Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease
Explore this paper's citation graph
Summary
A minimal cosegregating region containing the AD3 gene is defined, and at least 19 different transcripts encoded within this region corresponds to a novel gene whose product is predicted to contain multiple transmembrane domains and resembles an integral membrane protein.
- Type
- article
- Published
- 1995-06-29
- Cited by
- 4,256
- References
- 45
- OpenAlex
- https://openalex.org/W2046209489
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:4308372
Keywords
Missense mutation, Genetics, Biology, Gene, Locus (genetics)
References
- The 1993–94 Généthon human genetic linkage map
- Genetic linkage studies suggest that Alzheimer's disease is not a single homogeneous disorder
- Chromosome 14 and late-onset familial Alzheimer disease (FAD).
- Restriction endonuclease fingerprinting (REF): a sensitive method for screening mutations in long, contiguous segments of DNA.
- Structural features in eukaryotic mRNAs that modulate the initiation of translation.
- Familial Alzheimer's disease in two kindreds of the same geographic and ethnic origin. A clinical and genetic study.
- Hannah's Heirs: The Quest for the Genetic Origins of Alzheimer's Disease
- A simple method for displaying the hydropathic character of a protein.
- The identification and suppression of inherited neurodegeneration in Caenorhabditis elegans
- Molecular and prospective phenotypic characterization of a pedigree with familial Alzheimer's disease and a missense mutation in codon 717 of the β‐amyloid precursor protein gene
- Mutation of a putative sperm membrane protein in Caenorhabditis elegans prevents sperm differentiation but not its associated meiotic divisions
- Genetic linkage studies in Alzheimer's disease families.
- Isolation of chromosome 21–specific yeast artificial chromosomes from a total human genome library
- Association of apolipoprotein E allele epsilon 4 with late-onset familial and sporadic Alzheimer's disease.
- Combining evolutionary information and neural networks to predict protein secondary structure
- Calcium ionophore increases amyloid beta peptide production by cultured cells.
- Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia
- Mapping of a gene predisposing to early–onset Alzheimer's disease to chromosome 14q24.3
- Apolipoprotein E: high-avidity binding to beta-amyloid and increased frequency of type 4 allele in late-onset familial Alzheimer disease.
- A mutation in the amyloid precursor protein associated with hereditary Alzheimer's disease.
Cited by
- Inhibitors of the Maillard Reaction
- Mitochondrial dysfunction and oxidative stress in aging and neurodegenerative disease.
- Identification of Functional Variants in Alzheimer's Disease-Associated Genes
- Murine models of brain aging and age-related neurodegenerative diseases.
- A vector for expressing foreign genes in the brains and hearts of transgenic mice.
- Functional Characterization of the Presenilin Homologue SPE-4
- ApoE genotype is a risk factor in nonpresenilin early-onset Alzheimer's disease families.
- Cellular and molecular basis of beta-amyloid precursor protein metabolism.
- Presenilin 1 intronic polymorphism is not associated with Alzheimer type neuropathological changes or sporadic Alzheimer’s disease
- A new approach to the genetic analysis of nervous system diseases: retrospective genotyping of archival brains.
- Phosphorylation of presenilin-2 regulates its cleavage by caspases and retards progression of apoptosis.
- Expression of nicotinic acetylcholine receptor subunits in the cerebral cortex in Alzheimer’s disease: histotopographical correlation with amyloid plaques and hyperphosphorylated‐tau protein
- Intramembrane proteolysis by the aspartic protease SPP
- New insights into genetic aspects of Alzheimer's disease
- Environmental pesticide exposure as a risk factor for Alzheimer's disease: a case-control study.
- The genetics of late-onset Alzheimer's disease
- How do neurons die in neurodegenerative diseases?
- Longitudinal analysis of the effect of apolipoprotein E ε4 and education on cognitive performance in elderly subjects: the PAQUID study
- Preliminary demonstration of an allelic association of the IREB2 gene with Alzheimer's disease
- Chronic gliosis triggers Alzheimer's disease-like processing of amyloid precursor protein.
Related papers
- Mapping of the gene for X-linked amelogenesis imperfecta by linkage analysis.
- Linkage studies in a new X-linked myopathy, suggesting exclusion of DMD locus and tentative assignment to distal Xq.
- Confirmation of a third locus, at 2p, for autosomal recessive limb-girdle muscular dystrophy indicates that at least 4 genes are responsible for this condition
- Confirmation of linkage and refinement of the RP28 locus for autosomal recessive retinitis pigmentosa on chromosome 2p14-p15 in an Indian family.
- No evidence of linkage between the locus for autosomal dominant retinitis pigmentosa and D3S47 (C17) in three Australian families
- An integrated deletion and physical map encompassing l71Rl, a chromosome 7 locus required for peri-implantation survival in the mouse.