Genetics. Gamma-secretase and human disease (Q42068976)

16 October 2017

Genetics. Gamma-secretase and human disease (English)

1 reference

16 October 2017

Raymond J Kelleher

1

1 reference

PMCID

4556372

16 October 2017

Jie Shen

series ordinal

2

1 reference

PMCID

4556372

16 October 2017

language of work or name

English

0 references

publication date

1 November 2010

1 reference

16 October 2017

1 reference

16 October 2017

330

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16 October 2017

6007

1 reference

16 October 2017

1055-1056

1 reference

A presenilin-1 mutation identified in familial Alzheimer disease with cotton wool plaques causes a nearly complete loss of gamma-secretase activity

16 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4556372

Presenilins are essential for regulating neurotransmitter release

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4556372

Epidermal growth factor receptor and notch pathways participate in the tumor suppressor function of gamma-secretase

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4556372

When loss is gain: reduced presenilin proteolytic function leads to increased Abeta42/Abeta40. Talking Point on the role of presenilin mutations in Alzheimer disease

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4556372

The presenilin hypothesis of Alzheimer's disease: evidence for a loss-of-function pathogenic mechanism

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4556372

Loss of presenilin function causes impairments of memory and synaptic plasticity followed by age-dependent neurodegeneration

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4556372

Notch1 functions as a tumor suppressor in mouse skin

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4556372

The amyloid hypothesis of Alzheimer's disease: progress and problems on the road to therapeutics

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4556372

Loss of presenilin 1 is associated with enhanced beta-catenin signaling and skin tumorigenesis

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4556372

Proteolytic release and nuclear translocation of Notch-1 are induced by presenilin-1 and impaired by pathogenic presenilin-1 mutations

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4556372

Abeta deposition is associated with neuropil changes, but not with overt neuronal loss in the human amyloid precursor protein V717F (PDAPP) transgenic mouse.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4556372

Gamma-secretase gene mutations in familial acne inversa

17 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1126%2FSCIENCE.1198668

21 January 2018

Hidradenitis suppurativa

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21097925

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1126/SCIENCE.1198668

1 reference

16 October 2017

1 reference

16 October 2017

1 reference

PMCID

4556372