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Article
Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease
Some cases of Alzheimer's disease are inherited as an autosomal dominant trait. Genetic linkage studies have mapped a locus (AD3) associated with susceptibility to a very aggressive form of Alzheimer's disease to...
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Article
Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene
WE report the cloning of a novel gene (E5-1) encoded on chromosome 1 which has substantial nucleotide and amino-acid sequence similarity to the S182 gene on chromosome 14q24.3. Mutations, including three new miss...
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Chapter and Conference Paper
Molecular Genetics of the Presenilins in Alzheimer’s Disease
Molecular genetic studies in pedigrees with a reasonably unambiguous single gene autosomal dominant pattern of inheritance have led to the identification of the four different genes associated with inherited s...
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Chapter
Presenilin Proteins and the Pathogenesis of Early-Onset Familial Alzheimer’s Disease: β-Amyloid Production and Parallels to Prion Diseases
In contrast to rare mutations in the amyloid presursor protein (APP) gene, missense mutations in the presenilin 1 (PS1) and presenilin 2 (PS2) genes, on chromosomes 14 and 1 respectively, are the most common c...
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Article
Presenilin mutations associated with Alzheimer disease cause defective intracellular trafficking of β-catenin,a component of the presenilin protein complex
The presenilin proteins are components of high–molecular–weight protein complexes in the endoplasmic reticulum and Golgi apparatus that also contain β-catenin. We report here that presenilin mutations associat...
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Article
35th Annual Meeting of the European Association for the Study of Diabetes
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Chapter and Conference Paper
Further Analysis of the Nicastrin: Presenilin Complex
Nicastrin (Yu et al. 2000) and the presenilins (Rogaev et al. 1995; Sherrington et al. 1995) form high molecular weight complexes that are involved in the cleavage of the β-amyloid precursor protein (βAPP; Citron...
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Article
Therapeutically effective antibodies against amyloid-β peptide target amyloid-β residues 4–10 and inhibit cytotoxicity and fibrillogenesis
Immunization of transgenic mouse models of Alzheimer disease using amyloid-β peptide (Aβ) reduces both the Alzheimer disease–like neuropathology and the spatial memory impairments of these mice. However, a the...
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Article
Baculoviruses expressing the human familial Alzheimer's disease presenilin 1 mutation lacking exon 9 increase levels of an amyloid beta-like protein in Sf9 cells
Presenilin 1 (PS1) plays a pivotal role in the production of the amyloid-β protein (Aβ) that is central to the pathogenesis of Alzheimer's disease. PS1 regulates the intramembranous proteolysis of a 99-amino-acid...
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Article
40th EASD Annual Meeting of the European Association for the Study of Diabetes
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Chapter
Genetics, molecular biology, and animal modeling of Alzheimer’s disease
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Article
Toxic oligomers and islet beta cell death: guilty by association or convicted by circumstantial evidence?
Type 2 diabetes is a progressive disease characterised by islet amyloid deposits in the majority of patients. Amyloid formation is considered a significant factor in deterioration of islet function and reducti...
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Article
Open AccessExtracellular Tau Oligomers Produce An Immediate Impairment of LTP and Memory
Non-fibrillar soluble oligomeric forms of amyloid-β peptide (oAβ) and tau proteins are likely to play a major role in Alzheimer’s disease (AD). The prevailing hypothesis on the disease etiopathogenesis is that...