(Q44257207)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12493737%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

title

Presenilin-1 mutation L271V results in altered exon 8 splicing and Alzheimer's disease with non-cored plaques and no neuritic dystrophy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12493737%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

0 references

1 reference

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16 December 2019

1 reference

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16 December 2019

1 reference

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16 December 2019

1 reference

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16 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12493737%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

Georgia Dolios

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12493737%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

Hanna Laudon

1 reference

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16 December 2019

Ohoshi Murayama

1 reference

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16 December 2019

Marianne Hallupp

1 reference

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16 December 2019

Renee F Badenhop

1 reference

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16 December 2019

Rong Wang

1 reference

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16 December 2019

Jan Naslund

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12493737%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

Akihiko Takashima

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12493737%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

Samuel E Gandy

1 reference

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16 December 2019

language of work or name

English

0 references

publication date

19 December 2002

1 reference

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Journal of Biological Chemistry

16 December 2019

published in

1 reference

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16 December 2019

volume

278

1 reference

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16 December 2019

issue

1 reference

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16 December 2019

page(s)

6748-6754

1 reference

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Molecular pathogenesis of sporadic and familial forms of Alzheimer's disease.

16 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211827200

The E280A presenilin 1 Alzheimer mutation produces increased A beta 42 deposition and severe cerebellar pathology

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211827200

Early-onset Alzheimer's disease caused by a novel mutation at codon 219 of the presenilin-1 gene.

21 January 2018

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211827200

Variable phenotype of Alzheimer's disease with spastic paraparesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211827200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211827200

Presenilin-1 mutation (E280G), spastic paraparesis, and cranial MRI white-matter abnormalities.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211827200

Photoactivated gamma-secretase inhibitors directed to the active site covalently label presenilin 1

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211827200

Presenilin 1 associates with glycogen synthase kinase-3beta and its substrate tau

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211827200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211827200

Carboxyl-terminal fragments of presenilin-1 are closely related to cytoskeletal abnormalities in Alzheimer's brains.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211827200

Progressive supranuclear palsy pathology caused by a novel silent mutation in exon 10 of the tau gene: expansion of the disease phenotype caused by tau gene mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211827200

The Consortium to Establish a Registry for Alzheimer's Disease (CERAD). Part II. Standardization of the neuropathologic assessment of Alzheimer's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211827200

Two novel (M233T and R278T) presenilin-1 mutations in early-onset Alzheimer's disease pedigrees and preliminary evidence for association of presenilin-1 mutations with a novel phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211827200

A genome screen of a large bipolar affective disorder pedigree supports evidence for a susceptibility locus on chromosome 13q.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211827200

The profile of soluble amyloid beta protein in cultured cell media. Detection and quantification of amyloid beta protein and variants by immunoprecipitation-mass spectrometry

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211827200

A sensitive and quantitative assay for measuring cleavage of presenilin substrates

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211827200

Expression of Alzheimer's disease-associated presenilin-1 is controlled by proteolytic degradation and complex formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211827200

Inhibiting amyloid precursor protein C-terminal cleavage promotes an interaction with presenilin 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211827200

Endoproteolysis of presenilin 1 and accumulation of processed derivatives in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211827200

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/10.1074%2FJBC.M211827200

Nonfibrillar diffuse amyloid deposition due to a gamma(42)-secretase site mutation points to an essential role for N-truncated A beta(42) in Alzheimer's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211827200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211827200

Absence of endoproteolysis but no effects on amyloid beta production by alternative splicing forms of presenilin-1, which lack exon 8 and replace D257A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211827200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211827200

Gamma-secretase: never more enigmatic

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211827200

A subset of NSAIDs lower amyloidogenic Abeta42 independently of cyclooxygenase activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211827200

Evidence for phosphorylation and oligomeric assembly of presenilin 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211827200

Homodimerization of presenilin N-terminal fragments is affected by mutations linked to Alzheimer's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211827200

Generation of C-terminally truncated amyloid-beta peptides is dependent on gamma-secretase activity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211827200

Decreased nuclear beta-catenin, tau hyperphosphorylation and neurodegeneration in GSK-3beta conditional transgenic mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211827200

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?

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211827200

Pathology of early-onset Alzheimer's disease cases bearing the Thr113-114ins presenilin-1 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211827200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211827200

The pathogenic L392V mutation of presenilin 1 decreases the affinity to glycogen synthase kinase-3 beta

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211827200

Practical measures to simplify the Braak tangle staging method for routine pathological screening

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211827200

Novel Leu723Pro amyloid precursor protein mutation increases amyloid beta42(43) peptide levels and induces apoptosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211827200

FTDP-17 mutations N279K and S305N in tau produce increased splicing of exon 10

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211827200

Determinants of 4-repeat tau expression. Coordination between enhancing and inhibitory splicing sequences for exon 10 inclusion

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211827200

PD98059 prevents neurite degeneration induced by fibrillar beta-amyloid in mature hippocampal neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211827200

21 January 2018

Identifiers

DOI

10.1074/JBC.M211827200

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12493737%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12493737%20AND%20SRC:MED&resulttype=core&format=json