An Alzheimer's disease-linked PS1 variant rescues the developmental abnormalities of PS1-deficient embryos. (Q52189082)

26 April 2018

title

An Alzheimer's disease-linked PS1 variant rescues the developmental abnormalities of PS1-deficient embryos. (English)

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26 April 2018

author name string

Davis JA

1

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26 April 2018

Naruse S

2

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26 April 2018

Chen H

3

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26 April 2018

Eckman C

4

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26 April 2018

Younkin S

5

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26 April 2018

Price DL

6

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26 April 2018

Borchelt DR

7

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26 April 2018

Sisodia SS

8

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26 April 2018

Wong PC

9

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26 April 2018

language of work or name

English

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publication date

1 March 1998

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26 April 2018

published in

Neuron

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26 April 2018

volume

20

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26 April 2018

issue

3

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26 April 2018

page(s)

603-609

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26 April 2018

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

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Human presenilin-1, but not familial Alzheimer's disease (FAD) mutants, facilitate Caenorhabditis elegans Notch signalling independently of proteolytic processing

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Familial Alzheimer's disease-linked presenilin 1 variants elevate Abeta1-42/1-40 ratio in vitro and in vivo

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Accelerated amyloid deposition in the brains of transgenic mice coexpressing mutant presenilin 1 and amyloid precursor proteins

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

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Familial Alzheimer's disease associated with S182 codon 286 mutation

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

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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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The presenilin genes: a new gene family involved in Alzheimer disease pathology

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Role of Olf-1 and Pax-6 transcription factors in neurodevelopment

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

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

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Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the beta-amyloid precursor protein gene.

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Maintenance of somite borders in mice requires the Delta homologue DII1.

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Light and electron microscopic localization of presenilin-1 in primate brain.

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Hyperaccumulation of FAD-linked presenilin 1 variants in vivo

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7 January 2021

Facilitation of lin-12-mediated signalling by sel-12, a Caenorhabditis elegans S182 Alzheimer's disease gene

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Assessment of normal and mutant human presenilin function in Caenorhabditis elegans

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

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Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1

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

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Mis-sense mutation Val&rarr;Ile in exon 17 of amyloid precursor protein gene in Japanese familial Alzheimer's disease

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Mutations in the human Jagged1 gene are responsible for Alagille syndrome

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Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Skeletal and CNS defects in Presenilin-1-deficient mice

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

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Genetic evidence for a novel familial Alzheimer's disease locus on chromosome 14.

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

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Notch1 is essential for postimplantation development in mice.

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7 January 2021

Endoproteolysis of presenilin 1 and accumulation of processed derivatives in vivo

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7 January 2021

Evidence that levels of presenilins (PS1 and PS2) are coordinately regulated by competition for limiting cellular factors

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7 January 2021

Familial Alzheimer's chromosome 14 mutations

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7 January 2021

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

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7 January 2021

10.1016/S0896-6273(00)80998-8

Identifiers

DOI

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26 April 2018

1 reference

26 April 2018