\n \n\n\n\n International Journal of Molecular Sciences, 24(15): 12164. July 2023.\n \n\n\n\n
\n\n\n\n \n\n \n \n doi\n \n \n\n \n link\n \n \n\n bibtex\n \n\n \n \n \n abstract \n \n\n \n\n \n \n \n \n \n \n \n\n \n \n \n\n\n\n
\n\n\n \n\n\n\n \n\n \n \n doi\n \n \n\n \n link\n \n \n\n bibtex\n \n\n \n \n \n abstract \n \n\n \n\n \n \n \n \n \n \n \n\n \n \n \n\n\n\n
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\n\n\n@Article{Usenko_2023,\n author = {Usenko, Tatiana and Bezrukova, Anastasia and Rudenok, Margarita M. and Basharova, Katerina and Shadrina, Maria I. and Slominsky, Petr A. and Zakharova, Ekaterina and Pchelina, Sofya},\n journal = {International Journal of Molecular Sciences},\n title = {Whole Transcriptome Analysis of Substantia Nigra in Mice with MPTP-Induced Parkinsonism Bearing Defective Glucocerebrosidase Activity},\n year = {2023},\n issn = {1422-0067},\n month = jul,\n number = {15},\n pages = {12164},\n volume = {24},\n abstract = {Mutations in the GBA1 gene represent the major genetic risk factor for Parkinson’s disease (PD). The lysosomal enzyme beta-glucocerebrosidase (GCase) encoded by the GBA1 gene participates in both the endolysosomal pathway and the immune response. Disruption of these mechanisms is involved in PD pathogenesis. However, molecular mechanisms of PD associated with GBA1 mutations (GBA-PD) are unknown today in particular due to the partial penetrance of GBA1 variants in PD. The modifiers of GBA1 penetrance have not been elucidated. We characterized the transcriptomic profiles of cells from the substantia nigra (SN) of mice with co-injection with 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) and selective inhibitor of GCase activity (conduritol-β-epoxide, (CBE)) to mimic PD bearing GCase dysfunction (MPTP+CBE), mice treated with MPTP, mice treated with CBE and control mice treated with injection of sodium chloride (NaCl) (vehicle). Differential expression analysis, pathway enrichment analysis, and outlier detection were performed. Functional clustering of differentially represented transcripts revealed more processes associated with the functioning of neurogenesis, inflammation, apoptosis and autophagy in MPTP+CBE and MPTP mice than in vehicle mice, with a more pronounced alteration of autophagy processes in MPTP+CBE mice than in MPTP mice. The PI3K-Akt-mTOR signaling pathway may be considered a potential target for therapy in PD with GCase dysfunction.},\n doi = {10.3390/ijms241512164},\n mag_id = {4385399720},\n pmcid = {null},\n pmid = {37569538},\n publisher = {MDPI AG},\n}\n\n\n\n Mutations in the GBA1 gene represent the major genetic risk factor for Parkinson’s disease (PD). The lysosomal enzyme beta-glucocerebrosidase (GCase) encoded by the GBA1 gene participates in both the endolysosomal pathway and the immune response. Disruption of these mechanisms is involved in PD pathogenesis. However, molecular mechanisms of PD associated with GBA1 mutations (GBA-PD) are unknown today in particular due to the partial penetrance of GBA1 variants in PD. The modifiers of GBA1 penetrance have not been elucidated. We characterized the transcriptomic profiles of cells from the substantia nigra (SN) of mice with co-injection with 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) and selective inhibitor of GCase activity (conduritol-β-epoxide, (CBE)) to mimic PD bearing GCase dysfunction (MPTP+CBE), mice treated with MPTP, mice treated with CBE and control mice treated with injection of sodium chloride (NaCl) (vehicle). Differential expression analysis, pathway enrichment analysis, and outlier detection were performed. Functional clustering of differentially represented transcripts revealed more processes associated with the functioning of neurogenesis, inflammation, apoptosis and autophagy in MPTP+CBE and MPTP mice than in vehicle mice, with a more pronounced alteration of autophagy processes in MPTP+CBE mice than in MPTP mice. The PI3K-Akt-mTOR signaling pathway may be considered a potential target for therapy in PD with GCase dysfunction.\n
\n\n\n\n \n\n \n \n \n \n \n LRRK2 exonic variants are associated with lysosomal hydrolase activities and lysosphingolipid alterations in Parkinson's disease.\n \n \n \n\n\n \n Usenko, T.; Senkevich, K.; Basharova, K.; Bezrukova, A.; Baydakova, G.; Tyurin, A.; Beletskaya, M.; Kulabukhova, D.; Grunina, M.; Emelyanov, A.; Miliukhina, I.; Timofeeva, A.; Zakharova, E.; and Pchelina, S.\n\n\n \n\n\n\n Gene, 882: 147639. October 2023.\n \n\n\n\n
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\n\n\n@Article{Usenko_2023,\n author = {Usenko, T.S. and Senkevich, K.A. and Basharova, K.S. and Bezrukova, A.I. and Baydakova, G.V. and Tyurin, A.A. and Beletskaya, M.V. and Kulabukhova, D.G. and Grunina, M.N. and Emelyanov, A.K. and Miliukhina, I.V. and Timofeeva, A.A. and Zakharova, E.Y. and Pchelina, S.N.},\n journal = {Gene},\n title = {LRRK2 exonic variants are associated with lysosomal hydrolase activities and lysosphingolipid alterations in Parkinson's disease},\n year = {2023},\n issn = {0378-1119},\n month = oct,\n pages = {147639},\n volume = {882},\n abstract = {null},\n doi = {10.1016/j.gene.2023.147639},\n mag_id = {4384700438},\n pmcid = {null},\n pmid = {37473971},\n publisher = {Elsevier BV},\n}\n\n\n\n null\n
\n\n\n\n \n\n \n \n \n \n \n Fraction of plasma exomeres and low-density lipoprotein cholesterol as a predictor of fatal outcome of COVID-19.\n \n \n \n\n\n \n Usenko, T.; Miroshnikova, V.; Bezrukova, A.; Basharova, K.; Landa, S.; Korobova, Z.; Liubimova, N.; Vlasov, I.; Nikolaev, M.; Izyumchenko, A.; Gavrilova, E.; Shlyk, I.; Chernitskaya, E.; Kovalchuk, Y.; Slominsky, P.; Totolian, A.; Polushin, Y.; and Pchelina, S.\n\n\n \n\n\n\n PLOS ONE, 18(2): e0278083. February 2023.\n \n\n\n\n
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\n\n\n@Article{Usenko_2023,\n author = {Usenko, Tatiana and Miroshnikova, Valentina and Bezrukova, Anastasia and Basharova, Katerina and Landa, Sergey and Korobova, Zoia and Liubimova, Natalia and Vlasov, Ivan and Nikolaev, Mikhael and Izyumchenko, Artem and Gavrilova, Elena and Shlyk, Irina and Chernitskaya, Elena and Kovalchuk, Yurii and Slominsky, Petr and Totolian, Areg and Polushin, Yurii and Pchelina, Sofya},\n journal = {PLOS ONE},\n title = {Fraction of plasma exomeres and low-density lipoprotein cholesterol as a predictor of fatal outcome of COVID-19},\n year = {2023},\n issn = {1932-6203},\n month = feb,\n number = {2},\n pages = {e0278083},\n volume = {18},\n abstract = {Transcriptomic analysis conducted by us previously revealed upregulation of genes involved in low-density lipoprotein particle receptor (LDLR) activity pathway in lethal COVID-19 caused by SARS-CoV-2 virus (severe acute respiratory syndrome coronavirus 2). Last data suggested the possible role of extracellular vesicles in COVID-19 pathogenesis. The aim of the present study was to retrospectively evaluate parameters of cholesterol metabolism and newly identified EVs, exomeres, as possible predictors of fatal outcome of COVID-19 patients infected by the Alpha and the Delta variants of SARS-CoV-2 virus. Blood from 67 patients with severe COVID-19 were collected at the time of admission to the intensive care unit (ICU) and 7 days after admission to the ICU. After 30 days patients were divided into two subgroups according to outcome—34 non-survivors and 33 survivors. This study demonstrated that plasma low- and high-density lipoprotein cholesterol levels (LDL-C and HDL-C) were decreased in non-survivors compared to controls at the time of admission to the ICU. The conjoint fraction of exomeres and LDL particles measured by dynamic light scattering (DLS) was decreased in non-survivors infected by the Alpha and the Delta variants compared to survivors at the time of admission to the ICU. We first showed that reduction of exomeres fraction may be critical in fatal outcome of COVID-19.},\n doi = {10.1371/journal.pone.0278083},\n editor = {Cao, Yi},\n mag_id = {4319656048},\n pmcid = {null},\n pmid = {36758022},\n publisher = {Public Library of Science (PLoS)},\n}\n\n\n\n Transcriptomic analysis conducted by us previously revealed upregulation of genes involved in low-density lipoprotein particle receptor (LDLR) activity pathway in lethal COVID-19 caused by SARS-CoV-2 virus (severe acute respiratory syndrome coronavirus 2). Last data suggested the possible role of extracellular vesicles in COVID-19 pathogenesis. The aim of the present study was to retrospectively evaluate parameters of cholesterol metabolism and newly identified EVs, exomeres, as possible predictors of fatal outcome of COVID-19 patients infected by the Alpha and the Delta variants of SARS-CoV-2 virus. Blood from 67 patients with severe COVID-19 were collected at the time of admission to the intensive care unit (ICU) and 7 days after admission to the ICU. After 30 days patients were divided into two subgroups according to outcome—34 non-survivors and 33 survivors. This study demonstrated that plasma low- and high-density lipoprotein cholesterol levels (LDL-C and HDL-C) were decreased in non-survivors compared to controls at the time of admission to the ICU. The conjoint fraction of exomeres and LDL particles measured by dynamic light scattering (DLS) was decreased in non-survivors infected by the Alpha and the Delta variants compared to survivors at the time of admission to the ICU. We first showed that reduction of exomeres fraction may be critical in fatal outcome of COVID-19.\n
