Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene
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Summary
Analysis of the nucleotide sequence of the open reading frame of the E5-1 gene led to the discovery of two missense substitutions at conserved amino-acid residues in affected members of pedigrees with a form of familial AD that has a later age of onset than the AD3 subtype (5070 years versus 3060 years for AD3).
- Type
- article
- Published
- 1995-08-31
- Cited by
- 2,108
- References
- 8
- OpenAlex
- https://openalex.org/W2045153164
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:4259326
Keywords
Missense mutation, Genetics, Biology, Gene, Presenilin
References
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- Genetic linkage evidence for a familial Alzheimer's disease locus on chromosome 14.
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- Cloned glutamate receptors.
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- Phosphorylation of presenilin-2 regulates its cleavage by caspases and retards progression of apoptosis.
- New insights into genetic aspects of Alzheimer's disease
- Environmental pesticide exposure as a risk factor for Alzheimer's disease: a case-control study.
- Chronic gliosis triggers Alzheimer's disease-like processing of amyloid precursor protein.
- Notch and Presenilin: regulated intramembrane proteolysis links development and degeneration.
- Vascular endothelial growth factor gene variability is associated with increased risk for AD
- Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin–1 gene
- Enhanced brain activity may precede the diagnosis of Alzheimer's disease by 30 years.
- Assembly, Trafficking and Function of γ-Secretase
- The genetics and molecular pathology of Alzheimer's disease: roles of amyloid and the presenilins.
- Valproic acid inhibits Aβ production, neuritic plaque formation, and behavioral deficits in Alzheimer's disease mouse models
- Therapeutic and functional studies in animal models of Alzheimer's disease
- Autosomal Dominant Alzheimer's Disease with Early Frontal Lobe Involvement Associated with the Met239Ile Mutation of Presenilin 2 Gene
- Diagnose ohne Therapie
- Clinical Genetics of Alzheimer's Disease
- Genetic variants in Alzheimer disease – molecular and brain network approaches
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