PRKN, parkin RBR E3 ubiquitin protein ligase, 5071

N. diseases: 409; N. variants: 88
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162534
Disease: Prion Diseases
Prion Diseases
0.050 Biomarker group BEFREE Parkin, an E3 ubiquitin ligase, has been studied extensively in all major protein misfolding aggregating diseases, especially Parkinson's disease and Alzheimer's disease, but the role of parkin in TSEs remains unknown. 27430567 2017
CUI: C0162534
Disease: Prion Diseases
Prion Diseases
0.050 Biomarker group BEFREE A cell-based prion infection assay did not provide supportive evidence for a role for PARK2 in prion disease susceptibility. 25726360 2015
CUI: C0162534
Disease: Prion Diseases
Prion Diseases
0.050 Biomarker group BEFREE Mice lacking the Mahogunin Ring Finger 1 (MGRN1) E3 ubiquitin ligase develop spongiform encephalopathy by 9 months of age but do not become ill. 23383230 2013
CUI: C0162534
Disease: Prion Diseases
Prion Diseases
0.050 Biomarker group BEFREE HECTD2, an E3 ubiquitin ligase, has been linked to the incubation time of prion disease in mice, and its polymorphisms have been associated with sporadic Creutzfeldt-Jakob disease (CJD) in the British population. 21335971 2011
CUI: C0162534
Disease: Prion Diseases
Prion Diseases
0.050 Biomarker group BEFREE We have used a heterogeneous stock of mice to identify Hectd2, an E3 ubiquitin ligase, as a quantitative trait gene for prion disease incubation time in mice. 19214206 2009