PRKN, parkin RBR E3 ubiquitin protein ligase, 5071

N. diseases: 409; N. variants: 88
Disease: Parkinson Disease 6, Autosomal Recessive Early-Onset ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1853833
Disease: Parkinson Disease 6, Autosomal Recessive Early-Onset
Parkinson Disease 6, Autosomal Recessive Early-Onset 		0.030 Biomarker disease BEFREE In addition, memantine enhanced elimination of degraded mitochondrial in neurons derived from induced pluripotent stem cells of PARK2 or PARK6 patients, who exhibited defective PINK1/parkin-mediated mitophagy, suggests that memantine accelerated the clearance of damaged mitochondria. 31431260 2019
CUI: C1853833
Disease: Parkinson Disease 6, Autosomal Recessive Early-Onset
Parkinson Disease 6, Autosomal Recessive Early-Onset 		0.030 Biomarker disease BEFREE In this study, we generated DA neurons from PARK2 patient-specific, isogenic PARK2 null and PARK6 patient-specific induced pluripotent stem cells and found that these neurons exhibited more apoptosis and greater susceptibility to rotenone-induced mitochondrial stress. 30344006 2018
CUI: C1853833
Disease: Parkinson Disease 6, Autosomal Recessive Early-Onset
Parkinson Disease 6, Autosomal Recessive Early-Onset 		0.030 GeneticVariation disease BEFREE Mutations in PARK6 (PINK1) and PARK2 (Parkin) are linked to rare familial cases of Parkinson's disease (PD). 29166608 2017