Article
Biological network inferences for a protection mechanism against familial Creutzfeldt-Jakob disease with E200K pathogenic mutation.
BMC medical genomics - 22 Aug 2014
Lee Sol Moe, Chung Myungguen, Hwang Kyu Jam, Ju Young Ran, Hyeon Jae Wook, Park Jun-Sun, Kim Chi-Kyeong, Choi Sangho, Lee Jeongmin, Kim Su Yeon
Abstract excerpt
BACKGROUND: Human prion diseases are caused by abnormal accumulation of misfolded prion protein in the brain tissue. Inherited prion diseases, including familial Creutzfeldt-Jakob disease (fCJD), are associated with mutations of the prion protein gene (PRNP). The glutamate (E)-to-lysine (K) substitution at codon 200 (E200K) in PRNP is the most common pathogenic mutation causing fCJD, but the E200K pathogenic...
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