Article
Modulation of Creutzfeldt-Jakob disease prion propagation by the A224V mutation.
Annals of neurology - 1 Oct 2015
Watts Joel C, Giles Kurt, Serban Ana, Patel Smita, Oehler Abby, Bhardwaj Sumita, Guan Shenheng, Greicius Michael D, Miller Bruce L, DeArmond Stephen J, Geschwind Michael D, Prusiner Stanley B
Abstract excerpt
OBJECTIVE: Mutations in the gene encoding the prion protein (PrP) are responsible for approximately 10 to 15% of cases of prion disease in humans, including Creutzfeldt-Jakob disease (CJD). Here, we report on the discovery of a previously unreported C-terminal PrP mutation (A224V) in a CJD patient exhibiting a disease similar to the rare VV1 subtype of sporadic (s) CJD and investigate the role of this mutation in...
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