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

@article{Rogaev1995FamilialAD,
  title={Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene},
  author={Evgeny I. Rogaev and Robin Sherrington and Ekaterina Rogaeva and Georges Lévesque and Masaki Ikeda and Y. Liang and H. Chi and C. Lin and K. Holman and Takehide Tsuda and Lynn Mar and Sandro Sorbi and Benedetta Nacmias and Silvia Piacentini and Luigi A. Amaducci and Ilya Chumakov and Daniel Cohen and Lars Lannfelt and Paul E. Fraser and Johanna M. Rommens and Peter St. George-Hyslop},
  journal={Nature},
  year={1995},
  volume={376},
  pages={775-778}
}
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 missense mutations in the S182 gene, are associated with the AD3 subtype of early-onset familial Alzheimer's disease (AD)1. Both the E5-1 and the S182 proteins are predicted to be integral membrane proteins with seven membrane-spanning domains, and a large exposed loop between the sixth and… Expand
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  • J. Li, J. Ma, H. Potter
  • Biology, Medicine
  • Proceedings of the National Academy of Sciences of the United States of America
  • 1995
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Analysis of additional members of a pedigree known to segregate a Met239Val mutation in PS-2 revealed that the age of onset of symptoms is highly variable (range 45-88 years), and this variability is not attributable to differences in ApoE genotypes. Expand
Familial Alzheimer's disease genes in Japanese
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The data indicate that PS-1 mutations account for 20.0% of early onset FAD cases in Japan, which could be explained only partially by apolipoprotein E epsilon4, important FAD genes or risk-factor genes remain to be identified. Expand
Clinicopathological features of familial Alzheimer's disease associated with the M139V mutation in the presenilin 1 gene. Pedigree but not mutation specific age at onset provides evidence for a further genetic factor.
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Gene identification in Alzheimer's disease.
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Intense efforts are underway to identify additional susceptibility genes and promising regions on chromosomes 6, 9, 10 and 12 have been identified through whole genome scans, and the genetic basis of several other non-AD inherited dementias has been unravelled. Expand
Novel presenilin-1 Y159F sequence variant associated with early-onset Alzheimer's disease
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A novel nucleotide sequence variant was discovered in one allele for presenilin-1, corresponding to a missense tyrosine-to-phenylalanine change at codon 159 (Y159F), and likely represents a mutation causing familial, early-onset Alzheimer's disease. Expand
Genetics of Alzheimer's disease.
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Genetic variability at the apoliprotein E locus is a major determinant of late onset Alzheimer's disease and the 'amyloid cascade hypothesis', which proposes that overproduction or failure to clear the peptide A beta 42 is always central to the disease. Expand
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