Loss‐of‐function presenilin mutations in Alzheimer disease
نویسندگان
چکیده
منابع مشابه
Presenilin mutations in familial Alzheimer disease and transgenic mouse models accelerate neuronal lysosomal pathology.
The neuronal lysosomal system is a major degradative pathway, induced by cell stress and closely linked to Alzheimer disease (AD) and other neurodegenerative diseases. Here, we show that mutations of presenilin (PS) 1 and 2, which cause familial early-onset AD (FAD), induce more severe lysosomal system neuropathology in humans than does sporadic AD (SAD). Cathepsin D and B levels were higher in...
متن کاملFamilial Alzheimer disease-linked mutations specifically disrupt Ca2+ leak function of presenilin 1.
Mutations in presenilins are responsible for approximately 40% of all early-onset familial Alzheimer disease (FAD) cases in which a genetic cause has been identified. In addition, a number of mutations in presenilin-1 (PS1) have been suggested to be associated with the occurrence of frontal temporal dementia (FTD). Presenilins are highly conserved transmembrane proteins that support cleavage of...
متن کاملPresenilin-1 mutations and Alzheimer's disease.
Mutations in the PSEN1 gene, encoding presenilin-1 (PS1), are themost common cause of familial Alzheimer’s disease (FAD). PS1 functions as the catalytic subunit of γ-secretase, an intramembranous protease that cleaves a variety of type 1 transmembrane proteins, notably including the amyloid precursor protein (APP) and Notch. Following prior cleavage by β-secretase, processing of APP by γ-secret...
متن کاملNo association between a presenilin 1 polymorphism and Alzheimer disease.
BACKGROUND Homozygosity of allele 1 of a presenilin 1 intron 8 polymorphism (PS1-1) has been associated with doubling of the risk of sporadic late-onset Alzheimer disease (LOAD), in some, but not all studies. OBJECTIVE To genotype the PS1 intron 8 polymorphism in predominantly Hispanic families with LOAD to test for association and for linkage between this polymorphism and LOAD. DESIGN A fa...
متن کاملCell surface expression of the Alzheimer disease-related presenilin proteins.
The presenilin proteins PS-1 and PS-2 are crucially involved in Alzheimer disease (AD), but their molecular functions are not known. They are integral membrane proteins, but whether they can be expressed at the surface of cells has been in dispute. Here we show by immunofluorescence experiments, using anti-peptide antibodies specific for either PS-1 or PS-2, that live cultured DAMI cells and di...
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ژورنال
عنوان ژورنال: EMBO reports
سال: 2007
ISSN: 1469-221X,1469-3178
DOI: 10.1038/sj.embor.7400897