The solved and unsolved mysteries of the genetics of early-onset Alzheimer's disease (Q34851974)

4 August 2017

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title

The solved and unsolved mysteries of the genetics of early-onset Alzheimer's disease (English)

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4 August 2017

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Ekaterina Rogaeva

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4 August 2017

publication date

1 January 2002

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4 August 2017

published in

NeuroMolecular Medicine

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4 August 2017

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4 August 2017

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4 August 2017

page(s)

1-10

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Mutations associated with a locus for familial Alzheimer's disease result in alternative processing of amyloid beta-protein precursor.

4 August 2017

cites work

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12 December 2020

Nicastrin modulates presenilin-mediated notch/glp-1 signal transduction and betaAPP processing

1 reference

12 December 2020

Effects of age, sex, and ethnicity on the association between apolipoprotein E genotype and Alzheimer disease. A meta-analysis. APOE and Alzheimer Disease Meta Analysis Consortium

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12 December 2020

Variable phenotype of Alzheimer's disease with spastic paraparesis.

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12 December 2020

Enhanced neurofibrillary degeneration in transgenic mice expressing mutant tau and APP.

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12 December 2020

APOE genotype does not modulate age of onset in families with chromosome 14 encoded Alzheimer's disease.

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12 December 2020

Apolipoprotein E: high-avidity binding to beta-amyloid and increased frequency of type 4 allele in late-onset familial Alzheimer disease

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12 December 2020

Excessive production of amyloid beta-protein by peripheral cells of symptomatic and presymptomatic patients carrying the Swedish familial Alzheimer disease mutation

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12 December 2020

Presenilin Proteins Undergo Heterogeneous Endoproteolysis between Thr291and Ala299and Occur as Stable N- and C-Terminal Fragments in Normal and Alzheimer Brain Tissue

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12 December 2020

Full genome screen for Alzheimer disease: Stage II analysis

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12 December 2020

The gene encoding nicastrin, a major gamma-secretase component, modifies risk for familial early-onset Alzheimer disease in a Dutch population-based sample

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12 December 2020

Transcriptional regulation of Alzheimer's disease genes: implications for susceptibility

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12 December 2020

Alzheimer's disease: the amyloid cascade hypothesis

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12 December 2020

Linkage studies in familial Alzheimer disease: evidence for chromosome 19 linkage

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12 December 2020

Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease

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12 December 2020

Cotton wool plaques in non-familial late-onset Alzheimer disease

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12 December 2020

The Glu318Gly mutation of the presenilin-1 gene does not necessarily cause Alzheimer's disease.

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12 December 2020

Production of the Alzheimer amyloid beta protein by normal proteolytic processing

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12 December 2020

The multiple paradoxes of presenilins

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12 December 2020

An increased percentage of long amyloid beta protein secreted by familial amyloid beta protein precursor (beta APP717) mutants.

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12 December 2020

Variant Alzheimer's disease with spastic paraparesis and cotton wool plaques is caused by PS-1 mutations that lead to exceptionally high amyloid-beta concentrations

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12 December 2020

Molecular genetics of Alzheimer's disease: the role of beta-amyloid and the presenilins.

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12 December 2020

Identification of a novel 4.6-kb genomic deletion in presenilin-1 gene which results in exclusion of exon 9 in a Finnish early onset Alzheimer's disease family: an Alu core sequence-stimulated recombination?

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12 December 2020

gamma -Secretase cleavage and nuclear localization of ErbB-4 receptor tyrosine kinase

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12 December 2020

The gene encoding DRAP (BACE2), a glycosylated transmembrane protein of the aspartic protease family, maps to the down critical region

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12 December 2020

A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N-terminus of beta-amyloid

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12 December 2020

The 'Arctic' APP mutation (E693G) causes Alzheimer's disease by enhanced Abeta protofibril formation

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12 December 2020

Genetic variability in the regulatory region of presenilin 1 associated with risk for Alzheimer's disease and variable expression

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12 December 2020

A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1.

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12 December 2020

Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease

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12 December 2020

ApoE genotype is a risk factor in nonpresenilin early-onset Alzheimer's disease families

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12 December 2020

A founder mutation in presenilin 1 causing early-onset Alzheimer disease in unrelated Caribbean Hispanic families

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12 December 2020

Mutation of the conserved N-terminal cysteine (Cys92) of human presenilin 1 causes increased A beta42 secretion in mammalian cells but impaired Notch/lin-12 signalling in C. elegans

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12 December 2020

A familial Alzheimer's disease locus on chromosome 1.

