Dutch-type cerebral amyloid angiopathy

From Aaushi
Jump to navigation Jump to search

Introduction

Glutamate (E) to glutamine (Q) mutation in A4-region of amyloid precursor protein (APP). This mutation enhances the aggregational properties of the A4 amyloid peptide[3] & may affect APP alpha- secretase activity (see APP-695 membrane region).

More general terms

References

  1. Levy E, Carman MD, Fernandez-Madrid IJ, Power MD, Lieberburg I, van Duinen SG, Bots GT, Luyendijk W, Frangione B. Mutation of the Alzheimer's disease amyloid gene in hereditary cerebral hemorrhage, Dutch type. Science. 1990 Jun 1;248(4959):1124-6. PMID: https://www.ncbi.nlm.nih.gov/pubmed/2111584
  2. OMIM 104760.0001
  3. 3.0 3.1 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

Database