Alleles at the Nicastrin locus modify presenilin 1- deficiency phenotype (Q34394352)

1 August 2017

Alleles at the Nicastrin locus modify presenilin 1- deficiency phenotype (English)

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1 August 2017

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14

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Peter Henry St George-Hyslop

1 August 2017

object named as

Peter St George-Hyslop

18

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author name string

Richard Rozmahel

1

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1 August 2017

Howard T J Mount

2

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1 August 2017

Fusheng Chen

3

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1 August 2017

Van Nguyen

4

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1 August 2017

Jean Huang

5

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1 August 2017

Serap Erdebil

6

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1 August 2017

Jennifer Liauw

7

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1 August 2017

Gang Yu

8

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1 August 2017

Hiroshe Hasegawa

9

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1 August 2017

YongJun Gu

10

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1 August 2017

You-Qiang Song

11

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1 August 2017

Stephen D Schmidt

12

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1 August 2017

Ralph A Nixon

13

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1 August 2017

Catherine Bergeron

15

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1 August 2017

Paul Fraser

16

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1 August 2017

David Westaway

17

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1 August 2017

language of work or name

English

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publication date

18 October 2002

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

1 August 2017

6

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based on heuristic

inferred from page(s)

published in

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1 August 2017

99

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22

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1 August 2017

14452-14457

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Mature glycosylation and trafficking of nicastrin modulate its binding to presenilins

1 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137904

Cell-free generation of the notch1 intracellular domain (NICD) and APP-CTfgamma: evidence for distinct intramembranous "gamma-secretase" activities

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137904

The gene encoding nicastrin, a major gamma-secretase component, modifies risk for familial early-onset Alzheimer disease in a Dutch population-based sample

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137904

gamma-Secretase, Notch, Abeta and Alzheimer's disease: where do the presenilins fit in?

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137904

Presenilin 1 is required for maturation and cell surface accumulation of nicastrin

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137904

Activity-dependent isolation of the presenilin- gamma -secretase complex reveals nicastrin and a gamma substrate

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137904

Aph-2/Nicastrin: an essential component of gamma-secretase and regulator of Notch signaling and Presenilin localization

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137904

Gamma-secretase-like cleavages of Notch and beta APP are mutually exclusive in human cells

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137904

APH-1 is a multipass membrane protein essential for the Notch signaling pathway in Caenorhabditis elegans embryos

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137904

Characterization of a presenilin-mediated amyloid precursor protein carboxyl-terminal fragment gamma. Evidence for distinct mechanisms involved in gamma -secretase processing of the APP and Notch1 transmembrane domains

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137904

Nicastrin binds to membrane-tethered Notch

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137904

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137904

Separation of presenilin function in amyloid beta-peptide generation and endoproteolysis of Notch

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137904

C terminus of presenilin is required for overproduction of amyloidogenic Abeta42 through stabilization and endoproteolysis of presenilin

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137904

Cell surface presenilin-1 participates in the gamma-secretase-like proteolysis of Notch

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137904

Mice lacking both presenilin genes exhibit early embryonic patterning defects

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137904

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137904

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137904

Overview of QTL mapping software and introduction to map manager QT.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137904

Physical delineation of a 700-kb region overlapping the Looptail mutation on mouse chromosome 1.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137904

The mouse pudgy mutation disrupts Delta homologue Dll3 and initiation of early somite boundaries

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137904

Notch-1 signalling requires ligand-induced proteolytic release of intracellular domain

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137904

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137904

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137904

Skeletal and CNS defects in Presenilin-1-deficient mice

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137904

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137904

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137904

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137904

Assessment of normal and mutant human presenilin function in Caenorhabditis elegans

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137904

Requirement of the paraxis gene for somite formation and musculoskeletal patterning

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137904

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137904

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137904

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137904

Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137904

Notch1 is essential for postimplantation development in mice.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137904

Notch1 is required for the coordinate segmentation of somites

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137904

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137904

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137904

Normal brain development in PS1 hypomorphic mice with markedly reduced gamma-secretase cleavage of betaAPP.

6 July 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.222413999

Embryonic lethality in mice homozygous for a processing-deficient allele of Notch1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.222413999

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.222413999

Total inactivation of gamma-secretase activity in presenilin-deficient embryonic stem cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.222413999

Nicastrin is required for Presenilin-mediated transmembrane cleavage in Drosophila

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.222413999

Nicastrin is required for gamma-secretase cleavage of the Drosophila Notch receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.222413999

APH-2/nicastrin functions in LIN-12/Notch signaling in the Caenorhabditis elegans somatic gonad.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.222413999

Drosophila nicastrin is essential for the intramembranous cleavage of notch

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.222413999

A mutation in the Ter gene causing increased susceptibility to testicular teratomas maps to mouse chromosome 18

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.222413999

21 January 2018

Identifiers

DOI

10.1073/PNAS.222413999

1 reference

1 August 2017

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1 reference

1 August 2017

1 reference