Presenilins and early-onset familial Alzheimer's disease.

  title={Presenilins and early-onset familial Alzheimer's disease.},
  author={H A Rohan de Silva and Akash J Patel},
  volume={8 8},
Thirty-seven missense mutations and a splice-site mutation in the presenilin gene PS1 on chromosome 14 and two missense mutations PS2 on chromosome 1 co-segregate with early-onset familial Alzheimer's disease (AD). The presenilins belong to a family of conserved integral membrane proteins which include Caenorhabditis elegans SPE4 and SEL12 and the rat apoptosis-linked gene, ALG3. This review summarizes the genetics of presenilins in AD and indicators of putative function based on cellular… CONTINUE READING

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