Genetic studies in Alzheimer's disease. (Q38579624)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22033785 AND SRC:MED&resulttype=core&format=json

15 January 2020

title

Genetic studies in Alzheimer's disease (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22033785 AND SRC:MED&resulttype=core&format=json

15 January 2020

0 references

Ya-Ping Tang

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22033785 AND SRC:MED&resulttype=core&format=json

15 January 2020

Elliot S Gershon

series ordinal

2

1 reference

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15 January 2020

publication date

1 March 2003

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22033785 AND SRC:MED&resulttype=core&format=json

Dialogues in Clinical Neuroscience

15 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22033785 AND SRC:MED&resulttype=core&format=json

15 January 2020

volume

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22033785 AND SRC:MED&resulttype=core&format=json

15 January 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22033785 AND SRC:MED&resulttype=core&format=json

15 January 2020

page(s)

17-26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22033785 AND SRC:MED&resulttype=core&format=json

Association between presenilin-1 Glu318Gly mutation and familial Alzheimer's disease in the Australian population.

15 January 2020

cites work

1 reference

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Dementia: when is it not Alzheimer disease?

6 September 2017

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

6 September 2017

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Alzheimer's Disease: Genes, Pathogenesis and Risk Prediction

6 September 2017

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Modification of brain aging and neurodegenerative disorders by genes, diet, and behavior

6 September 2017

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Toxic proteins in neurodegenerative disease

6 September 2017

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Candidate gene association studies in sporadic Alzheimer's disease

6 September 2017

1 reference

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A second locus for very-late-onset Alzheimer disease: a genome scan reveals linkage to 20p and epistasis between 20p and the amyloid precursor protein region

6 September 2017

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gamma-Secretase, Notch, Abeta and Alzheimer's disease: where do the presenilins fit in?

6 September 2017

1 reference

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Alzheimer's disease and the amyloid cascade hypothesis: ten years on.

6 September 2017

1 reference

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Deficient neurogenesis in forebrain-specific presenilin-1 knockout mice is associated with reduced clearance of hippocampal memory traces

6 September 2017

1 reference

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A portrait of Alzheimer secretases--new features and familiar faces

6 September 2017

1 reference

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The amyloid precursor protein locus and very-late-onset Alzheimer disease

6 September 2017

1 reference

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The genetics of late-onset Alzheimer's disease.

6 September 2017

1 reference

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Two-octapeptide repeat deletion of prion protein associated with rapidly progressive dementia

6 September 2017

1 reference

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SNP association studies in Alzheimer's disease highlight problems for complex disease analysis.

6 September 2017

1 reference

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Alzheimer's disease: genes, proteins, and therapy

6 September 2017

1 reference

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The pathogenesis of Alzheimer's disease. Is amyloid beta-protein the beginning or the end?

6 September 2017

1 reference

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Presenilin function in APP processing

6 September 2017

1 reference

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Genetic risk of Alzheimer's disease: advising relatives.

6 September 2017

1 reference

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Piecing together Alzheimer's.

6 September 2017

1 reference

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Apolipoprotein E variation at the sequence haplotype level: implications for the origin and maintenance of a major human polymorphism

6 September 2017

1 reference

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

6 September 2017

1 reference

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Association of interleukin-1 gene polymorphisms with Alzheimer's disease

6 September 2017

1 reference

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Molecular genetics of Alzheimer's disease.

6 September 2017

1 reference

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Neuropathology of Alzheimer's disease: what is new since A. Alzheimer?

