(Q40942783)

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

10 December 2019

title

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

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

0 references

11

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

Christopher Morris

12

1 reference

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

Peter Henry St George-Hyslop

10 December 2019

15

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

author name string

C De Jonghe

1

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

M Cruts

2

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

E A Rogaeva

3

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

C Tysoe

4

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

A Singleton

5

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

H Vanderstichele

6

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

W Meschino

7

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

B Dermaut

8

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

I Vanderhoeven

9

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

H Backhovens

10

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

J Hardy

13

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

D C Rubinsztein

14

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

C Van Broeckhoven

16

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

publication date

1 August 1999

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

published in

Human Molecular Genetics

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

volume

8

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

page(s)

1529-1540

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

issue

8

1 reference

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

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

10 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1529

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1529

Candidate gene for the chromosome 1 familial Alzheimer's disease locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1529

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1529

Presenilin mutations in Alzheimer's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1529

The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1529

Molecular genetic analysis of familial early-onset Alzheimer's disease linked to chromosome 14q24.3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1529

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1529

Phosphorylation, subcellular localization, and membrane orientation of the Alzheimer's disease-associated presenilins.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1529

Alzheimer-associated presenilins 1 and 2: neuronal expression in brain and localization to intracellular membranes in mammalian cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1529

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1529

Alzheimer's disease. In search of gamma-secretase.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1529

Presenilin is required for activity and nuclear access of Notch in Drosophila

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1529

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1529

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1529

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1529

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1529

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1529

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1529

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1529

Skeletal and CNS defects in Presenilin-1-deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1529

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1529

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/10.1093%2FHMG%2F8.8.1529

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/10.1093%2FHMG%2F8.8.1529

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1529

A locus for familial early-onset Alzheimer's disease on the long arm of chromosome 14, proximal to the alpha 1-antichymotrypsin gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1529

Early-onset Alzheimer's disease in 2 large Belgian families

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1529

Mutations of the presenilin I gene in families with early-onset Alzheimer's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1529

A novel Polish presenilin-1 mutation (P117L) is associated with familial Alzheimer's disease and leads to death as early as the age of 28 years.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1529

A pedigree with a novel presenilin 1 mutation at a residue that is not conserved in presenilin 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1529

Suppression of ribosomal reinitiation at upstream open reading frames in amino acid-starved cells forms the basis for GCN4 translational control

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1529

An analysis of 5'-noncoding sequences from 699 vertebrate messenger RNAs

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1529

The scanning model for translation: an update

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1529

An analysis of vertebrate mRNA sequences: intimations of translational control

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1529

A 30-kDa alternative translation product of the CCAAT/enhancer binding protein alpha message: transcriptional activator lacking antimitotic activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1529

Immunoreactivity of presenilin-1 and tau in Alzheimer's disease brain.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1529

Amyloid precursor protein processing and A beta42 deposition in a transgenic mouse model of Alzheimer disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1529

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1529

A novel mutation of presenilin 1 in familial Alzheimer's disease in Israel detected by denaturing gradient gel electrophoresis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1529

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

1 reference