Genetics. Gamma-secretase and human disease (Q42068976)

16 October 2017

Genetics. Gamma-secretase and human disease (English)

1 reference

16 October 2017

Jie Shen

2

1 reference

16 October 2017

Raymond J. Kelleher

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:21097925

1 September 2024

language of work or name

English

0 references

publication date

1 November 2010

1 reference

16 October 2017

19 November 2010

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=21097925

full work available at URL

1 September 2024

https://europepmc.org/articles/pmc4556372?pdf=render

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:21097925

http://www.sciencemag.org/cgi/content/abstract/330/6007/1055

1 September 2024

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:21097925

https://europepmc.org/articles/PMC4556372

1 September 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:21097925

https://europepmc.org/articles/PMC4556372?pdf=render

1 September 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:21097925

https://doi.org/10.1126/science.1198668

1 September 2024

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:21097925

1 September 2024

1 reference

16 October 2017

330

1 reference

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

Aβ 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

γ-Secretase Gene Mutations in Familial Acne Inversa

17 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1126/SCIENCE.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