(Q35924427)

English

Familial frontotemporal dementia-associated presenilin-1 c.548G>T mutation causes decreased mRNA expression and reduced presenilin function in knock-in mice

scientific article published in April 2012

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

Familial frontotemporal dementia-associated presenilin-1 c.548G>T mutation causes decreased mRNA expression and reduced presenilin function in knock-in mice (English)

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

frontotemporal dementia

1 reference

based on heuristic

inferred from title

author name string

Hirotaka Watanabe

1

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

Dan Xia

2

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

Takahisa Kanekiyo

3

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

Raymond J Kelleher

4

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

Jie Shen

5

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

language of work or name

0 references

publication date

1 April 2012

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

Journal of Neuroscience

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

32

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

15

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

5085-5096

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

Genetics and biology of Alzheimer's disease and frontotemporal lobar degeneration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340902

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340902

2 October 2017

Characterization of age-dependent and progressive cortical neuronal degeneration in presenilin conditional mutant mice.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340902

2 October 2017

Presenilins are essential for regulating neurotransmitter release

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340902

2 October 2017

Presenilins are required for maintenance of neural stem cells in the developing brain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340902

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340902

2 October 2017

Frontotemporal dementia-like phenotypes associated with presenilin-1 mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340902

2 October 2017

Frontotemporal dementia--a brief review.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340902

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340902

2 October 2017

Atypical dementia associated with a novel presenilin-2 mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340902

2 October 2017

aph-1 and pen-2 are required for Notch pathway signaling, gamma-secretase cleavage of betaAPP, and presenilin protein accumulation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340902

2 October 2017

Listening to silence and understanding nonsense: exonic mutations that affect splicing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340902

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340902

2 October 2017

APP processing and synaptic plasticity in presenilin-1 conditional knockout mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340902

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340902

2 October 2017

The splice of life: alternative splicing and neurological disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340902

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340902

2 October 2017

Photoactivated gamma-secretase inhibitors directed to the active site covalently label presenilin 1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340902

2 October 2017

Presenilin-1 regulates neuronal differentiation during neurogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340902

2 October 2017

Mice lacking both presenilin genes exhibit early embryonic patterning defects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340902

2 October 2017

A loss of function mutation of presenilin-2 interferes with amyloid beta-peptide production and notch signaling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340902

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340902

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340902

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340902

2 October 2017

Skeletal and CNS defects in Presenilin-1-deficient mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340902

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340902

2 October 2017

Assessment of normal and mutant human presenilin function in Caenorhabditis elegans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340902

2 October 2017

Expression of presenilin 1 and 2 (PS1 and PS2) in human and murine tissues

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340902

2 October 2017

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340902

2 October 2017

Genetics. Gamma-secretase and human disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340902

11 July 2018

A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340902

11 July 2018

Hyperaccumulation of FAD-linked presenilin 1 variants in vivo.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340902

11 July 2018

Atypical presentation of a novel Presenilin 1 R377W mutation: sporadic, late-onset Alzheimer disease with epilepsy and frontotemporal atrophy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340902

24 September 2018

PSENEN and NCSTN mutations in familial hidradenitis suppurativa (Acne Inversa).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340902

24 September 2018

Gamma-secretase gene mutations in familial acne inversa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340902

24 September 2018

CSF studies facilitate DNA diagnosis in familial Alzheimer's disease due to a presenilin-1 mutation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340902

24 September 2018

A novel Italian presenilin 2 gene mutation with prevalent behavioral phenotype.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340902

24 September 2018

Novel PSEN1 and PGRN mutations in early-onset familial frontotemporal dementia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340902

24 September 2018

Knock-in mice reveal nonsense-mediated mRNA decay in the brain.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340902

24 September 2018

Modeling clinically heterogeneous presenilin mutations with transgenic Drosophila

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340902

24 September 2018

Wild-type presenilin 1 protects against Alzheimer disease mutation-induced amyloid pathology.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340902

24 September 2018

Pick bodies in a family with presenilin-1 Alzheimer's disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340902

24 September 2018

Role of presenilin-1 in cortical lamination and survival of Cajal-Retzius neurons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340902

24 September 2018

Reduced beta-amyloid production and increased inflammatory responses in presenilin conditional knock-out mice.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340902

24 September 2018

Partial loss of presenilins causes seborrheic keratosis and autoimmune disease in mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340902

24 September 2018

A novel presenilin 1 mutation associated with Pick's disease but not beta-amyloid plaques

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340902

24 September 2018

Very early onset AD with a de novo mutation in the presenilin 1 gene (Met 233 Leu)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340902

24 September 2018

Presenilin 1 mutation in an african american family presenting with atypical Alzheimer dementia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340902

24 September 2018

Sulindac sulfide is a noncompetitive gamma-secretase inhibitor that preferentially reduces Abeta 42 generation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340902

24 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340902

24 September 2018

Notch1 expression in early lymphopoiesis influences B versus T lineage determination.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340902

24 September 2018

Deficient T cell fate specification in mice with an induced inactivation of Notch1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340902

24 September 2018

The clinical phenotype of two missense mutations in the presenilin I gene in Japanese patients.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340902

24 September 2018

Alternative transcripts of presenilin-1 associated with frontotemporal dementia

1 reference

https://pubmed.ncbi.nlm.nih.gov/22496554

12 December 2020

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Two novel mutations of the nicastrin gene in Chinese patients with acne inversa

1 reference

https://pubmed.ncbi.nlm.nih.gov/22496554

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Frontotemporal dementia

1 reference

https://pubmed.ncbi.nlm.nih.gov/22496554

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two novel presenilin 1 gene mutations connected with frontotemporal dementia-like clinical phenotype: Genetic and bioinformatic assessment

1 reference

https://pubmed.ncbi.nlm.nih.gov/22496554

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Calcium/calmodulin and calmodulin kinase II stimulate hyperactivation in demembranated bovine sperm

1 reference

https://pubmed.ncbi.nlm.nih.gov/22496554

12 December 2020

based on heuristic

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Novel MAPT Val75Ala mutation and PSEN2 Arg62Hys in two siblings with frontotemporal dementia

1 reference

https://pubmed.ncbi.nlm.nih.gov/22496554

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dementia with prominent frontotemporal features associated with L113P presenilin 1 mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/22496554

12 December 2020

based on heuristic

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Identifiers

10.1523/JNEUROSCI.0317-12.2012

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

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