Article
The residue 129 polymorphism in human prion protein does not confer susceptibility to Creutzfeldt-Jakob disease by altering the structure or global stability of PrPC.
The Journal of biological chemistry - 2 Jul 2004
Hosszu Laszlo L P, Jackson Graham S, Trevitt Clare R, Jones Samantha, Batchelor Mark, Bhelt Daljit, Prodromidou Kanella, Clarke Anthony R, Waltho Jonathan P, Collinge John
Abstract excerpt
There are two common forms of prion protein (PrP) in humans, with either methionine or valine at position 129. This polymorphism is a powerful determinant of the genetic susceptibility of humans toward both sporadic and acquired forms of prion disease and restricts propagation of particular prion strains. Despite its key role, we have no information on the effect of this mutation on the structure, stability,...
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