\n\n\n\n \n\n \n \n \n \n \n Altered Sphingolipid Hydrolase Activities and Alpha-Synuclein Level in Late-Onset Schizophrenia.\n \n \n \n\n\n \n Usenko, T.; Bezrukova, A.; Basharova, K.; Baydakova, G.; Shagimardanova, E.; Blatt, N.; Rizvanov, A.; Limankin, O.; Novitskiy, M.; Shnayder, N.; Izyumchenko, A.; Nikolaev, M.; Zabotina, A.; Lavrinova, A.; Kulabukhova, D.; Nasyrova, R.; Palchikova, E.; Zalutskaya, N.; Miliukhina, I.; Barbitoff, Y.; Glotov, O.; Glotov, A.; Taraskina, A.; Neznanov, N.; Zakharova, E.; and Pchelina, S.\n\n\n \n\n\n\n Metabolites, 14(1): 30. December 2023.\n \n\n\n\n
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\n\n\n@Article{Usenko_2023,\n author = {Usenko, Tatiana and Bezrukova, Anastasia and Basharova, Katerina and Baydakova, Galina and Shagimardanova, Elena and Blatt, Nataliya and Rizvanov, Albert and Limankin, Oleg and Novitskiy, Maxim and Shnayder, Natalia and Izyumchenko, Artem and Nikolaev, Mikhail and Zabotina, Anna and Lavrinova, Anna and Kulabukhova, Darya and Nasyrova, Regina and Palchikova, Ekaterina and Zalutskaya, Natalia and Miliukhina, Irina and Barbitoff, Yury and Glotov, Oleg and Glotov, Andrey and Taraskina, Anastasia and Neznanov, Nikolai and Zakharova, Ekaterina and Pchelina, Sofya},\n journal = {Metabolites},\n title = {Altered Sphingolipid Hydrolase Activities and Alpha-Synuclein Level in Late-Onset Schizophrenia},\n year = {2023},\n issn = {2218-1989},\n month = dec,\n number = {1},\n pages = {30},\n volume = {14},\n abstract = {null},\n doi = {10.3390/metabo14010030},\n mag_id = {null},\n pmcid = {null},\n pmid = {null},\n publisher = {MDPI AG},\n}\n\n\n\n null\n
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\n\n \n \n 2022\n \n \n (3)\n \n \n
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\n \n \n\n \n \n \n \n \n Neurofilament light levels predict clinical progression and death in multiple system atrophy.\n \n \n \n\n\n \n Kobylecki, C.; Kobylecki, C.; Kobylecki, C.; Nikram, E.; Nikram, E.; Perez-Soriano, A.; Pérez‐Soriano, A.; Wilke, C.; Wilke, C.; Foubert-Samier, A.; Foubert‐Samier, A.; Vijiaratnam, N.; Vijiaratnam, N.; Guo, T.; Guo, T.; Jabbari, E.; Jabbari, E.; Olufodun, S.; Olufodun, S.; Gonzalez, M.; Gonzalez, M.; Senkevich, K.; Senkevich, K.; Laurens, B.; Laurens, B.; Péran, P.; Péran, P.; Rascol, O.; Rascol, O.; Traon, A. P. L.; Traon, A. P.; Todd, E.; Todd, E.; Costantini, A. A.; Costantini, A.; Alikhwan, S.; Alikhwan, S.; Tariq, A.; Tariq, A.; Ng, B. L.; Ng, B. L.; Muñoz, E.; Muñoz, E.; Painous, C.; Painous, C.; Compta, Y.; Compta, Y.; Junque, C.; Junqué, C.; Segura, B.; Segura, B.; Zhelcheska, K.; Zhelcheska, K.; Wellington, H.; Wellington, H.; Schöls, L.; Schöls, L.; Jaunmuktane, Z.; Jaunmuktane, Z.; Kobylecki, C.; Kobylecki, C.; Church, A.; Church, A.; Hu, M. T M; Hu, M.; Rowe, J. B; Rowe, J. B.; Leigh, P N.; Leigh, P. N.; Massey, L.; Massey, L. A.; Burn, D. J; Burn, D.; Pavese, N.; Pavese, N.; Foltynie, T.; Foltynie, T.; Pchelina, S.; Пчелина, С. Н.; Wood, N.; Wood, N.; Heslegrave, A. J; Heslegrave, A.; Zetterberg, H.; Zetterberg, H.; Bocchetta, M.; Bocchetta, M.; Rohrer, J. D; Rohrer, J. D.; Marti, M. J; Martı́, M. J.; Synofzik, M.; Synofzik, M.; Huw, R. M.; Morris, H. R.; Morris, H. R.; Meissner, W. G; Meissner, W.; Houlden, H.; Houlden, H.; and Houlden, H.\n\n\n \n\n\n\n Brain. 2022.\n \n\n\n\n
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\n\n\n@Article{Kobylecki_2022,\n author = {Christopher Kobylecki and Christopher Kobylecki and Christopher Kobylecki and Elham Nikram and Elham Nikram and Alexandra Perez-Soriano and Alexandra Pérez‐Soriano and Carlo Wilke and Carlo Wilke and Alexandra Foubert-Samier and Alexandra Foubert‐Samier and Nirosen Vijiaratnam and Nirosen Vijiaratnam and Tong Guo and Tong Guo and Edwin Jabbari and Edwin Jabbari and Simisola Olufodun and Simisola Olufodun and Mariel Gonzalez and Mariel Gonzalez and Konstantin Senkevich and Konstantin Senkevich and Brice Laurens and Brice Laurens and Patrice Péran and Patrice Péran and Olivier Rascol and Olivier Rascol and Anne Pavy Le Traon and Anne Pavy-Le Traon and Emily Todd and Emily Todd and Alyssa A. Costantini and Alyssa Costantini and Sondos Alikhwan and Sondos Alikhwan and Ambreen Tariq and Ambreen Tariq and Bai Lin Ng and Bai Lin Ng and Esteban Muñoz and Esteban Muñoz and Celia Painous and Cèlia Painous and Yaroslau Compta and Yaroslau Compta and Carme Junque and Carme Junqué and Barbara Segura and Bàrbara Segura and Kristina Zhelcheska and Kristina Zhelcheska and Henny Wellington and Henrietta Wellington and Ludger Schöls and Ludger Schöls and Zane Jaunmuktane and Zane Jaunmuktane and Christopher Kobylecki and Christopher Kobylecki and Alistair Church and Alistair Church and Michele T M Hu and Michèle Hu and James B Rowe and James B. Rowe and P Nigel Leigh and P. Nigel Leigh and Luke Massey and Luke A. Massey and David J Burn and David Burn and Nicola Pavese and Nicola Pavese and Thomas Foltynie and Tom Foltynie and Sofya Pchelina and С. Н. Пчелина and Nicholas Wood and Nicholas Wood and Amanda J Heslegrave and Amanda Heslegrave and Henrik Zetterberg and Henrik Zetterberg and Martina Bocchetta and Martina Bocchetta and Jonathan D Rohrer and Jonathan D. Rohrer and Maria J Marti and Marı́a José Martı́ and Matthis Synofzik and Matthis Synofzik and R. Morris Huw and Huw R. Morris and Huw R. Morris and Wassilios G Meissner and Wassilios Meissner and H. Houlden and Henry Houlden and Henry Houlden},\n journal = {Brain},\n title = {Neurofilament light levels predict clinical progression and death in multiple system atrophy},\n year = {2022},\n abstract = {Disease-modifying treatments are currently being trialed in multiple system atrophy (MSA). Approaches based solely on clinical measures are challenged by heterogeneity of phenotype and pathogenic complexity. Neurofilament light chain protein has been explored as a reliable biomarker in several neurodegenerative disorders but data in multiple system atrophy have been limited. Therefore, neurofilament light chain is not yet routinely used as an outcome measure in MSA. We aimed to comprehensively investigate the role and dynamics of neurofilament light chain in multiple system atrophy combined with cross-sectional and longitudinal clinical and imaging scales and for subject trial selection. In this cohort study we recruited cross-sectional and longitudinal cases in multicentre European set-up. Plasma and cerebrospinal fluid neurofilament light chain concentrations were measured at baseline from 212 multiple system atrophy cases, annually for a mean period of 2 years in 44 multiple system atrophy patients in conjunction with clinical, neuropsychological and MRI brain assessments. Baseline neurofilament light chain characteristics were compared between groups. Cox regression was used to assess survival; ROC analysis to assess the ability of neurofilament light chain to distinguish between multiple system atrophy patients and healthy controls. Multivariate linear mixed effects models were used to analyse longitudinal neurofilament light chain changes and correlated with clinical and imaging parameters. Polynomial models were used to determine the differential trajectories of neurofilament light chain in multiple system atrophy. We estimated sample sizes for trials aiming to decrease NfL levels. We show that in multiple system atrophy, baseline plasma neurofilament light chain levels were better predictors of clinical progression, survival, and degree of brain atrophy than the NfL rate of change. Comparative analysis of multiple system atrophy progression over the course of disease, using plasma neurofilament light chain and clinical rating scales, indicated that neurofilament light chain levels rise as the motor symptoms progress, followed by deceleration in advanced stages. Sample size prediction suggested that significantly lower trial participant numbers would be needed to demonstrate treatment effects when incorporating plasma neurofilament light chain values into multiple system atrophy clinical trials in comparison to clinical measures alone. In conclusion, neurofilament light chain correlates with clinical disease severity, progression, and prognosis in multiple system atrophy. Combined with clinical and imaging analysis, neurofilament light chain can inform patient stratification and serve as a reliable biomarker of treatment response in future multiple system atrophy trials of putative disease-modifying agents.