[HTML][HTML] Familial mutations and the thermodynamic stability of the recombinant human prion protein
W Swietnicki, RB Petersen, P Gambetti… - Journal of Biological …, 1998 - ASBMB
Hereditary forms of human prion disease are linked to specific mutations in the PRNP gene.
It has been postulated that these mutations may facilitate the pathogenic process by
reducing the stability of the prion protein (PrP). To test this hypothesis, we characterized the
recombinant variants of human PrP (90–231) containing point mutations corresponding to
Gerstmann-Straussler-Scheinker disease (P102L), Creutzfeld-Jakob disease (E200K), and
fatal familial insomnia (M129/D178N). The first two of these mutants could be recovered form …
It has been postulated that these mutations may facilitate the pathogenic process by
reducing the stability of the prion protein (PrP). To test this hypothesis, we characterized the
recombinant variants of human PrP (90–231) containing point mutations corresponding to
Gerstmann-Straussler-Scheinker disease (P102L), Creutzfeld-Jakob disease (E200K), and
fatal familial insomnia (M129/D178N). The first two of these mutants could be recovered form …