Article
Distinct glycoform ratios of protease resistant prion protein associated with PRNP point mutations.
Brain : a journal of neurology - 1 Mar 2006
Hill Andrew F, Joiner Susan, Beck Jonathan A, Campbell Tracy A, Dickinson Andrew, Poulter Mark, Wadsworth Jonathan D F, Collinge John
Abstract excerpt
Inherited prion diseases are neurodegenerative disorders caused by autosomal dominant mutations in the human prion protein gene (PRNP). Kindred with inherited prion disease can show remarkable phenotypic variability that has yet to be explained. Here we report analysis of protease resistant disease-related prion protein (PrP(Sc)) isoforms from a range of inherited prion disease cases (point mutations P102L,...
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