},\n doi = {10.1093/brain/awac253},\n mag_id = {4288424534},\n pmcid = {null},\n pmid = {35903017},\n}\n\n\n\n Disease-modifying treatments are currently being trialed in multiple system atrophy (MSA). Approaches based solely on clinical measures are challenged by heterogeneity of phenotype and pathogenic complexity. Neurofilament light chain protein has been explored as a reliable biomarker in several neurodegenerative disorders but data in multiple system atrophy have been limited. Therefore, neurofilament light chain is not yet routinely used as an outcome measure in MSA. We aimed to comprehensively investigate the role and dynamics of neurofilament light chain in multiple system atrophy combined with cross-sectional and longitudinal clinical and imaging scales and for subject trial selection. In this cohort study we recruited cross-sectional and longitudinal cases in multicentre European set-up. Plasma and cerebrospinal fluid neurofilament light chain concentrations were measured at baseline from 212 multiple system atrophy cases, annually for a mean period of 2 years in 44 multiple system atrophy patients in conjunction with clinical, neuropsychological and MRI brain assessments. Baseline neurofilament light chain characteristics were compared between groups. Cox regression was used to assess survival; ROC analysis to assess the ability of neurofilament light chain to distinguish between multiple system atrophy patients and healthy controls. Multivariate linear mixed effects models were used to analyse longitudinal neurofilament light chain changes and correlated with clinical and imaging parameters. Polynomial models were used to determine the differential trajectories of neurofilament light chain in multiple system atrophy. We estimated sample sizes for trials aiming to decrease NfL levels. We show that in multiple system atrophy, baseline plasma neurofilament light chain levels were better predictors of clinical progression, survival, and degree of brain atrophy than the NfL rate of change. Comparative analysis of multiple system atrophy progression over the course of disease, using plasma neurofilament light chain and clinical rating scales, indicated that neurofilament light chain levels rise as the motor symptoms progress, followed by deceleration in advanced stages. Sample size prediction suggested that significantly lower trial participant numbers would be needed to demonstrate treatment effects when incorporating plasma neurofilament light chain values into multiple system atrophy clinical trials in comparison to clinical measures alone. In conclusion, neurofilament light chain correlates with clinical disease severity, progression, and prognosis in multiple system atrophy. Combined with clinical and imaging analysis, neurofilament light chain can inform patient stratification and serve as a reliable biomarker of treatment response in future multiple system atrophy trials of putative disease-modifying agents.\n
\n\n\n\n \n\n \n \n \n \n \n Impaired Sphingolipid Hydrolase Activities in Dementia with Lewy Bodies and Multiple System Atrophy.\n \n \n \n\n\n \n Usenko, T.; Usenko, T.; Senkevich, K.; Senkevich, K.; Bezrukova, A. I.; Bezrukova, A.; Baydakova, G.; Baydakova, G.; Basharova, K. S.; Basharova, K.; Zhuravlev, A.; Журавлев, А. С.; Gracheva, E. V.; Gracheva, E.; Kudrevatykh, A. V.; Kudrevatykh, A.; Miliukhina, I.; Miliukhina, I.; Krasakov, I. V.; Красаков, И. В.; Khublarova, L. A.; Хубларова, Л. А.; Fursova, I. V.; Fursova, I. V.; Zakharov, D. V.; Захаров, Д. В.; Timofeeva, A A; Тимофеева, А. А.; Irishina, Y. A.; Irishina, Y.; Palchikova, E. I.; Palchikova, E. I.; Zalutskaya, N. M.; Zalutskaya, N. M.; Emelyanov, A.; Anton, E.; Zakharova, E. Y.; Zakharova, E.; Pchelina, S. N.; and Пчелина, С. Н.\n\n\n \n\n\n\n Molecular Neurobiology. 2022.\n \n\n\n\n
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\n\n\n@Article{Usenko_2022,\n author = {T.S. Usenko and Tatiana Usenko and Konstantin Senkevich and Konstantin Senkevich and A. I. Bezrukova and Anastasia Bezrukova and Galina Baydakova and Galina Baydakova and K. S. Basharova and Katerina Basharova and A. Zhuravlev and А. С. Журавлев and E. V. Gracheva and E. Gracheva and A. V. Kudrevatykh and Anastasia Kudrevatykh and Irina Miliukhina and Irina Miliukhina and I. V. Krasakov and И. В. Красаков and L. A. Khublarova and Л. А. Хубларова and I. V. Fursova and I. V. Fursova and D. V. Zakharov and Д. В. Захаров and A A Timofeeva and А. А. Тимофеева and Y. A. Irishina and Yulia Irishina and E. I. Palchikova and Ekaterina I. Palchikova and N. M. Zalutskaya and N. M. Zalutskaya and A. Emelyanov and Emil Anton and E. Y. Zakharova and Ekaterina Zakharova and S. N. Pchelina and С. Н. Пчелина},\n journal = {Molecular Neurobiology},\n title = {Impaired Sphingolipid Hydrolase Activities in Dementia with Lewy Bodies and Multiple System Atrophy},\n year = {2022},\n abstract = {The synucleinopathies are a group of neurodegenerative diseases characterized by the oligomerization of alpha-synuclein protein in neurons or glial cells. Recent studies provide data that ceramide metabolism impairment may play a role in the pathogenesis of synucleinopathies due to its influence on alpha-synuclein accumulation. The aim of the current study was to assess changes in activities of enzymes involved in ceramide metabolism in patients with different synucleinopathies (Parkinson’s disease (PD), dementia with Lewy bodies (DLB), and multiple system atrophy (MSA)). The study enrolled 163 PD, 44 DLB, and 30 MSA patients as well as 159 controls. Glucocerebrosidase, alpha-galactosidase, acid sphingomyelinase enzyme activities, and concentrations of the corresponding substrates (hexosylsphingosine, globotriaosylsphingosine, lysosphingomyelin) were measured by liquid chromatography tandem-mass spectrometry in blood. Expression levels of GBA, GLA, and SMPD1 genes encoding glucoceresobridase, alpha-galactosidase, and acid sphingomyelinase enzymes, correspondently, were analyzed by real-time PCR with TaqMan assay in CD45 + blood cells. Increased hexosylsphingosine concentration was observed in DLB and MSA patients in comparison to PD and controls (p < 0.001) and it was associated with earlier age at onset (AAO) of DLB (p = 0.0008). SMPD1 expression was decreased in MSA compared to controls (p = 0.015). Acid sphingomyelinase activity was decreased in DLB, MSA patients compared to PD patients (p < 0.0001, p < 0.0001, respectively), and in MSA compared to controls (p < 0.0001). Lower acid sphingomyelinase activity was associated with earlier AAO of PD (p = 0.012). Our data support the role of lysosomal dysfunction in the pathogenesis of synucleinopathies, namely, the pronounced alterations of lysosomal activities involved in ceramide metabolism in patients with MSA and DLB.},\n doi = {10.1007/s12035-021-02688-0},\n mag_id = {4207046658},\n pmcid = {null},\n pmid = {35066761},\n}\n\n\n\n The synucleinopathies are a group of neurodegenerative diseases characterized by the oligomerization of alpha-synuclein protein in neurons or glial cells. Recent studies provide data that ceramide metabolism impairment may play a role in the pathogenesis of synucleinopathies due to its influence on alpha-synuclein accumulation. The aim of the current study was to assess changes in activities of enzymes involved in ceramide metabolism in patients with different synucleinopathies (Parkinson’s disease (PD), dementia with Lewy bodies (DLB), and multiple system atrophy (MSA)). The study enrolled 163 PD, 44 DLB, and 30 MSA patients as well as 159 controls. Glucocerebrosidase, alpha-galactosidase, acid sphingomyelinase enzyme activities, and concentrations of the corresponding substrates (hexosylsphingosine, globotriaosylsphingosine, lysosphingomyelin) were measured by liquid chromatography tandem-mass spectrometry in blood. Expression levels of GBA, GLA, and SMPD1 genes encoding glucoceresobridase, alpha-galactosidase, and acid sphingomyelinase enzymes, correspondently, were analyzed by real-time PCR with TaqMan assay in CD45 + blood cells. Increased hexosylsphingosine concentration was observed in DLB and MSA patients in comparison to PD and controls (p < 0.001) and it was associated with earlier age at onset (AAO) of DLB (p = 0.0008). SMPD1 expression was decreased in MSA compared to controls (p = 0.015). Acid sphingomyelinase activity was decreased in DLB, MSA patients compared to PD patients (p < 0.0001, p < 0.0001, respectively), and in MSA compared to controls (p < 0.0001). Lower acid sphingomyelinase activity was associated with earlier AAO of PD (p = 0.012). Our data support the role of lysosomal dysfunction in the pathogenesis of synucleinopathies, namely, the pronounced alterations of lysosomal activities involved in ceramide metabolism in patients with MSA and DLB.\n