6 September 2017

1 reference

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Genetic and environmental factors in Alzheimer's disease

6 September 2017

1 reference

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Presenilin-1 mutations downregulate the signalling pathway of the unfolded-protein response

6 September 2017

1 reference

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Alzheimer's disease: perspectives for the new millennium

6 September 2017

1 reference

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Beta-secretase cleavage of Alzheimer's amyloid precursor protein by the transmembrane aspartic protease BACE

6 September 2017

1 reference

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Presenilins: molecular switches between proteolysis and signal transduction

6 September 2017

1 reference

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Immunization with amyloid-beta attenuates Alzheimer-disease-like pathology in the PDAPP mouse

6 September 2017

1 reference

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

6 September 2017

1 reference

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Presenilin 1 facilitates the constitutive turnover of beta-catenin: differential activity of Alzheimer's disease-linked PS1 mutants in the beta-catenin-signaling pathway

6 September 2017

1 reference

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Aging and the occurrence of dementia: findings from a population-based cohort with a large sample of nonagenarians

6 September 2017

1 reference

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

6 September 2017

1 reference

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

6 September 2017

1 reference

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

6 September 2017

1 reference

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Effects of age, sex, and ethnicity on the association between apolipoprotein E genotype and Alzheimer disease. A meta-analysis. APOE and Alzheimer Disease Meta Analysis Consortium

6 September 2017

1 reference

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Evidence for phosphorylation and oligomeric assembly of presenilin 1.

6 September 2017

1 reference

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Mutant presenilins of Alzheimer's disease increase production of 42-residue amyloid beta-protein in both transfected cells and transgenic mice

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

The Alzheimer's disease-associated presenilins are differentially phosphorylated proteins located predominantly within the endoplasmic reticulum

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

In situ hybridization analysis of presenilin 1 mRNA in Alzheimer disease and in lesioned rat brain

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Familial Alzheimer's disease-linked presenilin 1 variants elevate Abeta1-42/1-40 ratio in vitro and in vivo

6 September 2017

1 reference

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

6 September 2017

1 reference

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Increased amyloid-beta42(43) in brains of mice expressing mutant presenilin 1

6 September 2017

1 reference

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Epidemiology of the dementias: recent developments and new approaches

6 September 2017

1 reference

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Endoproteolysis of presenilin 1 and accumulation of processed derivatives in vivo

6 September 2017

1 reference

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Secreted amyloid beta-protein similar to that in the senile plaques of Alzheimer's disease is increased in vivo by the presenilin 1 and 2 and APP mutations linked to familial Alzheimer's disease

6 September 2017

1 reference

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Widespread neuronal expression of the presenilin-1 early-onset Alzheimer's disease gene in the murine brain

6 September 2017

1 reference

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Alzheimer-associated presenilins 1 and 2: neuronal expression in brain and localization to intracellular membranes in mammalian cells.

6 September 2017

1 reference

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Apolipoprotein E: high-avidity binding to beta-amyloid and increased frequency of type 4 allele in late-onset familial Alzheimer disease

6 September 2017

1 reference

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Increased amyloid beta-peptide deposition in cerebral cortex as a consequence of apolipoprotein E genotype in late-onset Alzheimer disease

6 September 2017

1 reference

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Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families

6 September 2017

1 reference

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Alzheimer disease and the prion disorders amyloid beta-protein and prion protein amyloidoses

6 September 2017

1 reference

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High tissue content of soluble beta 1-40 is linked to cerebral amyloid angiopathy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Beta-amyloid neurotoxicity requires fibril formation and is inhibited by congo red.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Excessive production of amyloid beta-protein by peripheral cells of symptomatic and presymptomatic patients carrying the Swedish familial Alzheimer disease mutation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Isoform-specific interactions of apolipoprotein E with microtubule-associated protein tau: implications for Alzheimer disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Polarized sorting of beta-amyloid precursor protein and its proteolytic products in MDCK cells is regulated by two independent signals

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

A yeast artificial chromosome contig from human chromosome 14q24 spanning the Alzheimer's disease locus AD3.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

ApoE3 binding to tau tandem repeat I is abolished by tau serine262 phosphorylation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Characterization and chromosomal localization of a cDNA encoding brain amyloid of Alzheimer's disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Abnormal phosphorylation of the microtubule-associated protein tau (tau) in Alzheimer cytoskeletal pathology

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Novel precursor of Alzheimer's disease amyloid protein shows protease inhibitory activity

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

The precursor of Alzheimer's disease amyloid A4 protein resembles a cell-surface receptor

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Microtubule-associated protein tau (tau) is a major antigenic component of paired helical filaments in Alzheimer disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Neurofibrillary tangles of Alzheimer disease share antigenic determinants with the axonal microtubule-associated protein tau (tau)

