Article
Allelic origin of protease-sensitive and protease-resistant prion protein isoforms in Gerstmann-Sträussler-Scheinker disease with the P102L mutation.
PloS one - 1 Jan 2012
Monaco Salvatore, Fiorini Michele, Farinazzo Alessia, Ferrari Sergio, Gelati Matteo, Piccardo Pedro, Zanusso Gianluigi, Ghetti Bernardino
Abstract excerpt
Gerstmann-Sträussler-Scheinker (GSS) disease is a dominantly inherited prion disease associated with point mutations in the Prion Protein gene. The most frequent mutation associated with GSS involves a proline-to-leucine substitution at residue 102 of the prion protein, and is characterized by marked variability at clinical, pathological and molecular levels. Previous investigations of GSS P102L have shown that...
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