Familial Alzheimer disease-linked mutations specifically disrupt Ca2+ leak function of presenilin 1 (Q24302464)

GOA release 2020-03-11

Presenilin 1

1 reference

GOA release 2020-03-11

author name string

Omar Nelson

0 references

Huiping Tu

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Tianhua Lei

0 references

Mostafa Bentahir

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Bart de Strooper

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Ilya Bezprozvanny

Journal of Clinical Investigation

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language of work or name

English

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publication date

May 2007

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published in

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volume

117

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issue

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page(s)

1230-9

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cites work

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Presenilins form ER Ca2+ leak channels, a function disrupted by familial Alzheimer's disease-linked mutations

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Presenilin clinical mutations can affect gamma-secretase activity by different mechanisms

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Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene

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

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

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Evidence that Abeta42 plasma levels in presenilin-1 mutation carriers do not allow for prediction of their clinical phenotype

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27 September 2017

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Internal Ca2+ mobilization is altered in fibroblasts from patients with Alzheimer disease

27 September 2017

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27 September 2017

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Presenilin-2 mutations modulate amplitude and kinetics of inositol 1, 4,5-trisphosphate-mediated calcium signals

27 September 2017

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Presenilin 1 controls gamma-secretase processing of amyloid precursor protein in pre-golgi compartments of hippocampal neurons

30 May 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1847535

Alzheimer's presenilin-1 mutation potentiates inositol 1,4,5-trisphosphate-mediated calcium signaling in Xenopus oocytes

30 May 2018

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Altered calcium homeostasis and mitochondrial dysfunction in cortical synaptic compartments of presenilin-1 mutant mice

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1847535

Presenilins, the Endoplasmic Reticulum, and Neuronal Apoptosis in Alzheimer's Disease

30 May 2018

1 reference

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Calcium, membranes, aging, and Alzheimer's disease. Introduction and overview.

30 May 2018

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Frontotemporal dementia and parkinsonism associated with the IVS1+1G->A mutation in progranulin: a clinicopathologic study

30 May 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1847535

The Thr354Ile substitution in PSEN1:: disease-causing mutation or polymorphism?

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1847535

Presenilin mutations linked to familial Alzheimer's disease reduce endoplasmic reticulum and Golgi apparatus calcium levels.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1847535

Presenilin 1 Glu318Gly polymorphism: interpret with caution.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1847535

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

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1847535

Presenilin mutations associated with fronto-temporal dementia

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1847535

Dysregulated IP3 signaling in cortical neurons of knock-in mice expressing an Alzheimer's-linked mutation in presenilin1 results in exaggerated Ca2+ signals and altered membrane excitability.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1847535

Familial frontotemporal dementia associated with a novel presenilin-1 mutation

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1847535

A presenilin 1 mutation associated with familial frontotemporal dementia inhibits gamma-secretase cleavage of APP and notch.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1847535

Subcellular mechanisms of presenilin-mediated enhancement of calcium signaling

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1847535

Mutant presenilins disturb neuronal calcium homeostasis in the brain of transgenic mice, decreasing the threshold for excitotoxicity and facilitating long-term potentiation

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1847535

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

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1847535

The Glu318Gly substitution in presenilin 1 is not causally related to Alzheimer disease

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1847535

The Glu318Gly mutation of the presenilin-1 gene does not necessarily cause Alzheimer's disease.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1847535

Calcium responses in fibroblasts from asymptomatic members of Alzheimer's disease families

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1847535

Calcium responses in human fibroblasts: a diagnostic molecular profile for Alzheimer's disease.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1847535

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

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17431506

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Dementia with prominent frontotemporal features associated with L113P presenilin 1 mutation

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17431506

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Estimation of the Genetic Contribution of Presenilin-1 and -2 Mutations in a Population-Based Study of Presenile Alzheimer Disease

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17431506