Title |
Biological network inferences for a protection mechanism against familial Creutzfeldt-Jakob disease with E200K pathogenic mutation
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Published in |
BMC Medical Genomics, August 2014
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DOI | 10.1186/1755-8794-7-52 |
Pubmed ID | |
Authors |
Sol Moe Lee, Myungguen Chung, Kyu Jam Hwang, Young Ran Ju, Jae Wook Hyeon, Jun-Sun Park, Chi-Kyeong Kim, Sangho Choi, Jeongmin Lee, Su Yeon Kim |
Abstract |
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 mutation alone is regarded insufficient to cause prion diseases; thus, additional unidentified factors are proposed to explain the penetrance of E200K-dependent fCJD. Here, exome differences and biological network analysis between fCJD patients with E200K and healthy individuals, including a non-CJD individual with E200K, were analysed to gain new insights into possible mechanisms for CJD in individuals carrying E200K. |
X Demographics
Geographical breakdown
Country | Count | As % |
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United States | 1 | 50% |
Korea, Republic of | 1 | 50% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 2 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Luxembourg | 1 | 4% |
Brazil | 1 | 4% |
Unknown | 24 | 92% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Ph. D. Student | 6 | 23% |
Other | 4 | 15% |
Researcher | 4 | 15% |
Student > Postgraduate | 3 | 12% |
Professor | 2 | 8% |
Other | 4 | 15% |
Unknown | 3 | 12% |
Readers by discipline | Count | As % |
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Biochemistry, Genetics and Molecular Biology | 6 | 23% |
Medicine and Dentistry | 4 | 15% |
Agricultural and Biological Sciences | 3 | 12% |
Neuroscience | 3 | 12% |
Nursing and Health Professions | 2 | 8% |
Other | 4 | 15% |
Unknown | 4 | 15% |