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Neurotrophic and neurotoxic effects of amyloid beta protein: reversal by tachykinin neuropeptides

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Linkage studies in familial Alzheimer disease: evidence for chromosome 19 linkage

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Early-onset Alzheimer's disease caused by mutations at codon 717 of the beta-amyloid precursor protein gene

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

A mutation in the amyloid precursor protein associated with hereditary Alzheimer's disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Alzheimer's disease: the amyloid cascade hypothesis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Genetic linkage evidence for a familial Alzheimer's disease locus on chromosome 14

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N-terminus of beta-amyloid

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Alpha 2-macroglobulin, a multifunctional binding protein with targeting characteristics

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Amyloid beta-protein precursor: new clues to the genesis of Alzheimer's disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

APOE is a major susceptibility gene for Alzheimer's disease

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Relationship between plaques, tangles, and dystrophic processes in Alzheimer's disease

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

The Proteolytic Fragments of the Alzheimer's Disease-associated Presenilin-1 Form Heterodimers and Occur as a 100–150-kDa Molecular Mass Complex

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Recent advances in the genetics of Alzheimer's disease and vascular dementia with an emphasis on gene-environment interactions

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Predictors of cognitive decline after cardiac operation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

The genetic defect causing Huntington's disease: repeated in other contexts?

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Exploring the etiology of Alzheimer disease using molecular genetics

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

The gene defects responsible for familial Alzheimer's disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Mutations of the presenilin I gene in families with early-onset Alzheimer's disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

The inhibitory effect of apolipoprotein E4 on neurite outgrowth is associated with microtubule depolymerization

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Allelic association between the D10S1423 marker and Alzheimer's disease in a German population.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

A role for presenilin-1 in nuclear accumulation of Ire1 fragments and induction of the mammalian unfolded protein response

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Association between Alzheimer's disease and the NOS3 gene.

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

An alpha-2-macroglobulin insertion-deletion polymorphism in Alzheimer disease.

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Risk for Alzheimer's disease correlates with transcriptional activity of the APOE gene.

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Cyclooxygenase-2 expression is increased in frontal cortex of Alzheimer's disease brain

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Projections of Alzheimer's disease in the United States and the public health impact of delaying disease onset.

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Pronounced impact of Th1/E47cs mutation compared with -491 AT mutation on neural APOE gene expression and risk of developing Alzheimer's disease

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

A genome survey for novel Alzheimer disease risk loci: results at 10-cM resolution

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Complete genomic screen in late-onset familial Alzheimer's disease.

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Mutant genes in familial Alzheimer's disease and transgenic models

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Association of transferrin C2 allele with late-onset Alzheimer's disease.

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Accelerated amyloid deposition in the brains of transgenic mice coexpressing mutant presenilin 1 and amyloid precursor proteins

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Presenilins and early-onset familial Alzheimer's disease

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Genetic association of the low-density lipoprotein receptor-related protein gene (LRP), and apolipoprotein E receptor, with late-onset Alzheimer's disease

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Hyperaccumulation of FAD-linked presenilin 1 variants in vivo

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Two novel (M233T and R278T) presenilin-1 mutations in early-onset Alzheimer's disease pedigrees and preliminary evidence for association of presenilin-1 mutations with a novel phenotype.

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Phosphorylation, subcellular localization, and membrane orientation of the Alzheimer's disease-associated presenilins.

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Alzheimer's disease associated with mutations in presenilin 2 is rare and variably penetrant.

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

A mutation in Alzheimer's disease destroying a splice acceptor site in the presenilin-1 gene.

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Genetic association between intronic polymorphism in presenilin-1 gene and late-onset Alzheimer's disease. Alzheimer's Disease Collaborative Group

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

An increased percentage of long amyloid beta protein secreted by familial amyloid beta protein precursor (beta APP717) mutants.

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Synergistic effects of traumatic head injury and apolipoprotein-epsilon 4 in patients with Alzheimer's disease.