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12 December 2020

A loss of function mutation of presenilin-2 interferes with amyloid beta-peptide production and notch signaling

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12 December 2020

Wide range in age of onset for chromosome 1--related familial Alzheimer's disease

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12 December 2020

Endoproteolysis of presenilin 1 and accumulation of processed derivatives in vivo

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12 December 2020

Mutant presenilins of Alzheimer's disease increase production of 42-residue amyloid beta-protein in both transfected cells and transgenic mice

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12 December 2020

Nuclear signaling: a common function of presenilin substrates?

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12 December 2020

Beta-secretase cleavage of Alzheimer's amyloid precursor protein by the transmembrane aspartic protease BACE

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12 December 2020

Two transmembrane aspartates in presenilin-1 required for presenilin endoproteolysis and gamma-secretase activity

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12 December 2020

Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations

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12 December 2020

Seeding "one-dimensional crystallization" of amyloid: a pathogenic mechanism in Alzheimer's disease and scrapie?

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12 December 2020

A presenilin-1-dependent gamma-secretase-like protease mediates release of Notch intracellular domain

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12 December 2020

Proteolytic release and nuclear translocation of Notch-1 are induced by presenilin-1 and impaired by pathogenic presenilin-1 mutations

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12 December 2020

Genetic factors in the genesis of Alzheimer's disease

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12 December 2020

Expression analysis of BACE2 in brain and peripheral tissues

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12 December 2020

Murine notch homologs (N1-4) undergo presenilin-dependent proteolysis

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12 December 2020

Mutations in the open reading frame of the beta-site APP cleaving enzyme (BACE) locus are not a common cause of Alzheimer's disease.

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12 December 2020

A presenilin 1 mutation associated with familial frontotemporal dementia inhibits gamma-secretase cleavage of APP and notch.

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12 December 2020

Alzheimer's disease and possible gene interaction.

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12 December 2020

Mutation of the beta-amyloid precursor protein in familial Alzheimer's disease increases beta-protein production

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12 December 2020

Alzheimer's disease associated with mutations in presenilin 2 is rare and variably penetrant.

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12 December 2020

Genome-wide detection of alternative splicing in expressed sequences of human genes

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12 December 2020

Amyloid, the presenilins and Alzheimer's disease

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12 December 2020

A pathogenic presenilin-1 deletion causes abberrant Abeta 42 production in the absence of congophilic amyloid plaques

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12 December 2020

Estimation of the Genetic Contribution of Presenilin-1 and -2 Mutations in a Population-Based Study of Presenile Alzheimer Disease

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12 December 2020

Apolipoprotein E and Alzheimer's disease. The tip of the susceptibility iceberg

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12 December 2020

Formation of neurofibrillary tangles in P301l tau transgenic mice induced by Abeta 42 fibrils

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12 December 2020

Amyloid beta secretase gene (BACE) is neither mutated in nor associated with early-onset Alzheimer's disease

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12 December 2020

Separation of presenilin function in amyloid beta-peptide generation and endoproteolysis of Notch

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12 December 2020

Presenilin-1 differentially facilitates endoproteolysis of the beta-amyloid precursor protein and Notch

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12 December 2020

Secreted amyloid beta-protein similar to that in the senile plaques of Alzheimer's disease is increased in vivo by the presenilin 1 and 2 and APP mutations linked to familial Alzheimer's disease

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12 December 2020

Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene

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12 December 2020

Unusual phenotypic alteration of beta amyloid precursor protein (betaAPP) maturation by a new Val-715 --> Met betaAPP-770 mutation responsible for probable early-onset Alzheimer's disease

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12 December 2020

A new pathogenic mutation in the APP gene (I716V) increases the relative proportion of A beta 42(43)

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12 December 2020

Tau is a candidate gene for chromosome 17 frontotemporal dementia

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12 December 2020

Conservation of the biochemical mechanisms of signal transduction among mammalian Notch family members

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12 December 2020

Association of apolipoprotein E allele epsilon 4 with late-onset familial and sporadic Alzheimer's disease

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12 December 2020

Identifiers

DOI

10.1385/NMM:2:1:01

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Dimensions Publication ID

4 August 2017

1043799273

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