\n\n\n\n \n\n \n \n \n \n \n Could Blood Hexosylsphingosine Be a Marker for Parkinson's Disease Linked with GBA1 Mutations?.\n \n \n \n\n\n \n Kopytova, A. E.; Kopytova, A. E.; Usenko, T.; Usenko, T. S.; Baydakova, G.; Baydakova, G. V.; Николаев, М.; Nikolaev, M.; Senkevich, K.; Senkevich, K. A.; Izyumchenko, A. D.; Izyumchenko, A. D.; Tyurin, A.; Tyurin, A. A.; Miliukhina, I.; Miliukhina, I. V.; Anton, E.; Emelyanov, A. K.; Zakharova, E.; Zakharova, E. Y.; Пчелина, С. Н.; and Pchelina, S.\n\n\n \n\n\n\n Movement Disorders. 2022.\n \n\n\n\n
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\n\n\n@Article{Kopytova_2022,\n author = {Alena E. Kopytova and Alena E. Kopytova and Tatiana Usenko and Tatiana S. Usenko and Galina Baydakova and Galina V. Baydakova and Михаил Николаев and M.A. Nikolaev and Konstantin Senkevich and Konstantin A. Senkevich and Artem D. Izyumchenko and Artem D. Izyumchenko and Alexandr Tyurin and Alexandr A. Tyurin and Irina Miliukhina and Irina V. Miliukhina and Emil Anton and Anton K. Emelyanov and Ekaterina Zakharova and Ekaterina Y. Zakharova and С. Н. Пчелина and S.N. Pchelina},\n journal = {Movement Disorders},\n title = {Could Blood Hexosylsphingosine Be a Marker for Parkinson's Disease Linked with <scp> <i>GBA1</i> </scp> Mutations?},\n year = {2022},\n abstract = {The data that support the findings of this study are available on request from the corresponding author. The data are not publicly available due to privacy or ethical restrictions.},\n doi = {10.1002/mds.29132},\n mag_id = {4283828062},\n pmcid = {null},\n pmid = {35792565},\n}\n\n\n\n The data that support the findings of this study are available on request from the corresponding author. The data are not publicly available due to privacy or ethical restrictions.\n
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\n \n \n\n \n \n \n \n \n Transcriptomic Profiles Reveal Downregulation of Low-Density Lipoprotein Particle Receptor Pathway Activity in Patients Surviving Severe COVID-19.\n \n \n \n\n\n \n Vlasov, I.; Vlasov, I. N.; Panteleeva, A.; Пантелеева, А. А.; Usenko, T.; Usenko, T.; Nikolaev, M.; Николаев, М.; Izumchenko, A.; Izumchenko, A.; Gavrilova, E.; Гаврилова, Е. Г.; Shlyk, I.; Шлык, И. В.; Miroshnikova, V.; Мирошникова, В. В.; Shadrina, M.; Шадрина, М. И.; Polushin, Y.; Polushin, Y. S.; Pchelina, S.; Пчелина, С. Н.; Slonimsky, P.; and Slonimsky, P.\n\n\n \n\n\n\n Cells. 2021.\n \n\n\n\n
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\n\n\n@Article{Vlasov_2021,\n author = {Ivan Vlasov and Ivan N. Vlasov and Alexandra Panteleeva and А. А. Пантелеева and Tatiana Usenko and Tatiana Usenko and M.A. Nikolaev and Михаил Николаев and Artem Izumchenko and Artem Izumchenko and Elena Gavrilova and Е. Г. Гаврилова and Irina Shlyk and И. В. Шлык and Valentina Miroshnikova and В. В. Мирошникова and Maria Shadrina and М. И. Шадрина and Yurii Polushin and Yu. S. Polushin and Sofya Pchelina and С. Н. Пчелина and Petr Slonimsky and Petr Slonimsky},\n journal = {Cells},\n title = {Transcriptomic Profiles Reveal Downregulation of Low-Density Lipoprotein Particle Receptor Pathway Activity in Patients Surviving Severe COVID-19.},\n year = {2021},\n abstract = {To assess the biology of the lethal endpoint in patients with SARS-CoV-2 infection, we compared the transcriptional response to the virus in patients who survived or died during severe COVID-19. We applied gene expression profiling to generate transcriptional signatures for peripheral blood mononuclear cells (PBMCs) from patients with SARS-CoV-2 infection at the time when they were placed in the Intensive Care Unit of the Pavlov First State Medical University of St. Petersburg (Russia). Three different bioinformatics approaches to RNA-seq analysis identified a downregulation of three common pathways in survivors compared with nonsurvivors among patients with severe COVID-19, namely, low-density lipoprotein (LDL) particle receptor activity (GO:0005041), important for maintaining cholesterol homeostasis, leukocyte differentiation (GO:0002521), and cargo receptor activity (GO:0038024). Specifically, PBMCs from surviving patients were characterized by reduced expression of PPARG, CD36, STAB1, ITGAV, and ANXA2. Taken together, our findings suggest that LDL particle receptor pathway activity in patients with COVID-19 infection is associated with poor disease prognosis.},\n doi = {10.3390/cells10123495},\n mag_id = {4200558409},\n pmcid = {null},\n pmid = {34944005},\n}\n\n\n\n To assess the biology of the lethal endpoint in patients with SARS-CoV-2 infection, we compared the transcriptional response to the virus in patients who survived or died during severe COVID-19. We applied gene expression profiling to generate transcriptional signatures for peripheral blood mononuclear cells (PBMCs) from patients with SARS-CoV-2 infection at the time when they were placed in the Intensive Care Unit of the Pavlov First State Medical University of St. Petersburg (Russia). Three different bioinformatics approaches to RNA-seq analysis identified a downregulation of three common pathways in survivors compared with nonsurvivors among patients with severe COVID-19, namely, low-density lipoprotein (LDL) particle receptor activity (GO:0005041), important for maintaining cholesterol homeostasis, leukocyte differentiation (GO:0002521), and cargo receptor activity (GO:0038024). Specifically, PBMCs from surviving patients were characterized by reduced expression of PPARG, CD36, STAB1, ITGAV, and ANXA2. Taken together, our findings suggest that LDL particle receptor pathway activity in patients with COVID-19 infection is associated with poor disease prognosis.\n
\n\n\n\n \n\n \n \n \n \n \n Increased α-Synuclein Level in CD45+ Blood Cells in Asymptomatic Carriers of GBA Mutations.\n \n \n \n\n\n \n Anton, E.; Emelyanov, A.; Usenko, T.; Usenko, T.; Usenko, T.; Николаев, М.; Nikolaev, M.; Senkevich, K.; Senkevich, K.; Кулабухова, Д. Г.; Kulabukhova, D.; Lavrinova, A.; Lavrinova, A.; Andoskin, P.; Andoskin, P.; Miliukhina, I.; Miliukhina, I.; Пчелина, С. Н.; and Pchelina, S.\n\n\n \n\n\n\n Movement Disorders. 2021.\n \n\n\n\n
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\n\n\n@Article{Anton_2021,\n author = {Emil Anton and A. Emelyanov and Tatiana Usenko and Tatiana Usenko and T.S. Usenko and Михаил Николаев and M.A. Nikolaev and Konstantin Senkevich and Konstantin Senkevich and Д. Г. Кулабухова and Darya Kulabukhova and A. Lavrinova and Anna Lavrinova and P. Andoskin and Pavel Andoskin and Irina Miliukhina and Irina Miliukhina and С. Н. Пчелина and S.N. Pchelina},\n journal = {Movement Disorders},\n title = {Increased α-Synuclein Level in CD45+ Blood Cells in Asymptomatic Carriers of GBA Mutations.},\n year = {2021},\n abstract = {Figure S1. CD45+ α-synuclein level in GBA-PD, GBA carriers, sPD, and controls. Table S1. GBA variants identified in GBA-PD patients and GBA carriers. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.},\n doi = {10.1002/mds.28688},\n mag_id = {3195552155},\n pmcid = {null},\n pmid = {34409693},\n}\n\n\n\n Figure S1. CD45+ α-synuclein level in GBA-PD, GBA carriers, sPD, and controls. Table S1. GBA variants identified in GBA-PD patients and GBA carriers. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.\n
\n\n\n\n \n\n \n \n \n \n \n Ambroxol increases glucocerebrosidase (GCase) activity and restores GCase translocation in primary patient-derived macrophages in Gaucher disease and Parkinsonism.\n \n \n \n\n\n \n Kopytova, A. E.; Kopytova, A. E.; Kopytova, A.; Kopytova, A E; Rychkov, G.; Rychkov, G.; Rychkov, G.; Николаев, М.; Nikolaev, M.; Baydakova, G.; Baydakova, G.; Cheblokov, A.; Cheblokov, A.; Senkevich, K.; Senkevich, K.; Senkevich, K.; Bogdanova, D.; Bogdanova, D.; Bolshakova, O. I.; Bolshakova, O.; Miliukhina, I.; Miliukhina, I.; Bezrukikh, V.; Bezrukikh, V.; Salogub, G.; Salogub, G.; Саранцева, С. В.; Sarantseva, S.; Usenko, T.; Usenko, T.; Zakharova, E.; Zakharova, E.; Zakharova, E.; Anton, E.; Emelyanov, A.; Emelyanov, A.; Пчелина, С. Н.; and Pchelina, S.\n\n\n \n\n\n\n Parkinsonism & Related Disorders. 2021.\n \n\n\n\n
