(Q37201294)

English

Familial Alzheimer's disease mutations in presenilins: effects on endoplasmic reticulum calcium homeostasis and correlation with clinical phenotypes

scientific article published on January 2010

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scholarly article

1 reference

Europe PubMed Central

18 August 2017

Familial Alzheimer's disease mutations in presenilins: effects on endoplasmic reticulum calcium homeostasis and correlation with clinical phenotypes (English)

1 reference

Europe PubMed Central

18 August 2017

Alzheimer's disease

0 references

endoplasmic reticulum

0 references

author name string

Omar Nelson

1

1 reference

Europe PubMed Central

18 August 2017

Charlene Supnet

2

1 reference

Europe PubMed Central

18 August 2017

Huarui Liu

3

1 reference

Europe PubMed Central

18 August 2017

Ilya Bezprozvanny

4

1 reference

Europe PubMed Central

18 August 2017

language of work or name

1 reference

based on heuristic

inferred from title

publication date

1 January 2010

1 reference

Europe PubMed Central

18 August 2017

Journal of Alzheimer's Disease

1 reference

Europe PubMed Central

18 August 2017

21

1 reference

Europe PubMed Central

18 August 2017

3

1 reference

Europe PubMed Central

18 August 2017

781-793

1 reference

Europe PubMed Central

18 August 2017

gamma-secretases: from cell biology to therapeutic strategies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996666

6 September 2017

The amyloid hypothesis for Alzheimer's disease: a critical reappraisal

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996666

6 September 2017

Linking Abeta and tau in late-onset Alzheimer's disease: a dual pathway hypothesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996666

6 September 2017

Thirty years of Alzheimer's disease genetics: the implications of systematic meta-analyses

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996666

6 September 2017

Neuronal calcium mishandling and the pathogenesis of Alzheimer's disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996666

6 September 2017

Loss of progranulin function in frontotemporal lobar degeneration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996666

6 September 2017

Defective signal transduction in B lymphocytes lacking presenilin proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996666

6 September 2017

Variable phenotype of Alzheimer's disease with spastic paraparesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996666

6 September 2017

Presenilin-1 C410Y Alzheimer disease plaques contain synaptic proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996666

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996666

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996666

6 September 2017

Presenilin-1 maintains a nine-transmembrane topology throughout the secretory pathway

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996666

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996666

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996666

6 September 2017

Calcium dysregulation in Alzheimer's disease: recent advances gained from genetically modified animals

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996666

6 September 2017

A nine-transmembrane domain topology for presenilin 1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996666

6 September 2017

Alzheimer's disease with spastic paresis and cotton wool type plaques

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996666

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996666

6 September 2017

Novel presenilin-1 mutation with widespread cortical amyloid deposition but limited cerebral amyloid angiopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996666

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996666

6 September 2017

Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996666

6 September 2017

Presenilin mutations in Alzheimer's disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996666

6 September 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=4996666

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996666

6 September 2017

A new generation of Ca2+ indicators with greatly improved fluorescence properties

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996666

6 September 2017

Biological effects of four PSEN1 gene mutations causing Alzheimer disease with spastic paraparesis and cotton wool plaques

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996666

14 September 2017

A pathogenic presenilin-1 deletion causes abberrant Abeta 42 production in the absence of congophilic amyloid plaques

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996666

28 September 2017

Spastic paraparesis and atypical dementia caused by PSEN1 mutation (P264L), responsible for Alzheimer's disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996666

26 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996666

26 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996666

26 June 2018

Resting [Ca2+]i and [Ca2+]i transients are similar in fibroblasts from normal and Alzheimer's donors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996666

26 June 2018

A presenilin 1 mutation (L420R) in a family with early onset Alzheimer disease, seizures and cotton wool plaques, but not spastic paraparesis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996666

3 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996666

3 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=4996666

3 September 2018

A novel presenilin-1 mutation (Leu85Pro) in early-onset Alzheimer disease with spastic paraparesis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996666

3 September 2018

PS1 Alzheimer's disease family with spastic paraplegia: the search for a gene modifier.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996666

3 September 2018

Early‐onset Alzheimer's disease with presenilin‐1 M139V mutation: clinical, neuropsychological and neuropathological study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996666

3 September 2018

Alzheimer's disease with spastic paraparesis and 'cotton wool' plaques: two pedigrees with PS-1 exon 9 deletions.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996666

3 September 2018

Presenilin-1 mutation L271V results in altered exon 8 splicing and Alzheimer's disease with non-cored plaques and no neuritic dystrophy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996666

3 September 2018

Presenilin-1 mutation (E280G), spastic paraparesis, and cranial MRI white-matter abnormalities.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996666

3 September 2018

A novel mutation (G217D) in the Presenilin 1 gene ( PSEN1) in a Japanese family: presenile dementia and parkinsonism are associated with cotton wool plaques in the cortex and striatum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996666

3 September 2018

Cotton wool plaques in non-familial late-onset Alzheimer disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996666

3 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=4996666

3 September 2018

A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996666

3 September 2018

Variant Alzheimer's disease with spastic paraparesis and cotton wool plaques is caused by PS-1 mutations that lead to exceptionally high amyloid-beta concentrations

1 reference

https://pubmed.ncbi.nlm.nih.gov/20634584

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20634584

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.3233/JAD-2010-100159

1 reference

Europe PubMed Central

18 August 2017

1 reference

Europe PubMed Central

18 August 2017

1 reference

Europe PubMed Central

18 August 2017

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