A presenilin-1 truncating mutation is present in two cases with autopsy-confirmed early-onset Alzheimer disease.
about
Tailoring of membrane proteins by alternative splicing of pre-mRNA.Alzheimer's disease phenotypes and genotypes associated with mutations in presenilin 2.Linkage detection adaptive to linkage disequilibrium: the disequilibrium maximum-likelihood-binomial test for affected-sibship data.Presenilin 2 is the predominant γ-secretase in microglia and modulates cytokine releaseEarly-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrumExome sequencing identifies 2 novel presenilin 1 mutations (p.L166V and p.S230R) in British early-onset Alzheimer's diseaseBiomarkers of neurodegenerative disorders: how good are they?Genetics, transcriptomics, and proteomics of Alzheimer's diseaseWorldwide distribution of PSEN1 Met146Leu mutation: a large variability for a founder mutationSequence analyses of presenilin mutations linked to familial Alzheimer's disease.An upstream element containing an ETS binding site is crucial for transcription of the human presenilin-1 gene.Interference with splicing of Presenilin transcripts has potent dominant negative effects on Presenilin activity.Increased production of beta-amyloid and vulnerability to endoplasmic reticulum stress by an aberrant spliced form of presenilin 2.Aberrant splicing in the presenilin-1 intron 4 mutation causes presenile Alzheimer's disease by increased Abeta42 secretion.Induced HMGA1a expression causes aberrant splicing of Presenilin-2 pre-mRNA in sporadic Alzheimer's disease.New V272A presenilin 1 mutation with very early onset subcortical dementia and parkinsonism.A novel presenilin-2 splice variant in human Alzheimer's disease brain tissue.Carbon-11-Pittsburgh compound B positron emission tomography imaging of amyloid deposition in presenilin 1 mutation carriers.p.Thr116Ile Variant in Two Korean Families with Young Onset Alzheimer's Disease
P2860
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P2860
A presenilin-1 truncating mutation is present in two cases with autopsy-confirmed early-onset Alzheimer disease.
description
1998 nî lūn-bûn
@nan
1998 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
A presenilin-1 truncating muta ...... early-onset Alzheimer disease.
@ast
A presenilin-1 truncating muta ...... early-onset Alzheimer disease.
@en
A presenilin-1 truncating muta ...... early-onset Alzheimer disease.
@nl
type
label
A presenilin-1 truncating muta ...... early-onset Alzheimer disease.
@ast
A presenilin-1 truncating muta ...... early-onset Alzheimer disease.
@en
A presenilin-1 truncating muta ...... early-onset Alzheimer disease.
@nl
prefLabel
A presenilin-1 truncating muta ...... early-onset Alzheimer disease.
@ast
A presenilin-1 truncating muta ...... early-onset Alzheimer disease.
@en
A presenilin-1 truncating muta ...... early-onset Alzheimer disease.
@nl
P2093
P2860
P356
P1476
A presenilin-1 truncating muta ...... early-onset Alzheimer disease.
@en
P2093
Rubinsztein DC
Van Broeckhoven C
Whittaker J
P2860
P356
10.1086/301672
P407
P577
1998-01-01T00:00:00Z