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\n\n\n@Article{Kopytova_2021,\n author = {Alena E. Kopytova and Alena E. Kopytova and A. Kopytova and A E Kopytova and Georgy Rychkov and Georgy Rychkov and G.N. Rychkov and Михаил Николаев and M.A. Nikolaev and Galina Baydakova and G.V. Baydakova and Aleksandr Cheblokov and A.A. Cheblokov and Konstantin Senkevich and Konstantin Senkevich and Konstantin Senkevich and D. Bogdanova and D.A. Bogdanova and O. I. Bolshakova and O.I. Bolshakova and Irina Miliukhina and Irina Miliukhina and Vadim Bezrukikh and V.A. Bezrukikh and Galina Salogub and G.N. Salogub and С. В. Саранцева and S.V. Sarantseva and Tatiana Usenko and T.C. Usenko and Ekaterina Zakharova and E.Y. Zakharova and Ekaterina Zakharova and Emil Anton and A.K. Emelyanov and A. Emelyanov and С. Н. Пчелина and S.N. Pchelina},\n journal = {Parkinsonism & Related Disorders},\n title = {Ambroxol increases glucocerebrosidase (GCase) activity and restores GCase translocation in primary patient-derived macrophages in Gaucher disease and Parkinsonism.},\n year = {2021},\n abstract = {null},\n doi = {10.1016/j.parkreldis.2021.02.003},\n mag_id = {3128898550},\n pmcid = {null},\n pmid = {null},\n}\n\n\n\n null\n
\n\n\n\n \n\n \n \n \n \n \n Comparative Transcriptome Analysis in Monocyte-Derived Macrophages of Asymptomatic GBA Mutation Carriers and Patients with GBA-Associated Parkinson's Disease.\n \n \n \n\n\n \n Usenko, T.; Usenko, T.; Bezrukova, A.; Bezrukova, A.; Basharova, K.; Basharova, K.; Пантелеева, А. А.; Panteleeva, A A; Panteleeva, A. A.; Николаев, М.; Nikolaev, M.; Kopytova, A. E.; Kopytova, A. E.; Miliukhina, I.; Miliukhina, I.; Anton, E.; Emelyanov, A.; Zakharova, E.; Zakharova, E. Y.; Zakharova, E.; Пчелина, С. Н.; and Pchelina, S.\n\n\n \n\n\n\n Genes. 2021.\n \n\n\n\n
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\n\n\n@Article{Usenko_2021,\n author = {Tatiana Usenko and T.S. Usenko and Anastasia Bezrukova and Anastasia Bezrukova and Katerina Basharova and Katerina Basharova and А. А. Пантелеева and A A Panteleeva and Alexandra A. Panteleeva and Михаил Николаев and M.A. Nikolaev and Alena E. Kopytova and Alena E. Kopytova and Irina Miliukhina and Irina Miliukhina and Emil Anton and A. Emelyanov and Ekaterina Zakharova and Ekaterina Y. Zakharova and Ekaterina Zakharova and С. Н. Пчелина and S.N. Pchelina},\n journal = {Genes},\n title = {Comparative Transcriptome Analysis in Monocyte-Derived Macrophages of Asymptomatic GBA Mutation Carriers and Patients with GBA-Associated Parkinson's Disease.},\n year = {2021},\n abstract = {Mutations of the GBA gene, encoding for lysosomal enzyme glucocerebrosidase (GCase), are the greatest genetic risk factor for Parkinson’s disease (PD) with frequency between 5% and 20% across the world. N370S and L444P are the two most common mutations in the GBA gene. PD carriers of severe mutation L444P in the GBA gene is characterized by the earlier age at onset compared to N370S. Not every carrier of GBA mutations develop PD during one’s lifetime. In the current study we aimed to find common gene expression signatures in PD associated with mutation in the GBA gene (GBA-PD) using RNA-seq. We compared transcriptome of monocyte-derived macrophages of 5 patients with GBA-PD (4 L444P/N, 1 N370S/N) and 4 asymptomatic GBA mutation carriers (GBA-carriers) (3 L444P/N, 1 N370S/N) and 4 controls. We also conducted comparative transcriptome analysis for L444P/N only GBA-PD patients and GBA-carriers. Revealed deregulated genes in GBA-PD independently of GBA mutations (L444P or N370S) were involved in immune response, neuronal function. We found upregulated pathway associated with zinc metabolism in L444P/N GBA-PD patients. The potential important role of DUSP1 in the pathogenesis of GBA-PD was suggested.},\n doi = {10.3390/genes12101545},\n mag_id = {3203222608},\n pmcid = {null},\n pmid = {null},\n}\n\n\n\n Mutations of the GBA gene, encoding for lysosomal enzyme glucocerebrosidase (GCase), are the greatest genetic risk factor for Parkinson’s disease (PD) with frequency between 5% and 20% across the world. N370S and L444P are the two most common mutations in the GBA gene. PD carriers of severe mutation L444P in the GBA gene is characterized by the earlier age at onset compared to N370S. Not every carrier of GBA mutations develop PD during one’s lifetime. In the current study we aimed to find common gene expression signatures in PD associated with mutation in the GBA gene (GBA-PD) using RNA-seq. We compared transcriptome of monocyte-derived macrophages of 5 patients with GBA-PD (4 L444P/N, 1 N370S/N) and 4 asymptomatic GBA mutation carriers (GBA-carriers) (3 L444P/N, 1 N370S/N) and 4 controls. We also conducted comparative transcriptome analysis for L444P/N only GBA-PD patients and GBA-carriers. Revealed deregulated genes in GBA-PD independently of GBA mutations (L444P or N370S) were involved in immune response, neuronal function. We found upregulated pathway associated with zinc metabolism in L444P/N GBA-PD patients. The potential important role of DUSP1 in the pathogenesis of GBA-PD was suggested.\n
\n\n\n\n \n\n \n \n \n \n \n The Expression of Genes Encoding ABCA1 and ABCG1 Transporters and PPARγ, LXRβ, and RORα Transcriptional Factors in Subcutaneous and Visceral Adipose Tissue in Women with Metabolic Syndrome.\n \n \n \n\n\n \n Пантелеева, А. А.; Panteleeva, A. A.; Razgildina, N.; Razgildina, N. D.; Бровин, Д. Л.; Brovin, D. L.; Побожева, И. А.; Pobozheva, I. A.; Драчева, К. В.; Dracheva, K. V.; Беркович, О. А.; Berkovich, O. A.; Polyakova, E.; Polyakova, E. A.; Belyaeva, O.; Belyaeva, O. D.; Баранова, Е. И.; Baranova, E. I.; Пчелина, С. Н.; Pchelina, S. N.; Мирошникова, В. В.; and Miroshnikova, V. V.\n\n\n \n\n\n\n Molecular Biology, 55(1): 56–65. January 2021.\n \n\n\n\n
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\n\n\n@Article{Panteleeva_2021,\n author = {А. А. Пантелеева and A. A. Panteleeva and N. Razgildina and N. D. Razgildina and Д. Л. Бровин and D. L. Brovin and И. А. Побожева and I. A. Pobozheva and К. В. Драчева and K. V. Dracheva and О. А. Беркович and O. A. Berkovich and E. Polyakova and E. A. Polyakova and O. Belyaeva and O. D. Belyaeva and Е. И. Баранова and E. I. Baranova and С. Н. Пчелина and S. N. Pchelina and В. В. Мирошникова and V. V. Miroshnikova},\n journal = {Molecular Biology},\n title = {The Expression of Genes Encoding ABCA1 and ABCG1 Transporters and PPARγ, LXRβ, and RORα Transcriptional Factors in Subcutaneous and Visceral Adipose Tissue in Women with Metabolic Syndrome},\n year = {2021},\n issn = {1608-3245},\n month = jan,\n number = {1},\n pages = {56--65},\n volume = {55},\n abstract = {null},\n doi = {10.1134/s0026893321010131},\n mag_id = {4232774008},\n pmcid = {null},\n pmid = {null},\n publisher = {Pleiades Publishing Ltd},\n}\n\n\n\n null\n
\n\n\n\n \n\n \n \n \n \n \n Plasma Exosomes in Inherited Forms of Parkinson’s Disease.\n \n \n \n\n\n \n Kulabukhova, D. G.; Garaeva, L. A.; Emelyanov, A. K.; Senkevich, K. A.; Gracheva, E. V.; Miliukhina, I. V.; Varfolomeeva, E. Y.; Timofeeva, A. A.; Schwartsman, A. L.; Shtam, T. A.; and Pchelina, S. N.\n\n\n \n\n\n\n Molecular Biology, 55(2): 297–303. March 2021.\n \n\n\n\n
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\n\n\n@Article{Kulabukhova_2021,\n author = {Kulabukhova, D. G. and Garaeva, L. A. and Emelyanov, A. K. and Senkevich, K. A. and Gracheva, E. V. and Miliukhina, I. V. and Varfolomeeva, E. Y. and Timofeeva, A. A. and Schwartsman, A. L. and Shtam, T. A. and Pchelina, S. N.},\n journal = {Molecular Biology},\n title = {Plasma Exosomes in Inherited Forms of Parkinson’s Disease},\n year = {2021},\n issn = {1608-3245},\n month = mar,\n number = {2},\n pages = {297--303},\n volume = {55},\n abstract = {null},\n doi = {10.1134/s002689332101009x},\n mag_id = {4247699525},\n pmcid = {null},\n pmid = {null},\n publisher = {Pleiades Publishing Ltd},\n}\n\n\n\n null\n
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\n \n \n\n \n \n \n \n \n Genetics variants and expression of the SCARB2 gene in the pathogenesis of Parkinson's disease in Russia.\n \n \n \n\n\n \n Usenko, T.; Usenko, T.; Usenko, T.; Bezrukova, A.; Bezrukova, A.; Bogdanova, D.; Bogdanova, D.; Kopytova, A. E.; Kopytova, A.; Senkevich, K.; Senkevich, K.; Gracheva, E.; Gracheva, E.; Тимофеева, А. А.; Timofeeva, A A; Timofeeva, A.; Miliukhina, I.; Miliukhina, I.; Miliukhina, I.; Zakharova, E.; Zakharova, E.; Anton, E.; Emelyanov, A.; Пчелина, С. Н.; and Pchelina, S.\n\n\n \n\n\n\n Neuroscience Letters. 2020.\n \n\n\n\n
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\n\n\n@Article{Usenko_2020,\n author = {Tatiana Usenko and T.S. Usenko and T.S. Usenko and Anastasia Bezrukova and A.I. Bezrukova and D. Bogdanova and D.A. Bogdanova and Alena E. Kopytova and A. Kopytova and Konstantin Senkevich and Konstantin Senkevich and E. Gracheva and E.V. Gracheva and А. А. Тимофеева and A A Timofeeva and A. Timofeeva and Irina Miliukhina and I. Miliukhina and Irina Miliukhina and Ekaterina Zakharova and E.Y. Zakharova and Emil Anton and A. Emelyanov and С. Н. Пчелина and S.N. Pchelina},\n journal = {Neuroscience Letters},\n title = {Genetics variants and expression of the SCARB2 gene in the pathogenesis of Parkinson's disease in Russia.},\n year = {2020},\n abstract = {null},\n doi = {10.1016/j.neulet.2020.135509},\n mag_id = {3107466479},\n pmcid = {null},\n pmid = {33227372},\n}\n\n\n\n null\n