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Epistatic effect of APP717 mutation and apolipoprotein E genotype in familial Alzheimer's disease

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Neurodegeneration in the central nervous system of apoE-deficient mice

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Alzheimer's Dementia and Down's Syndrome: Genetic Evidence Suggesting an Association

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Neuronal pathology in the nucleus basalis and associated cell groups in senile dementia of the Alzheimer's type: possible role in cell loss

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Epidemiology of clinically diagnosed Alzheimer's disease

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Acetylcholinesterase fibers and the development of senile plaques

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Conservation of brain amyloid proteins in aged mammals and humans with Alzheimer's disease.

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

The amyloid beta protein gene is not duplicated in brains from patients with Alzheimer's disease

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Prevalence of Alzheimer's disease in a community population of older persons. Higher than previously reported.

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Mutation of the Alzheimer's disease amyloid gene in hereditary cerebral hemorrhage, Dutch type

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Familial Aggregation of Alzheimer's Disease and Related Disorders: A Collaborative Re-Analysis of Case-Control Studies

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Molecular and prospective phenotypic characterization of a pedigree with familial Alzheimer's disease and a missense mutation in codon 717 of the beta-amyloid precursor protein gene

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Production of the Alzheimer amyloid beta protein by normal proteolytic processing

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Amyloid beta-peptide is produced by cultured cells during normal metabolism

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Mapping of a gene predisposing to early-onset Alzheimer's disease to chromosome 14q24.3

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Genetic evidence for a novel familial Alzheimer's disease locus on chromosome 14.

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the beta-amyloid precursor protein gene.

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Contribution of APOE promoter polymorphisms to Alzheimer's disease risk

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Expression of presenilin-1 and Notch-1 receptor in human embryonic CNS.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

High expression of apolipoprotein E mRNA in the brains with sporadic Alzheimer's disease

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Susceptibility locus for Alzheimer's disease on chromosome 10.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

FAD mutations in presenilin-1 or amyloid precursor protein decrease the efficacy of a gamma-secretase inhibitor: evidence for direct involvement of PS1 in the gamma-secretase cleavage complex.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Effect of APOE genotype and promoter polymorphism on risk of Alzheimer's disease.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Neuroscience. An accomplice for gamma-secretase brought into focus.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Alpha2-macroglobulin gene and Alzheimer's disease: confirmation of association by haplotypes analyses.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Carboxyl-terminal fragments of Alzheimer beta-amyloid precursor protein accumulate in restricted and unpredicted intracellular compartments in presenilin 1-deficient cells.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Association of early-onset Alzheimer's disease with an interleukin-1alpha gene polymorphism.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Alpha2 macroglobulin and the risk of Alzheimer's disease.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Lack of association of the alpha2-macroglobulin locus on chromosome 12 in AD.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Apolipoprotein E promoter polymorphism and sporadic Alzheimer's disease in a Japanese population.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

A full genome scan for late onset Alzheimer's disease.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Increased expression of cyclooxygenases and peroxisome proliferator-activated receptor-gamma in Alzheimer's disease brains

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

The -491 A/T polymorphism in the regulatory region of the apolipoprotein E gene and early-onset Alzheimer's disease.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Effects of PS1 deficiency on membrane protein trafficking in neurons

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Alpha-2 macroglobulin is genetically associated with Alzheimer disease

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Amyotrophic lateral sclerosis and Alzheimer disease. Lessons from model systems

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Localization and possible functions of presenilins in brain

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Apo E and Apo CI loci are associated with dementia in younger but not older late-onset cases

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

An Alzheimer's disease-linked PS1 variant rescues the developmental abnormalities of PS1-deficient embryos.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

The APOE-epsilon4 allele and the risk of Alzheimer disease among African Americans, whites, and Hispanics

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Splicing mutation of presenilin-1 gene for early-onset familial Alzheimer's disease

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Cyclooxygenase 2 RNA message abundance, stability, and hypervariability in sporadic alzheimer neocortex

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Complete genomic screen in late-onset familial Alzheimer disease. Evidence for a new locus on chromosome 12.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Transcriptional Regulation of the Mouse Presenilin-1 Gene

