Alzheimer's disease-linked mutations in presenilin-1 result in a drastic loss of activity in purified γ-secretase complexes (Q31057900)

11 August 2017

Alzheimer's disease-linked mutations in presenilin-1 result in a drastic loss of activity in purified γ-secretase complexes (English)

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11 August 2017

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Patrick C Fraering

4

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author name string

Matthias Cacquevel

series ordinal

1

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11 August 2017

Lorène Aeschbach

series ordinal

2

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11 August 2017

Jemila Houacine

series ordinal

3

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11 August 2017

language of work or name

English

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publication date

18 April 2012

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11 August 2017

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11 August 2017

7

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11 August 2017

4

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11 August 2017

e35133

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Creative Commons Attribution 4.0 International

11 August 2017

start time

18 April 2012

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

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Processing of the synaptic cell adhesion molecule neurexin-3beta by Alzheimer disease alpha- and gamma-secretases

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Gamma-secretase activating protein is a therapeutic target for Alzheimer's disease

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Presenilin 1 mutants impair the self-renewal and differentiation of adult murine subventricular zone-neuronal progenitors via cell-autonomous mechanisms involving notch signaling

14 July 2018

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A presenilin-1 mutation identified in familial Alzheimer disease with cotton wool plaques causes a nearly complete loss of gamma-secretase activity

14 July 2018

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Aberrant amyloid precursor protein (APP) processing in hereditary forms of Alzheimer disease caused by APP familial Alzheimer disease mutations can be rescued by mutations in the APP GxxxG motif

14 July 2018

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gamma-Secretase heterogeneity in the Aph1 subunit: relevance for Alzheimer's disease

14 July 2018

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Gamma-secretase catalyzes sequential cleavages of the AbetaPP transmembrane domain.

14 July 2018

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Cryoelectron microscopy structure of purified gamma-secretase at 12 A resolution

14 July 2018

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Presenilins: members of the gamma-secretase quartets, but part-time soloists too.

14 July 2018

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The ratio of monomeric to aggregated forms of Abeta40 and Abeta42 is an important determinant of amyloid-beta aggregation, fibrillogenesis, and toxicity

14 July 2018

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Substrate specificity of gamma-secretase and other intramembrane proteases

14 July 2018

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Rapid purification of active gamma-secretase, an intramembrane protease implicated in Alzheimer's disease

14 July 2018

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Amyloid precursor protein regulates brain apolipoprotein E and cholesterol metabolism through lipoprotein receptor LRP1

14 July 2018

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Familial Alzheimer disease-linked mutations specifically disrupt Ca2+ leak function of presenilin 1

14 July 2018

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Presenilin diversifies its portfolio.

14 July 2018

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Biological effects of four PSEN1 gene mutations causing Alzheimer disease with spastic paraparesis and cotton wool plaques

14 July 2018

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Abeta42-driven cerebral amyloidosis in transgenic mice reveals early and robust pathology

14 July 2018

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Mean age-of-onset of familial alzheimer disease caused by presenilin mutations correlates with both increased Abeta42 and decreased Abeta40.

14 July 2018

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TMP21 is a presenilin complex component that modulates gamma-secretase but not epsilon-secretase activity

14 July 2018

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Electron microscopic structure of purified, active gamma-secretase reveals an aqueous intramembrane chamber and two pores

14 July 2018

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Presenilin clinical mutations can affect gamma-secretase activity by different mechanisms

14 July 2018

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Presenilin-dependent transcriptional control of the Abeta-degrading enzyme neprilysin by intracellular domains of betaAPP and APLP

14 July 2018

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Longer forms of amyloid beta protein: implications for the mechanism of intramembrane cleavage by gamma-secretase.