\n\n\n\n \n\n \n \n \n \n \n Cryo-electron microscopy of extracellular vesicles from cerebrospinal fluid.\n \n \n \n\n\n \n Anton, E.; Emelyanov, A.; Shtam, T.; Shtam, T.; Shtam, T.; Kamyshinsky, R.; Kamyshinsky, R.; Garaeva, L.; Garaeva, L.; Garaeva, L. A.; Верлов, Н. А.; Verlov, N.; Miliukhina, I.; Miliukhina, I.; Miliukhina, I.; Kudrevatykh, A.; Kudrevatykh, A.; Гаврилов, Г. В.; Gavrilov, G.; Zabrodskaya, Y.; Zabrodskaya, Y.; Пчелина, С. Н.; Pchelina, S.; Konevega, A. L.; and Konevega, A. L.\n\n\n \n\n\n\n PLOS ONE. 2020.\n \n\n\n\n
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\n\n\n@Article{Anton_2020,\n author = {Emil Anton and A. Emelyanov and Tatiana Shtam and Tatiana Shtam and Tatiana Shtam and Roman Kamyshinsky and Roman Kamyshinsky and Luiza Garaeva and Luiza Garaeva and L. A. Garaeva and Н. А. Верлов and Nikolai Verlov and Irina Miliukhina and Irina Miliukhina and Irina Miliukhina and Anastasia Kudrevatykh and Anastasia Kudrevatykh and Г. В. Гаврилов and Gaspar Gavrilov and Yulia Zabrodskaya and Yulia Zabrodskaya and С. Н. Пчелина and S.N. Pchelina and Andrey L. Konevega and Andrey L. Konevega},\n journal = {PLOS ONE},\n title = {Cryo-electron microscopy of extracellular vesicles from cerebrospinal fluid.},\n year = {2020},\n abstract = {Extracellular vesicles (EVs) are membrane-enclosed vesicles which play important role for cell communication and physiology. EVs are found in many human biological fluids, including blood, breast milk, urine, cerebrospinal fluid (CSF), ejaculate, saliva etc. These nano-sized vesicles contain proteins, mRNAs, microRNAs, non-coding RNAs and lipids that are derived from producing cells. EVs deliver complex sets of biological information to recipient cells thereby modulating their behaviors by their molecular cargo. In this way EVs are involved in the pathological development and progression of many human disorders, including neurodegenerative diseases. In this study EVs purified by ultracentrifugation from CSF of patients with Parkinson's disease (PD) and individuals of the comparison group were characterized using nanoparticle tracking analysis, flow cytometry and cryo-electron microscopy. Vesicular size and the presence of exosomal marker CD9 on the surface provided evidence that most of the EVs were exosome-like vesicles. Cryo-electron microscopy allowed us to visualize a large spectrum of extracellular vesicles of various size and morphology with lipid bilayers and vesicular internal structures. Thus, we described the diversity and new characteristics of the vesicles from CSF suggesting that subpopulations of EVs with different and specific functions may exist.},\n doi = {10.1371/journal.pone.0227949},\n mag_id = {3003542953},\n pmcid = {6991974},\n pmid = {31999742},\n}\n\n\n\n Extracellular vesicles (EVs) are membrane-enclosed vesicles which play important role for cell communication and physiology. EVs are found in many human biological fluids, including blood, breast milk, urine, cerebrospinal fluid (CSF), ejaculate, saliva etc. These nano-sized vesicles contain proteins, mRNAs, microRNAs, non-coding RNAs and lipids that are derived from producing cells. EVs deliver complex sets of biological information to recipient cells thereby modulating their behaviors by their molecular cargo. In this way EVs are involved in the pathological development and progression of many human disorders, including neurodegenerative diseases. In this study EVs purified by ultracentrifugation from CSF of patients with Parkinson's disease (PD) and individuals of the comparison group were characterized using nanoparticle tracking analysis, flow cytometry and cryo-electron microscopy. Vesicular size and the presence of exosomal marker CD9 on the surface provided evidence that most of the EVs were exosome-like vesicles. Cryo-electron microscopy allowed us to visualize a large spectrum of extracellular vesicles of various size and morphology with lipid bilayers and vesicular internal structures. Thus, we described the diversity and new characteristics of the vesicles from CSF suggesting that subpopulations of EVs with different and specific functions may exist.\n
\n\n\n\n \n\n \n \n \n \n \n Relevance of biomarkers across different neurodegenerative diseases.\n \n \n \n\n\n \n Ehrenberg, A. J.; Ehrenberg, A. J.; Khatun, A.; Khatun, A.; Coomans, E. M.; Coomans, E.; Coomans, E.; Betts, M. J.; Betts, M. J.; Capraro, F.; Capraro, F.; Thijssen, E. H.; Thijssen, E. H.; Senkevich, K.; Senkevich, K.; Senkevich, K.; Breuer, J.; Bharucha, T.; Bharucha, T.; Bharucha, T.; Bharucha, T.; Jafarpour, M.; Jafarpour, M.; Young, P.; Young, P. N. E.; Jagust, W. J.; Jagust, W. J.; Carter, S. F.; Carter, S. F.; Carter, S. F.; Lashley, T.; Lashley, T.; Grinberg, L. T.; Grinberg, L. T.; Pereira, J. B.; Pereira, J. B.; Mattsson, N.; Mattsson‐Carlgren, N.; Mattsson-Carlgren, N.; Mattsson-Carlgren, N.; Ashton, N. J.; Ashton, N. J.; Hanrieder, J.; Hanrieder, J.; Zetterberg, H.; Zetterberg, H.; Schöll, M.; Schöll, M.; Paterson, R. W.; and Paterson, R. W.\n\n\n \n\n\n\n Alzheimer's Research & Therapy. 2020.\n \n\n\n\n
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\n\n\n@Article{Ehrenberg_2020,\n author = {Alexander J. Ehrenberg and Alexander J. Ehrenberg and Ayesha Khatun and Ayesha Khatun and Emma M. Coomans and Emma Coomans and Emma Coomans and Matthew J. Betts and Matthew J. Betts and Federica Capraro and Federica Capraro and Elisabeth H. Thijssen and Elisabeth H. Thijssen and Konstantin Senkevich and Konstantin Senkevich and Konstantin Senkevich and Judith Breuer and Tehmina Bharucha and Tehmina Bharucha and Tehmina Bharucha and Tehmina Bharucha and Mehrsa Jafarpour and Mehrsa Jafarpour and Peter Young and Peter N. E. Young and William J. Jagust and William J. Jagust and Stephen F. Carter and Stephen F. Carter and Stephen F. Carter and Tammaryn Lashley and Tammaryn Lashley and Lea T. Grinberg and Lea T. Grinberg and Joana B. Pereira and Joana B. Pereira and Niklas Mattsson and Niklas Mattsson‐Carlgren and Niklas Mattsson-Carlgren and Niklas Mattsson-Carlgren and Nicholas J. Ashton and Nicholas J. Ashton and Jörg Hanrieder and Jörg Hanrieder and Henrik Zetterberg and Henrik Zetterberg and Michael Schöll and Michael Schöll and Ross W. Paterson and Ross W. Paterson},\n journal = {Alzheimer's Research & Therapy},\n title = {Relevance of biomarkers across different neurodegenerative diseases},\n year = {2020},\n abstract = {BACKGROUND: The panel of fluid- and imaging-based biomarkers available for neurodegenerative disease research is growing and has the potential to close important gaps in research and the clinic. With this growth and increasing use, appropriate implementation and interpretation are paramount. Various biomarkers feature nuanced differences in strengths, limitations, and biases that must be considered when investigating disease etiology and clinical utility. For example, neuropathological investigations of Alzheimer's disease pathogenesis can fall in disagreement with conclusions reached by biomarker-based investigations. Considering the varied strengths, limitations, and biases of different research methodologies and approaches may help harmonize disciplines within the neurodegenerative disease field. PURPOSE OF REVIEW: Along with separate review articles covering fluid and imaging biomarkers in this issue of Alzheimer's Research and Therapy, we present the result of a discussion from the 2019 Biomarkers in Neurodegenerative Diseases course at the University College London. Here, we discuss themes of biomarker use in neurodegenerative disease research, commenting on appropriate use, interpretation, and considerations for implementation across different neurodegenerative diseases. We also draw attention to areas where biomarker use can be combined with other disciplines to understand issues of pathophysiology and etiology underlying dementia. Lastly, we highlight novel modalities that have been proposed in the landscape of neurodegenerative disease research and care.},\n doi = {10.1186/s13195-020-00601-w},\n mag_id = {3027478827},\n pmcid = {null},\n pmid = {32404143},\n}\n\n\n\n BACKGROUND: The panel of fluid- and imaging-based biomarkers available for neurodegenerative disease research is growing and has the potential to close important gaps in research and the clinic. With this growth and increasing use, appropriate implementation and interpretation are paramount. Various biomarkers feature nuanced differences in strengths, limitations, and biases that must be considered when investigating disease etiology and clinical utility. For example, neuropathological investigations of Alzheimer's disease pathogenesis can fall in disagreement with conclusions reached by biomarker-based investigations. Considering the varied strengths, limitations, and biases of different research methodologies and approaches may help harmonize disciplines within the neurodegenerative disease field. PURPOSE OF REVIEW: Along with separate review articles covering fluid and imaging biomarkers in this issue of Alzheimer's Research and Therapy, we present the result of a discussion from the 2019 Biomarkers in Neurodegenerative Diseases course at the University College London. Here, we discuss themes of biomarker use in neurodegenerative disease research, commenting on appropriate use, interpretation, and considerations for implementation across different neurodegenerative diseases. We also draw attention to areas where biomarker use can be combined with other disciplines to understand issues of pathophysiology and etiology underlying dementia. Lastly, we highlight novel modalities that have been proposed in the landscape of neurodegenerative disease research and care.\n
