Dysfunctional γ-Secretase in Familial Alzheimer’s Disease
Sign Up to like & getrecommendations! Published in 2018 at "Neurochemical Research"
DOI: 10.1007/s11064-018-2511-1
Abstract: Genetics strongly implicate the amyloid β-peptide (Aβ) in the pathogenesis of Alzheimer’s disease. Dominant missense mutation in the presenilins and the amyloid precursor protein (APP) cause early-onset familial Alzheimer’s disease (FAD). As presenilin is the… read more here.
Keywords: alzheimer disease; familial alzheimer; secretase; dysfunctional secretase ... See more keywords
Familial Alzheimer’s Disease and Recessive Modifiers
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Neurobiology"
DOI: 10.1007/s12035-019-01798-0
Abstract: Alzheimer’s disease (AD) is progressive brain disorder that affects ~ 50 million people worldwide and has no current effective treatment. AD age of onset (ADAOO) has shown to be critical for the identification of genes… read more here.
Keywords: disease recessive; etiology; alzheimer disease; familial alzheimer ... See more keywords
In search of pathogenic amyloid β-peptide in familial Alzheimer's disease.
Sign Up to like & getrecommendations! Published in 2019 at "Progress in molecular biology and translational science"
DOI: 10.1016/bs.pmbts.2019.07.002
Abstract: Early-onset familial Alzheimer's disease (FAD) is pathologically and clinically similar to the more common late-onset sporadic form of the disease. The study of rare genetic mutations that cause FAD should provide insight into the pathogenesis… read more here.
Keywords: alzheimer disease; familial alzheimer; amyloid peptide; disease ... See more keywords
Pathogenic Aβ generation in familial Alzheimer’s disease: novel mechanistic insights and therapeutic implications
Sign Up to like & getrecommendations! Published in 2020 at "Current Opinion in Neurobiology"
DOI: 10.1016/j.conb.2020.01.011
Abstract: Neurotoxic amyloid-β peptide (Aβ) 42/43 species generated by β-secretase and γ-secretase from the β-amyloid precursor protein (APP) are believed to trigger Alzheimer's disease (AD). Relative increases of these species due to mutations in APP and… read more here.
Keywords: alzheimer disease; familial alzheimer; generation familial; pathogenic generation ... See more keywords
Mutation profile of APP, PSEN1, and PSEN2 in Chinese familial Alzheimer's disease
Sign Up to like & getrecommendations! Published in 2019 at "Neurobiology of Aging"
DOI: 10.1016/j.neurobiolaging.2019.01.018
Abstract: Causative mutations in the genes encoding amyloid precursor protein (APP), presenilin 1 (PSEN1), or presenilin 2 (PSEN2) account for a majority of cases of familial Alzheimer disease (FAD) inherited in an autosomal-dominant pattern. For the… read more here.
Keywords: psen1 psen2; alzheimer disease; app psen1; familial alzheimer ... See more keywords
Selective ferroptosis vulnerability due to familial Alzheimer's disease presenilin mutations.
Sign Up to like & getrecommendations! Published in 2022 at "Cell death and differentiation"
DOI: 10.1038/s41418-022-01003-1
Abstract: Mutations in presenilin 1 and 2 (PS1 and PS2) cause autosomal dominant familial Alzheimer's disease (FAD). Ferroptosis has been implicated as a mechanism of neurodegeneration in AD since neocortical iron burden predicts Alzheimer's disease (AD)… read more here.
Keywords: familial alzheimer; alzheimer disease; ferroptosis; presenilin mutations ... See more keywords
Facilitation of glutamate, but not GABA, release in Familial Alzheimer's APP mutant Knock‐in rats with increased β‐cleavage of APP
Sign Up to like & getrecommendations! Published in 2019 at "Aging Cell"
DOI: 10.1111/acel.13033
Abstract: Amyloid precursor protein (APP) modulates glutamate release via cytoplasmic and intravesicular interactions with the synaptic vesicle release machinery. The intravesicular domain, called ISVAID, contains the BACE1 cleavage site of APP. We have tested the functional… read more here.
Keywords: knock rats; cleavage; familial alzheimer; app ... See more keywords
Elevated cellular cholesterol in Familial Alzheimer’s presenilin 1 mutation is associated with lipid raft localization of β-amyloid precursor protein
Sign Up to like & getrecommendations! Published in 2019 at "PLoS ONE"
DOI: 10.1371/journal.pone.0210535
Abstract: Familial Alzheimer’s disease (FAD)-associated presenilin 1 (PS1) serves as a catalytic subunit of γ-secretase complex, which mediates the proteolytic liberation of β-amyloid (Aβ) from β-amyloid precursor protein (APP). In addition to its proteolytic role, PS1… read more here.
Keywords: ps1; amyloid; familial alzheimer; cholesterol ... See more keywords