(Q36459592)

English

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

scientific article

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scholarly article

1 reference

Europe PubMed Central

14 August 2017

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 (English)

1 reference

Europe PubMed Central

14 August 2017

Alzheimer's disease

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5

object named as

A Brice

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3

object named as

H Barelli

1 reference

Europe PubMed Central

14 August 2017

Frédéric Checler

object named as

F Checler

8

0 references

author name string

K Ancolio

1

1 reference

Europe PubMed Central

14 August 2017

C Dumanchin

2

1 reference

Europe PubMed Central

14 August 2017

J M Warter

4

1 reference

Europe PubMed Central

14 August 2017

D Campion

6

1 reference

Europe PubMed Central

14 August 2017

T Frébourg

7

1 reference

Europe PubMed Central

14 August 2017

language of work or name

0 references

publication date

1 March 1999

1 reference

Europe PubMed Central

14 August 2017

Proceedings of the National Academy of Sciences of the United States of America

1 reference

Europe PubMed Central

14 August 2017

96

1 reference

Europe PubMed Central

14 August 2017

7

1 reference

Europe PubMed Central

14 August 2017

4119-4124

1 reference

Europe PubMed Central

14 August 2017

Post-transcriptional contribution of a cAMP-dependent pathway to the formation of alpha- and beta/gamma-secretases-derived products of beta APP maturation in human cells expressing wild-type and Swedish mutated beta APP.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22430

30 September 2017

Characterization of new polyclonal antibodies specific for 40 and 42 amino acid-long amyloid beta peptides: their use to examine the cell biology of presenilins and the immunohistochemistry of sporadic Alzheimer's disease and cerebral amyloid angiop

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22430

30 September 2017

Constitutive and protein kinase C-regulated secretory cleavage of Alzheimer's beta-amyloid precursor protein: different control of early and late events by the proteasome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22430

30 September 2017

Alpha-secretase-derived product of beta-amyloid precursor protein is decreased by presenilin 1 mutations linked to familial Alzheimer's disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22430

30 September 2017

Distinct sites of intracellular production for Alzheimer's disease A beta40/42 amyloid peptides.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22430

30 September 2017

Protein kinase A phosphorylation of the proteasome: a contribution to the alpha-secretase pathway in human cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22430

30 September 2017

Evidence that the 42- and 40-amino acid forms of amyloid beta protein are generated from the beta-amyloid precursor protein by different protease activities

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22430

30 September 2017

No founder effect in three novel Alzheimer's disease families with APP 717 Val-->Ile mutation. Clerget-darpoux. French Alzheimer's Disease Study Group.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22430

30 September 2017

Amyloid beta-protein and the genetics of Alzheimer's disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22430

30 September 2017

Metabolism of the "Swedish" amyloid precursor protein variant in neuro2a (N2a) cells. Evidence that cleavage at the "beta-secretase" site occurs in the golgi apparatus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22430

30 September 2017

Processing of the beta-amyloid precursor protein and its regulation in Alzheimer's disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22430

30 September 2017

Clinical diagnosis of Alzheimer's disease: report of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer's Disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22430

30 September 2017

Early-onset Alzheimer's disease caused by mutations at codon 717 of the beta-amyloid precursor protein gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22430

30 September 2017

A mutation in the amyloid precursor protein associated with hereditary Alzheimer's disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22430

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22430

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22430

30 September 2017

Screening for mutations in the open reading frame and promoter of the beta-amyloid precursor protein gene in familial Alzheimer's disease: identification of a further family with APP717 Val-->Ile

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22430

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22430

30 September 2017

Increased beta-amyloid release and levels of amyloid precursor protein (APP) in fibroblast cell lines from family members with the Swedish Alzheimer's disease APP670/671 mutation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22430

30 September 2017

Intracellular accumulation of beta-amyloid in cells expressing the Swedish mutant amyloid precursor protein.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22430

30 September 2017

The presenilins and Alzheimer's disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22430

28 June 2018

Alzheimer's A beta(1-42) is generated in the endoplasmic reticulum/intermediate compartment of NT2N cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22430

28 June 2018

Presenilins: genes for life and death

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22430

28 June 2018

Familial Alzheimer's disease-linked mutations at Val717 of amyloid precursor protein are specific for the increased secretion of A beta 42(43).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22430

28 June 2018

Enhanced amyloidogenic processing of the beta-amyloid precursor protein in gene-targeted mice bearing the Swedish familial Alzheimer's disease mutations and a "humanized" Abeta sequence.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22430

28 June 2018

Clonal cell lines produced by infection of neocortical neuroblasts using multiple oncogenes transduced by retroviruses

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22430

28 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22430

28 June 2018

Release of excess amyloid beta protein from a mutant amyloid beta protein precursor.

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.96.7.4119

21 January 2018

Enhanced release of amyloid beta-protein from codon 670/671 "Swedish" mutant beta-amyloid precursor protein occurs in both secretory and endocytic pathways

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.96.7.4119

21 January 2018

Differential effects of the swedish mutant amyloid precursor protein on beta-amyloid accumulation and secretion in neurons and nonneuronal cells

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.96.7.4119

21 January 2018

Mutations in the transmembrane domain of APP altering gamma-secretase specificity

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.96.7.4119

21 January 2018

The carboxyl termini of beta-amyloid peptides 1-40 and 1-42 are generated by distinct gamma-secretase activities

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.96.7.4119

21 January 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/10097173

12 December 2020

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Identifiers

10.1073/PNAS.96.7.4119

1 reference

Europe PubMed Central

14 August 2017

1999PNAS...96.4119A

0 references

1 reference

Europe PubMed Central

14 August 2017

1 reference

Europe PubMed Central

14 August 2017

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