\n\n\n\n \n\n \n \n \n \n \n Perspectives in fluid biomarkers in neurodegeneration from the 2019 biomarkers in neurodegenerative diseases course - A joint PhD student course at University College London and University of Gothenburg.\n \n \n \n\n\n \n Obrocki, P.; Obrocki, P.; Khatun, A.; Khatun, A.; Khatun, A.; Ness, D.; Ness, D. L.; Senkevich, K.; Senkevich, K.; Senkevich, K.; Hanrieder, J.; Hanrieder, J.; Capraro, F.; Capraro, F.; Mattsson, N.; Mattsson, N.; Andréasson, U.; Andreasson, U.; Portelius, E.; Portelius, E.; Ashton, N. J.; Ashton, N. J.; Blennow, K.; Blennow, K.; Schöll, M.; Schöll, M.; Paterson, R. W.; Paterson, R. W.; Schott, J. M.; Schott, J. M.; Zetterberg, H.; and Zetterberg, H.\n\n\n \n\n\n\n Alzheimer's Research & Therapy. 2020.\n \n\n\n\n
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\n\n\n@Article{Obrocki_2020,\n author = {Pawel Obrocki and Pawel Obrocki and Ayesha Khatun and Ayesha Khatun and Ayesha Khatun and Deborah Ness and Deborah Lucia Ness and Konstantin Senkevich and Konstantin Senkevich and Konstantin Senkevich and Jörg Hanrieder and Jörg Hanrieder and Federica Capraro and Federica Capraro and Niklas Mattsson and Niklas Mattsson and Ulf Andréasson and Ulf Andreasson and Erik Portelius and Erik Portelius and Nicholas J. Ashton and Nicholas J. Ashton and Kaj Blennow and Kaj Blennow and Michael Schöll and Michael Schöll and Ross W. Paterson and Ross W. Paterson and Jonathan M. Schott and Jonathan M. Schott and Henrik Zetterberg and Henrik Zetterberg},\n journal = {Alzheimer's Research & Therapy},\n title = {Perspectives in fluid biomarkers in neurodegeneration from the 2019 biomarkers in neurodegenerative diseases course - A joint PhD student course at University College London and University of Gothenburg},\n year = {2020},\n abstract = {Until relatively recently, a diagnosis of probable Alzheimer’s disease (AD) and other neurodegenerative disorders was principally based on clinical presentation, with post-mortem examination remaining a gold standard for disease confirmation. This is in sharp contrast to other areas of medicine, where fluid biomarkers, such as troponin levels in myocardial infarction, form an integral part of the diagnostic and treatment criteria. There is a pressing need for such quantifiable and easily accessible tools in neurodegenerative diseases.\n\nIn this paper, based on lectures given at the 2019 Biomarkers in Neurodegenerative Diseases Course, we provide an overview of a range of cerebrospinal fluid (CSF) and blood biomarkers in neurodegenerative disorders, including the ‘core’ AD biomarkers amyloid β (Aβ) and tau, as well as other disease-specific and general markers of neuroaxonal injury. We then highlight the main challenges in the field, and how those could be overcome with the aid of new methodological advances, such as assay automation, mass spectrometry and ultrasensitive immunoassays.\n\nAs we hopefully move towards an era of disease-modifying treatments, reliable biomarkers will be essential to increase diagnostic accuracy, allow for earlier diagnosis, better participant selection and disease activity and treatment effect monitoring.},\n doi = {10.1186/s13195-020-00586-6},\n mag_id = {3009087965},\n pmcid = {7049194},\n pmid = {32111242},\n}\n\n\n\n Until relatively recently, a diagnosis of probable Alzheimer’s disease (AD) and other neurodegenerative disorders was principally based on clinical presentation, with post-mortem examination remaining a gold standard for disease confirmation. This is in sharp contrast to other areas of medicine, where fluid biomarkers, such as troponin levels in myocardial infarction, form an integral part of the diagnostic and treatment criteria. There is a pressing need for such quantifiable and easily accessible tools in neurodegenerative diseases. In this paper, based on lectures given at the 2019 Biomarkers in Neurodegenerative Diseases Course, we provide an overview of a range of cerebrospinal fluid (CSF) and blood biomarkers in neurodegenerative disorders, including the ‘core’ AD biomarkers amyloid β (Aβ) and tau, as well as other disease-specific and general markers of neuroaxonal injury. We then highlight the main challenges in the field, and how those could be overcome with the aid of new methodological advances, such as assay automation, mass spectrometry and ultrasensitive immunoassays. As we hopefully move towards an era of disease-modifying treatments, reliable biomarkers will be essential to increase diagnostic accuracy, allow for earlier diagnosis, better participant selection and disease activity and treatment effect monitoring.\n
\n\n\n\n \n\n \n \n \n \n \n Plasma Cytokines Profile in Patients with Parkinson's Disease Associated with Mutations in GBA Gene.\n \n \n \n\n\n \n Miliukhina, I.; Miliukhina, I. V.; Miliukhina, I. V.; Miliukhina, I. V.; Miliukhina, I.; Usenko, T.; Usenko, T.; Usenko, T.; Senkevich, K.; Senkevich, K.; Senkevich, K. A.; Senkevich, K. A.; Senkevich, K. A.; Николаев, М.; Nikolaev, M. A.; Nikolaev, M.; Тимофеева, А. А.; Timofeeva, A A; Timofeeva, A. A.; Agapova, E.; Agapova, E. A.; Семенов, А. В.; Av, S.; Semenov, A. V.; Lubimova, N. E.; Lubimova, N. E.; Lubimova, N. E.; Totolyan, A. A.; Totolyan, A. A.; Aa, T.; Пчелина, С. Н.; Pchelina, S. N.; and Pchelina, S. N.\n\n\n \n\n\n\n Bulletin of Experimental Biology and Medicine. 2020.\n \n\n\n\n
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\n\n\n@Article{Miliukhina_2020,\n author = {Irina Miliukhina and I. V. Miliukhina and I. V. Miliukhina and I. V. Miliukhina and Irina Miliukhina and T. Usenko and T.S. Usenko and T.S. Usenko and Konstantin Senkevich and Konstantin Senkevich and K. A. Senkevich and K. A. Senkevich and K. A. Senkevich and Михаил Николаев and M. A. Nikolaev and M.A. Nikolaev and А. А. Тимофеева and A A Timofeeva and A. A. Timofeeva and Elizaveta Agapova and E. A. Agapova and А. В. Семенов and Semenov Av and A. V. Semenov and N. E. Lubimova and N. E. Lubimova and N. E. Lubimova and A. A. Totolyan and A. A. Totolyan and Totolyan Aa and С. Н. Пчелина and S. N. Pchelina and S. N. Pchelina},\n journal = {Bulletin of Experimental Biology and Medicine},\n title = {Plasma Cytokines Profile in Patients with Parkinson's Disease Associated with Mutations in GBA Gene.},\n year = {2020},\n abstract = {Plasma cytokine concentration in patients with Parkinson’s disease and mutation in GBA gene, in patients with sporadic Parkinson’s disease, and in healthy volunteers were measured by ELISA and multiplex analysis. In patients with Parkinson’s disease and mutation in GBA gene, elevated plasma concentrations of IL-1β and TNFα were revealed by ELISA in comparison with both controls and patients with sporadic form of Parkinson’s disease. Multiplex analysis revealed enhanced secretion of IL-1β, IL-2, IFNγ and reduced plasma levels of monocyte chemoattractant protein-1 (MCP-1) in patients with Parkinson’s disease and mutation in GBA gene (in comparison with other groups) and increased plasma levels of IL-13 (only in comparison with the healthy volunteers). Our results support the hypothesis that the concentrations of inflammatory mediators are increased in patients with Parkinson’s disease and mutation in GBA gene.},\n doi = {10.1007/s10517-020-04723-x},\n mag_id = {3012163045},\n pmcid = {null},\n pmid = {32146630},\n}\n\n\n\n Plasma cytokine concentration in patients with Parkinson’s disease and mutation in GBA gene, in patients with sporadic Parkinson’s disease, and in healthy volunteers were measured by ELISA and multiplex analysis. In patients with Parkinson’s disease and mutation in GBA gene, elevated plasma concentrations of IL-1β and TNFα were revealed by ELISA in comparison with both controls and patients with sporadic form of Parkinson’s disease. Multiplex analysis revealed enhanced secretion of IL-1β, IL-2, IFNγ and reduced plasma levels of monocyte chemoattractant protein-1 (MCP-1) in patients with Parkinson’s disease and mutation in GBA gene (in comparison with other groups) and increased plasma levels of IL-13 (only in comparison with the healthy volunteers). Our results support the hypothesis that the concentrations of inflammatory mediators are increased in patients with Parkinson’s disease and mutation in GBA gene.\n
