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Dutch-type cerebral amyloid angiopathy
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).
Interactions
disease interactions
General
cerebral amyloid angiopathy (CAA)
familial Alzheimer's disease type 1 (FAD1), APP associated
Properties
AMYLOID-PROTEIN: A4 amyloid peptide
PROTEIN-PRECURSOR: amyloid precursor protein
Database Correlations
OMIM 104760
MORBIDMAP 104760
References
- 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: 2111584
- OMIM 104760.0001
- Selkoe DJ.
Alzheimer's disease: genes, proteins, and therapy.
Physiol Rev. 2001 Apr;81(2):741-66. Review.
PMID: 11274343