Article
Trans-suppression of misfolding in an amyloid disease.
Science (New York, N.Y.) - 28 Sept 2001
Hammarström P, Schneider F, Kelly J W
Abstract excerpt
The transthyretin (TTR) amyloid diseases, representative of numerous misfolding disorders, are of considerable interest because there are mutations that cause or suppress disease. The Val30 --> Met30 (V30M) TTR mutation is the most prevalent cause of familial amyloid polyneuropathy in heterozygotes, whereas a Thr119 --> Met119 (T119M) mutation on the second TTR allele protects V30M carriers from disease. Here, we...
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