Is the urea cycle involved in Alzheimer's disease?. Hansmannel, F., Sillaire, A., Kamboh, M. I., Lendon, C., Pasquier, F., Hannequin, D., Laumet, G., Mounier, A., Ayral, A., DeKosky, S. T., Hauw, J., Berr, C., Mann, D., Amouyel, P., Campion, D., & Lambert, J. Journal of Alzheimer's disease: JAD, 21(3):1013–1021, 2010.
doi  abstract   bibtex   
Since previous observations indicated that the urea cycle may have a role in the Alzheimer's disease (AD) process, we set out to quantify the expression of each gene involved in the urea cycle in control and AD brains and establish whether these genes could be genetic determinants of AD. We first confirmed that all the urea cycle enzyme genes are expressed in the AD brain. The expression of arginase 2 was greater in the AD brain than in the control brain. The presence of the rare arginase 2 allele rs742869 was associated with an increase in the risk of AD in men and with an earlier age-at-onset for both genders. None of the other genes in the pathway appeared to be differentially expressed in the AD brain or act as genetic determinants of the disease.
@article{hansmannel_is_2010,
	title = {Is the urea cycle involved in {Alzheimer}'s disease?},
	volume = {21},
	issn = {1875-8908},
	doi = {10.3233/JAD-2010-100630},
	abstract = {Since previous observations indicated that the urea cycle may have a role in the Alzheimer's disease (AD) process, we set out to quantify the expression of each gene involved in the urea cycle in control and AD brains and establish whether these genes could be genetic determinants of AD. We first confirmed that all the urea cycle enzyme genes are expressed in the AD brain. The expression of arginase 2 was greater in the AD brain than in the control brain. The presence of the rare arginase 2 allele rs742869 was associated with an increase in the risk of AD in men and with an earlier age-at-onset for both genders. None of the other genes in the pathway appeared to be differentially expressed in the AD brain or act as genetic determinants of the disease.},
	language = {eng},
	number = {3},
	journal = {Journal of Alzheimer's disease: JAD},
	author = {Hansmannel, Franck and Sillaire, Adeline and Kamboh, M. Ilyas and Lendon, Corinne and Pasquier, Florence and Hannequin, Didier and Laumet, Geoffroy and Mounier, Anais and Ayral, Anne-Marie and DeKosky, Steven T. and Hauw, Jean-Jacques and Berr, Claudine and Mann, David and Amouyel, Philippe and Campion, Dominique and Lambert, Jean-Charles},
	year = {2010},
	pmid = {20693631},
	pmcid = {PMC2945690},
	keywords = {Aged, Alzheimer Disease, Humans, Female, Male, Middle Aged, Brain, Aged, 80 and over, Chi-Square Distribution, Risk Factors, Alleles, Genotype, Case-Control Studies, Genetic Association Studies, Arginase, Urea},
	pages = {1013--1021}
}

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