Aberrant splicing in the presenilin-1 intron 4 mutation causes presenile Alzheimer's disease by increased Abeta42 secretion. (Q40942783)

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10 December 2019

title

Aberrant splicing in the presenilin-1 intron 4 mutation causes presenile Alzheimer's disease by increased Abeta42 secretion (English)

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10 December 2019

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11

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Christopher Morris

12

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Peter Henry St George-Hyslop

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15

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author name string

C De Jonghe

1

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10 December 2019

M Cruts

2

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10 December 2019

E A Rogaeva

3

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C Tysoe

4

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A Singleton

5

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10 December 2019

H Vanderstichele

6

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W Meschino

7

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10 December 2019

B Dermaut

8

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10 December 2019

I Vanderhoeven

9

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H Backhovens

10

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J Hardy

13

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D C Rubinsztein

14

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C Van Broeckhoven

16

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10 December 2019

publication date

1 August 1999

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10 December 2019

published in

Human Molecular Genetics

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10 December 2019

volume

8

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10 December 2019

issue

8

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page(s)

1529-1540

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

10 December 2019

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Analysis of the 5' sequence, genomic structure, and alternative splicing of the presenilin-1 gene (PSEN1) associated with early onset Alzheimer disease

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

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

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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

21 January 2018

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

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

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

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Deficiency of presenilin-1 inhibits the normal cleavage of amyloid precursor protein

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Skeletal and CNS defects in Presenilin-1-deficient mice

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Presenilin 1 is required for Notch1 and DII1 expression in the paraxial mesoderm

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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

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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

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A presenilin-1 truncating mutation is present in two cases with autopsy-confirmed early-onset Alzheimer disease

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21 January 2018

Identifiers

DOI

10.1093/HMG/8.8.1529

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10401002%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

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