Article
Disease-related misassembly of membrane proteins.
Annual review of biophysics and biomolecular structure - 1 Jan 2004
Sanders Charles R, Myers Jeffrey K
Abstract excerpt
Medical genetics so far has identified approximately 16,000 missense mutations leading to single amino acid changes in protein sequences that are linked to human disease. A majority of these mutations affect folding or trafficking, rather than specifically affecting protein function. Many disease-linked mutations occur in integral membrane proteins, a class of proteins about whose folding we know very little. We...
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