\n\n\n\n \n\n \n \n \n \n \n Plasma cytokine profile in synucleinophaties with dementia.\n \n \n \n\n\n \n Usenko, T.; Usenko, T.; Usenko, T.; Николаев, М.; Nikolaev, M.; Miliukhina, I.; Miliukhina, I. V.; Miliukhina, I. V.; Miliukhina, I.; Bezrukova, A.; Bezrukova, A.; Senkevich, K.; Senkevich, K.; Senkevich, K. A.; Senkevich, K. A.; Senkevich, K. A.; Gomzyakova, N. A.; Gomzyakova, N.; Beltceva, I. A; Beltceva, Y.; Zalutskaya, N. M.; Zalutskaya, N.; Gracheva, E.; Gracheva, E.; Тимофеева, А. А.; Timofeeva, A A; Timofeeva, A. A.; Petrova, O. A.; Petrova, O. A.; Семенов, А. В.; Semenov, A.; Semenov, A. V.; Lubimova, N. E.; Lubimova, N. E.; Totolyan, A. A.; Totolyan, A.; Totolyan, A.; Пчелина, С. Н.; Pchelina, S.; and Pchelina, S. N.\n\n\n \n\n\n\n Journal of Clinical Neuroscience. 2020.\n \n\n\n\n
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\n\n\n@Article{Usenko_2020,\n author = {Tatiana Usenko and T.S. Usenko and T.S. Usenko and Михаил Николаев and M.A. Nikolaev and Irina Miliukhina and I. V. Miliukhina and I. V. Miliukhina and Irina Miliukhina and Anastasia Bezrukova and A.I. Bezrukova and Konstantin Senkevich and Konstantin Senkevich and K. A. Senkevich and K. A. Senkevich and K. A. Senkevich and N. A. Gomzyakova and N.A. Gomzyakova and Iuliia A Beltceva and Y.A. Beltceva and N. M. Zalutskaya and N.M. Zalutskaya and E. Gracheva and E.V. Gracheva and А. А. Тимофеева and A A Timofeeva and A. A. Timofeeva and Olga A. Petrova and O. A. Petrova and А. В. Семенов and A.V. Semenov and A. V. Semenov and N. E. Lubimova and N. E. Lubimova and A. A. Totolyan and A.A. Totolyan and A.A. Totolyan and С. Н. Пчелина and S.N. Pchelina and S. N. Pchelina},\n journal = {Journal of Clinical Neuroscience},\n title = {Plasma cytokine profile in synucleinophaties with dementia.},\n year = {2020},\n abstract = {null},\n doi = {10.1016/j.jocn.2020.04.058},\n mag_id = {3020404326},\n pmcid = {null},\n pmid = {32336641},\n}\n\n\n\n null\n
\n\n\n\n \n\n \n \n \n \n \n Postural instability and neuropsychiatric disturbance in the overlapping phenotype of essential tremor and Parkinson's Disease.\n \n \n \n\n\n \n Kudrevatykh, A.; Kudrevatykh, A.; Senkevich, K.; Senkevich, K.; Senkevich, K.; Miliukhina, I.; Miliukhina, I.; and Miliukhina, I.\n\n\n \n\n\n\n Neurophysiologie Clinique-clinical Neurophysiology. 2020.\n \n\n\n\n
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\n\n\n@Article{Kudrevatykh_2020,\n author = {Anastasia Kudrevatykh and Anastasia Kudrevatykh and Konstantin Senkevich and Konstantin Senkevich and Konstantin Senkevich and Irina Miliukhina and Irina Miliukhina and Irina Miliukhina},\n journal = {Neurophysiologie Clinique-clinical Neurophysiology},\n title = {Postural instability and neuropsychiatric disturbance in the overlapping phenotype of essential tremor and Parkinson's Disease.},\n year = {2020},\n abstract = {null},\n doi = {10.1016/j.neucli.2020.07.001},\n mag_id = {3081917364},\n pmcid = {null},\n pmid = {32873435},\n}\n\n\n\n null\n
\n\n\n\n \n\n \n \n \n \n \n Erratum correction to relevance of biomarkers across different neurodegenerative diseases alzheimer s research therapy 2020 12 1 56.\n \n \n \n\n\n \n Usenko, T.; Usenko, T.; Tatiana, S.; Tatiana, S U.; Bezrukova, A.; Bezrukova, A.; Anastasia, I B.; Anastasia, I B.; Bogdanova, D.; Bogdanova, D.; Darya, A B.; Darya, A B.; Николаев, М.; Nikolaev, M.; Mikhail, A N.; Mikhail, A N.; Miliukhina, I.; Miliukhina, I.; Irina, V M.; Irina, V M.; Gracheva, E.; Gracheva, E.; Elizaveta, V G.; Elizaveta, V G.; Senkevich, K.; Senkevich, K.; Konstantin, A S.; Konstantin, A S.; Zakharova, E.; Zakharova, E.; Yu., Z. E.; Yu., Z. E.; Anton, E.; Emelyanov, A.; Anton, K.; Anton, K E.; Пчелина, С. Н.; Pchelina, S.; Sofya, N P.; and Sofya, N P.\n\n\n \n\n\n\n Alzheimer's Research & Therapy. 2020.\n \n\n\n\n
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\n\n\n@Article{undefined_2020,\n author = {Tatiana Usenko and T.S. Usenko and Shiryaeva Tatiana and S Usenko Tatiana and Anastasia Bezrukova and Anastasia Bezrukova and I Bezrukova Anastasia and I Bezrukova Anastasia and D. Bogdanova and Darya Bogdanova and A Bogdanova Darya and A Bogdanova Darya and Михаил Николаев and M.A. Nikolaev and A Nikolaev Mikhail and A Nikolaev Mikhail and Irina Miliukhina and Irina Miliukhina and V Miliukhina Irina and V Miliukhina Irina and E. Gracheva and Elizaveta Gracheva and V Gracheva Elizaveta and V Gracheva Elizaveta and K. Senkevich and Konstantin Senkevich and A Senkevich Konstantin and A Senkevich Konstantin and Ekaterina Zakharova and Ekaterina Zakharova and Zakharova Ekaterina Yu. and Zakharova Ekaterina Yu. and Emil Anton and A. Emelyanov and Kristin Anton and K Emelyanov Anton and С. Н. Пчелина and S.N. Pchelina and N Pchelina Sofya and N Pchelina Sofya},\n journal = {Alzheimer's Research & Therapy},\n title = {Erratum correction to relevance of biomarkers across different neurodegenerative diseases alzheimer s research therapy 2020 12 1 56},\n year = {2020},\n abstract = {null},\n doi = {10.1186/s13195-020-00637-y},\n mag_id = {3049596277},\n pmcid = {null},\n pmid = {null},\n}\n\n\n\n null\n
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\n \n \n\n \n \n \n \n \n Autophagy lysosomal pathway dysfunction in Parkinson's disease; evidence from human genetics.\n \n \n \n\n\n \n Senkevich, K.; Senkevich, K.; Senkevich, K.; Rouleau, G. A.; Gan‐Or, Z.; and Gan-Or, Z.\n\n\n \n\n\n\n Parkinsonism & Related Disorders. 2019.\n \n\n\n\n
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\n\n\n@Article{Senkevich_2019,\n author = {Konstantin Senkevich and Konstantin Senkevich and Konstantin Senkevich and Guy A. Rouleau and Ziv Gan‐Or and Ziv Gan-Or},\n journal = {Parkinsonism & Related Disorders},\n title = {Autophagy lysosomal pathway dysfunction in Parkinson's disease; evidence from human genetics.},\n year = {2019},\n abstract = {Abstract In recent years, multiple lines of evidence from human genetic and molecular studies have highlighted the importance of the autophagy lysosomal pathway (ALP) in Parkinson's disease (PD). Genes such as GBA and LRRK2, which harbor some of the most common mutations associated with PD, have essential roles in the ALP. α-synuclein, encoded by the SNCA gene, is degraded mainly by the ALP, and mutations/multiplications in SNCA may lead to impairment of chaperone mediated autophagy or other ALP functions. Numerous other PD-related genes, such as PRKN, PINK1, TMEM175, SMPD1, CTSD, CTSB and many more, have also been reported to have important roles in the ALP. Understanding the relationship between ALP impairment and PD pathogenesis may be crucial for uncovering the mechanisms underlying PD, and for the development of long-awaited neuroprotective therapies. In this review, we will discuss the data linking the ALP to PD (other, atypical forms of Parkinsonism, will not be discussed in this review). We will focus on evidence from studies on specific genes and proteins, their roles in the ALP, and the potential mechanisms underlying the involvement of these genes in PD.},\n doi = {10.1016/j.parkreldis.2019.11.015},\n mag_id = {2984058577},\n pmcid = {null},\n pmid = {31761667},\n}\n\n\n\n Abstract In recent years, multiple lines of evidence from human genetic and molecular studies have highlighted the importance of the autophagy lysosomal pathway (ALP) in Parkinson's disease (PD). Genes such as GBA and LRRK2, which harbor some of the most common mutations associated with PD, have essential roles in the ALP. α-synuclein, encoded by the SNCA gene, is degraded mainly by the ALP, and mutations/multiplications in SNCA may lead to impairment of chaperone mediated autophagy or other ALP functions. Numerous other PD-related genes, such as PRKN, PINK1, TMEM175, SMPD1, CTSD, CTSB and many more, have also been reported to have important roles in the ALP. Understanding the relationship between ALP impairment and PD pathogenesis may be crucial for uncovering the mechanisms underlying PD, and for the development of long-awaited neuroprotective therapies. In this review, we will discuss the data linking the ALP to PD (other, atypical forms of Parkinsonism, will not be discussed in this review). We will focus on evidence from studies on specific genes and proteins, their roles in the ALP, and the potential mechanisms underlying the involvement of these genes in PD.\n
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