presenilin-2 (PS-2) gene (E5-1, STM2, ALG-3 {mouse homolog})

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Introduction

E5-1; mouse ALG-3. ALG-3 is the mouse homolog of Alzheimer's disease protein STM2 that rescues a T-cell hybridoma cell from T-cell receptor & Fas-induced apoptosis. AD4 locus. 3 missense mutations in the PS-2 gene give give to familial Alzheimer's disease type 4 (FAD4).

More general terms

Additional terms

References

  1. Levy-Lahad E, Wasco W, Poorkaj P, Romano DM, Oshima J, Pettingell WH, Yu CE, Jondro PD, Schmidt SD, Wang K, et al. Candidate gene for the chromosome 1 familial Alzheimer's disease locus. Science. 1995 Aug 18;269(5226):973-7. PMID: https://www.ncbi.nlm.nih.gov/pubmed/7638622
  2. Rogaev EI, Sherrington R, Rogaeva EA, Levesque G, Ikeda M, Liang Y, Chi H, Lin C, Holman K, Tsuda T, et al. Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene. Nature. 1995 Aug 31;376(6543):775-8. PMID: https://www.ncbi.nlm.nih.gov/pubmed/7651536
  3. Vito P et al Interfering with apoptosis: Ca(2+)-binding protein ALG-2 and Alzheimer's disease gene ALG-3. Science. 1996 Jan 26;271(5248):521-5. PMID: https://www.ncbi.nlm.nih.gov/pubmed/8560270
  4. The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families. Alzheimer's Disease Collaborative Group. Nat Genet. 1995 Oct;11(2):219-22. PMID: https://www.ncbi.nlm.nih.gov/pubmed/7550356
  5. Selkoe DJ. Alzheimer's disease: genes, proteins, and therapy. Physiol Rev. 2001 Apr;81(2):741-66. Review. PMID: https://www.ncbi.nlm.nih.gov/pubmed/11274343

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