Article
Effect of the D178N mutation and the codon 129 polymorphism on the metabolism of the prion protein.
The Journal of biological chemistry - 24 May 1996
Petersen R B, Parchi P, Richardson S L, Urig C B, Gambetti P
Abstract excerpt
Prion diseases are thought to be caused by the conversion of the normal, or cellular, prion protein (PrPC)(PrPres). There are three familial forms of human prion disease, Creutzfeldt-Jakob disease (CJD), Gerstmann-Straussler-Scheinker syndrome, and fatal familial insomnia (FFI) which are all expressed at advanced age despite the congenital presence of the mutant prion protein (PrPM). The cellular mechanisms that...
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