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dc.contributor.authorVetrivel, K. S.zh_CN
dc.contributor.authorZhang, Y. W.zh_CN
dc.contributor.authorXu, H. X.zh_CN
dc.contributor.authorThinakaran, G.zh_CN
dc.contributor.author张云武zh_CN
dc.date.accessioned2013-12-12T02:25:42Z
dc.date.available2013-12-12T02:25:42Z
dc.date.issued2006zh_CN
dc.identifier.citationMolecular Neurodegeneration,1zh_CN
dc.identifier.issn1750-1326zh_CN
dc.identifier.otherISI:000206894900004zh_CN
dc.identifier.urihttps://dspace.xmu.edu.cn/handle/2288/66005
dc.description.abstractMutations in PSEN1 and PSEN2 genes account for the majority of cases of early-onset familial Alzheimer disease. Since the first prediction of a genetic link between PSEN1 and PSEN2 with Alzheimer's disease, many research groups from both academia and pharmaceutical industry have sought to unravel how pathogenic mutations in PSEN cause presenile dementia. PSEN genes encode polytopic membrane proteins termed presenilins (PS1 and PS2), which function as the catalytic subunit of gamma-secretase, an intramembrane protease that has a wide spectrum of type I membrane protein substrates. Sequential cleavage of amyloid precursor protein by BACE and gamma-secretase releases highly fibrillogenic beta-amyloid peptides, which accumulate in the brains of aged individuals and patients with Alzheimer's disease. Familial Alzheimer's disease-associated presenilin variants are thought to exert their pathogenic function by selectively elevating the levels of highly amyloidogenic A beta 42 peptides. In addition to Alzheimer's disease, several recent studies have linked PSEN1 to familiar frontotemporal dementia. Here, we review the biology of PS1, its role in gamma-secretase activity, and discuss recent developments in the cell biology of PS1 with respect to Alzheimer's disease pathogenesis.zh_CN
dc.language.isoen_USzh_CN
dc.titlePathological and physiological functions of presenilinszh_CN
dc.typeArticlezh_CN


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