Article
Creutzfeldt-Jakob disease (CJD) with a mutation at codon 148 of prion protein gene: relationship with sporadic CJD.
The American journal of pathology - 1 Dec 2005
Pastore Manuela, Chin Steven S, Bell Karen L, Dong Zhiqian, Yang Qiwei, Yang Lizhu, Yuan Jue, Chen Shu G, Gambetti Pierluigi, Zou Wen-Quan
Abstract excerpt
Creutzfeldt-Jakob disease (CJD), the most common human prion disease, includes sporadic (s) and familial (f) forms. Regardless of etiology, both forms are thought to share the pathogenic mechanism whereby the cellular prion protein (PrP(C)) converts into its pathogenic isoform (PrP(Sc)). While PrP(C) conversion is thought to be random in sCJD, conversion in fCJD is facilitated by the congenital presence of...
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