Swedish FAD double mutation (FAD1)
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Introduction
Adjacent Lys to Asn & Met to Leu mutations in the APP-gene immediately N-terminal to the beta-secretase cleavage site of the amyloid precursor protein (APP). (see APP-695 membrane region)
This changes the motif at the beta secretase site to one with improved caspase recognition elements, in particular for group III caspases such as caspase-6 in addition to cleavage of APP by beta-secretase. The result is an increased formation of A4/42 & A4/40.
More general terms
References
- ↑ 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