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Allelic association but only weak evidence for linkage to the apolipoprotein E locus in late-onset Swedish Alzheimer families.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Abeta-peptide length and apolipoprotein E genotype in Alzheimer's disease

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Risk factors for late-onset Alzheimer's disease: a population-based, case-control study.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Release of excess amyloid beta protein from a mutant amyloid beta protein precursor.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Alzheimer's disease and possible gene interaction.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Mutations associated with a locus for familial Alzheimer's disease result in alternative processing of amyloid beta-protein precursor.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Apolipoprotein E and Alzheimer's disease: ethnic variation in genotypic risks.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Apolipoprotein E genotypes and Alzheimer's disease in a community study of elderly African Americans

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

ApoE genotype and familial Alzheimer's disease: a possible influence on age of onset in APP717 Val-->Ile mutated families.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Frequency and distribution of Alzheimer's disease in Europe: a collaborative study of 1980-1990 prevalence findings. The EURODEM-Prevalence Research Group.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Mis-sense mutation Val&rarr;Ile in exon 17 of amyloid precursor protein gene in Japanese familial Alzheimer's disease

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181712

Protein topology of presenilin 1

31 August 2018

1 reference

12 December 2020

The -491AA polymorphism in the APOE gene is associated with increased plasma apoE levels in Alzheimer's disease

1 reference

12 December 2020

Association between an alpha(2) macroglobulin DNA polymorphism and late-onset Alzheimer's disease

1 reference

12 December 2020

ApoE genotype and survival from intracerebral haemorrhage

1 reference

12 December 2020

Processing of beta-amyloid precursor protein in microglia and astrocytes favors an internal localization over constitutive secretion

1 reference

12 December 2020

The alpha2-macroglobulin gene in AD: a population-based study and meta-analysis

1 reference

12 December 2020

Apolipoprotein E promoter and alpha2-macroglobulin polymorphisms are not genetically associated with Chinese late onset Alzheimer's disease

1 reference

12 December 2020

Evidence for genetic linkage of Alzheimer's disease to chromosome 10q

1 reference

12 December 2020

Maturation and endosomal targeting of beta-site amyloid precursor protein-cleaving enzyme. The Alzheimer's disease beta-secretase

1 reference

12 December 2020

Apolipoprotein E in sporadic Alzheimer's disease: allelic variation and receptor interactions

1 reference

12 December 2020

Wide range in age of onset for chromosome 1--related familial Alzheimer's disease

1 reference

12 December 2020

Apolipoprotein E genotype: utility in clinical practice in Alzheimer's disease

1 reference

12 December 2020

Rapid Notch1 nuclear translocation after ligand binding depends on presenilin-associated gamma-secretase activity

1 reference

12 December 2020

Presenilins are required for gamma-secretase cleavage of beta-APP and transmembrane cleavage of Notch-1

1 reference

12 December 2020

The deletion polymorphism and Val1000Ile in alpha-2-macroglobulin and Alzheimer disease in Caribbean Hispanics

1 reference

12 December 2020

Linkage of plasma Abeta42 to a quantitative locus on chromosome 10 in late-onset Alzheimer's disease pedigrees

1 reference

12 December 2020

Education and Other Measures of Socioeconomic Status and Risk of Incident Alzheimer Disease in a Defined Population of Older Persons

1 reference

12 December 2020

Head injury, amyloid β and Alzheimer's disease

1 reference

12 December 2020

Identification of Novel Genes in Late-Onset Alzheimer's Disease

1 reference

12 December 2020

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

1 reference

12 December 2020

Apolipoprotein E4 allele in a population–based study of early–onset Alzheimer's disease

1 reference

12 December 2020

A new pathogenic mutation in the APP gene (I716V) increases the relative proportion of A beta 42(43)

1 reference

12 December 2020

1 reference

12 December 2020

Genetic association of alpha2-macroglobulin with Alzheimer's disease in a Finnish elderly population

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22033785 AND SRC:MED&resulttype=core&format=json

15 January 2020

PubMed publication ID

22033785

1 reference