(Q30493972)

15 September 2017

Alzheimer's disease phenotypes and genotypes associated with mutations in presenilin 2. (English)

1 reference

15 September 2017

1 reference

Suman Jayadev

0 references

James B Leverenz

0 references

William Klunk

0 references

Ellen Steinbart

1 reference

15 September 2017

Justin Stahl

series ordinal

1 reference

15 September 2017

Cheng-En Yu

series ordinal

1 reference

15 September 2017

Thomas D Bird

series ordinal

1 reference

15 September 2017

language of work or name

English

0 references

publication date

1 April 2010

1 reference

15 September 2017

1 reference

15 September 2017

133

1 reference

15 September 2017

Pt 4

1 reference

15 September 2017

1143-1154

1 reference

The N141I mutation in PSEN2: implications for the quintessential case of Alzheimer disease

15 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850581

Evidence for three loci modifying age-at-onset of Alzheimer's disease in early-onset PSEN2 families

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850581

Seizures in Alzheimer disease: who, when, and how common?

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850581

A Swedish family with de novo alpha-synuclein A53T mutation: evidence for early cortical dysfunction

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850581

Epilepsy and cognitive impairments in Alzheimer disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850581

Three-year follow-up of a patient with early-onset Alzheimer's disease with presenilin-2 N141I mutation - case report and review of the literature

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850581

Intramembrane proteolysis of GXGD-type aspartyl proteases is slowed by a familial Alzheimer disease-like mutation

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850581

A novel presenilin 2 mutation (V393M) in early-onset dementia with profound language impairment.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850581

Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850581

Empiric refinement of the pathologic assessment of Lewy-related pathology in the dementia patient

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850581

Defective signal transduction in B lymphocytes lacking presenilin proteins

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850581

Clinicopathological concordance and discordance in three monozygotic twin pairs with familial Alzheimer's disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850581

Amyloid deposition begins in the striatum of presenilin-1 mutation carriers from two unrelated pedigrees

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850581

TDP-43 immunoreactivity in hippocampal sclerosis and Alzheimer's disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850581

Loss-of-function presenilin mutations in Alzheimer disease. Talking Point on the role of presenilin mutations in Alzheimer disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850581

Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850581

Lewy body pathology in familial Alzheimer disease: evidence for disease- and mutation-specific pathologic phenotype

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850581

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850581

Presenilins mediate phosphatidylinositol 3-kinase/AKT and ERK activation via select signaling receptors. Selectivity of PS2 in platelet-derived growth factor signaling.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850581

Presenilin 2 familial Alzheimer's disease mutations result in partial loss of function and dramatic changes in Abeta 42/40 ratios.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850581

APOE and other loci affect age-at-onset in Alzheimer's disease families with PS2 mutation

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850581

Nonsense-mediated decay approaches the clinic

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850581

Presenilin-1 and intracellular calcium stores regulate neuronal glutamate uptake

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850581

Imaging brain amyloid in Alzheimer's disease with Pittsburgh Compound-B

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850581

Atypical dementia associated with a novel presenilin-2 mutation

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850581

A novel presenilin 2 gene mutation (D439A) in a patient with early-onset Alzheimer's disease.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850581

Impact of DNA testing for early-onset familial Alzheimer disease and frontotemporal dementia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850581

Presenilin 2 deficiency causes a mild pulmonary phenotype and no changes in amyloid precursor protein processing but enhances the embryonic lethal phenotype of presenilin 1 deficiency

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850581

Presenilin mutations in Alzheimer's disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850581

A presenilin-1 truncating mutation is present in two cases with autopsy-confirmed early-onset Alzheimer disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850581

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850581

Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850581

Candidate gene for the chromosome 1 familial Alzheimer's disease locus

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850581

Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850581

Familial Alzheimer's disease in American descendants of the Volga Germans: probable genetic founder effect.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850581

The Consortium to Establish a Registry for Alzheimer's Disease (CERAD). Part II. Standardization of the neuropathologic assessment of Alzheimer's disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850581

Neuropathological stageing of Alzheimer-related changes

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850581

Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850581

Late onset familial Alzheimer's disease: novel presenilin 2 mutation and PS1 E318G polymorphism.

20 June 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ033

Presenilin 1 deficiency alters the activity of voltage-gated Ca2+ channels in cultured cortical neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ033

A novel mutation in the PSEN2 gene (T430M) associated with variable expression in a family with early-onset Alzheimer disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ033

Novel mutations and repeated findings of mutations in familial Alzheimer disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ033

A novel mutation in the predicted TM2 domain of the presenilin 2 gene in a Spanish patient with late-onset Alzheimer's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ033

Uncommon polymorphism in the presenilin genes in human familial Alzheimer's disease: not to be mistaken with a pathogenic mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ033

Frequency of mutations in the presenilin and amyloid precursor protein genes in early-onset Alzheimer disease in Spain.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ033

Amyloid (Abeta) deposition in chromosome 1-linked Alzheimer's disease: the Volga German families.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ033

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ033

Neuropathological and clinical phenotype of an Italian Alzheimer family with M239V mutation of presenilin 2 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ033

Amyloid angiopathy in a Volga German family with Alzheimer's disease and a presenilin-2 mutation (N141I).

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ033

Apolipoprotein Eepsilon4 modifies Alzheimer's disease onset in an E280A PS1 kindred.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ033

A novel PSEN2 mutation associated with a peculiar phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ033

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ033

Alterations in excitotoxicity and prostaglandin metabolism in a transgenic mouse model of Alzheimer's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ033

Prevalence of pathogenic mutations in an Italian clinical series of patients with familial dementia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ033

Identification of new presenilin gene mutations in early-onset familial Alzheimer disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ033

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ033

A novel mutation in the predicted TMIII domain of the PSEN2 gene in an Italian pedigree with atypical Alzheimer's disease

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850581

Gene symbol: PSEN2. Disease: Alzheimer disease.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850581

Lewy body pathology in late-onset familial Alzheimer's disease: a clinicopathological case series.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850581

Simplified quantification of Pittsburgh Compound B amyloid imaging PET studies: a comparative analysis

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850581

Myoclonus, seizures, and paratonia in Alzheimer disease

26 November 2018

1 reference

12 December 2020

Mutations in presenilin 1, presenilin 2 and amyloid precursor protein genes in patients with early-onset Alzheimer's disease in Poland

1 reference

12 December 2020

Presenilin 2 Ser130Leu mutation in a case of late-onset "sporadic" Alzheimer's disease

1 reference

12 December 2020

Variable expression of familial Alzheimer disease associated with presenilin 2 mutation M239I

1 reference

12 December 2020

Identifiers

DOI

10.1093/BRAIN/AWQ033

1 reference

15 September 2017

1 reference

15 September 2017

PubMed publication ID

20375137

1 reference