14 July 2018

1 reference

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Purification and characterization of the human gamma-secretase complex

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3329438

Loss of presenilin function causes impairments of memory and synaptic plasticity followed by age-dependent neurodegeneration

14 July 2018

1 reference

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A novel highly pathogenic Alzheimer presenilin-1 mutation in codon 117 (Pro117Ser): Comparison of clinical, neuropathological and cell culture phenotypes of Pro117Leu and Pro117Ser mutations

14 July 2018

1 reference

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Detergent-dependent dissociation of active gamma-secretase reveals an interaction between Pen-2 and PS1-NTF and offers a model for subunit organization within the complex

14 July 2018

1 reference

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Intramembrane-cleaving proteases: controlled liberation of proteins and bioactive peptides

14 July 2018

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Distinct mechanisms by mutant presenilin 1 and 2 leading to increased intracellular levels of amyloid beta-protein 42 in Chinese hamster ovary cells

14 July 2018

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Presenilin-1 mutations of leucine 166 equally affect the generation of the Notch and APP intracellular domains independent of their effect on Abeta 42 production

14 July 2018

1 reference

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Presenilin-1 P264L knock-in mutation: differential effects on abeta production, amyloid deposition, and neuronal vulnerability.

14 July 2018

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Presenilin 2 deficiency causes a mild pulmonary phenotype and no changes in amyloid precursor protein processing but enhances the embryonic lethal phenotype of presenilin 1 deficiency

14 July 2018

1 reference

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3329438

The biological and pathological function of the presenilin-1 Deltaexon 9 mutation is independent of its defect to undergo proteolytic processing

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3329438

Additive effects of PS1 and APP mutations on secretion of the 42-residue amyloid beta-protein.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3329438

Increased Abeta42(43) from cell lines expressing presenilin 1 mutations.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3329438

Accelerated Alzheimer-type phenotype in transgenic mice carrying both mutant amyloid precursor protein and presenilin 1 transgenes

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3329438

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3329438

Increased amyloid-beta42(43) in brains of mice expressing mutant presenilin 1

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3329438

Endoproteolysis of presenilin 1 and accumulation of processed derivatives in vivo

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3329438

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3329438

The carboxy terminus of the beta amyloid protein is critical for the seeding of amyloid formation: implications for the pathogenesis of Alzheimer's disease

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3329438

Visualization of A beta 42(43) and A beta 40 in senile plaques with end-specific A beta monoclonals: evidence that an initially deposited species is A beta 42(43).

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3329438

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3329438

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3329438

The Swedish mutation causes early-onset Alzheimer's disease by beta-secretase cleavage within the secretory pathway

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3329438

Assembly and aggregation properties of synthetic Alzheimer's A4/beta amyloid peptide analogs

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3329438

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3329438

Transition-state analogue inhibitors of gamma-secretase bind directly to presenilin-1.

14 July 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0035133

Nonoverlapping but synergetic tau and APP pathologies in sporadic Alzheimer's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0035133

Enhancement of amyloid beta 42 secretion by 28 different presenilin 1 mutations of familial Alzheimer's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0035133

Partial Purification and Characterization of γ-Secretase from Post-mortem Human Brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0035133

gamma-Secretase activity requires the presenilin-dependent trafficking of nicastrin through the Golgi apparatus but not its complex glycosylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0035133

Presenilins mutated at Asp-257 or Asp-385 restore Pen-2 expression and Nicastrin glycosylation but remain catalytically inactive in the absence of wild type Presenilin

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0035133

Accumulation of proteolytic fragments of mutant presenilin 1 and accelerated amyloid deposition are co-regulated in transgenic mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0035133

What the halted phase III γ-secretase inhibitor trial may (or may not) be telling us.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0035133

The transmembrane aspartates in presenilin 1 and 2 are obligatory for gamma-secretase activity and amyloid beta-protein generation

21 January 2018

1 reference

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

1 reference

12 December 2020

A novel substrate for analyzing Alzheimer's disease gamma-secretase

1 reference

12 December 2020

Production and titration of lentiviral vectors

1 reference

12 December 2020

10.1371/JOURNAL.PONE.0035133

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release_xfh2zflr3jejzfxxtoiythfhne

11 August 2017

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11 August 2017

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