Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 Biomarker disease BEFREE We hypothesized that neuronal parkin, a known E3 ubiquitin ligase, facilitates the formation of Lewy bodies (LBs), a pathological hallmark of PD. 12000718 2002
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 Biomarker disease BEFREE Parkin is an E3 ubiquitin ligase involved in the ubiquitination of proteins that are important in the survival of dopamine neurons in Parkinson's disease (PD). 15105460 2004
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 AlteredExpression disease BEFREE The underlying mechanism of pathogenesis in parkin-associated Parkinson's disease (PD) is thought to be due to the loss of parkin's E3 ubiquitin ligase activity. 16049031 2005
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 GeneticVariation disease BEFREE Recently, mutations in Parkin, another E3 ubiquitin ligase which ubiquinates synphilin-1 and glycosylated alpha-synuclein, have been defined as a major cause of autosomal recessive PD. 16752048 2006
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 AlteredExpression disease BEFREE For example, extensive PPI screens for parkin, a hereditary Parkinson's disease gene, elucidated the function of parkin as an E3 ubiquitin ligase, with localization and activity regulated by contact with its interaction partners, uncovering at least a part of the molecular pathogenesis of Parkinson's disease. 16840513 2006
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 GeneticVariation disease BEFREE Mutations in the parkin gene, encoding an E3 ubiquitin ligase, are responsible for the majority of autosomal recessive PD. 18020977 2007
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 Biomarker disease BEFREE Parkin is an E3 ubiquitin ligase encoded by the Parkin gene (also called PARK2, located at 6q25.2-q27) and is involved in the pathogenesis of Parkinson's disease and the development of cancer. 19214989 2009
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 GeneticVariation disease BEFREE The E3 ubiquitin ligase Parkin targets several proteins for UPS degradation, and Parkin mutations are the major cause of autosomal recessive Parkinson's disease. 19610108 2010
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 Biomarker disease BEFREE The E3 ubiquitin ligase Nrdp1 is shown to interact with the N terminal of Parkin (the first 76 amino acids) and catalyze degradation of Parkin via the ubiquitin-proteasome pathway, suggesting that Nrdp1 may be involved in the development of PD via the regulation of Parkin, We believe we are the first to have screened PD patients for mutations in the Nrdp1 gene to determine the association between these variants and PD. 19800834 2010
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 Biomarker disease BEFREE TRIM9, a novel brain-specific E3 ubiquitin ligase, is repressed in the brain of Parkinson's disease and dementia with Lewy bodies. 20085810 2010
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 Biomarker disease BEFREE The proposed functions of some of these genes (e.g., E3 ubiquitin ligase, redox-dependent chaperone) have led to the hypothesis that dysfunction of protein quality control pathways contributes to PD neurodegeneration. 20187256 2010
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 GeneticVariation disease BEFREE Mutations in the PTEN-induced putative kinase 1 (PINK1), a mitochondrial serine-threonine kinase, and Parkin, an E3 ubiquitin ligase, are associated with autosomal-recessive forms of Parkinson disease (PD). 20508036 2010
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 GeneticVariation disease BEFREE Mutations in parkin, an E3 ubiquitin ligase, are the most common cause of autosomal-recessive Parkinson's disease (PD). 21209200 2011
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 Biomarker disease BEFREE Parkin, an E3 ubiquitin ligase implicated in Parkinson's disease, promotes degradation of dysfunctional mitochondria by autophagy. 21296869 2011
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 GeneticVariation disease BEFREE Mutations in PTEN-induced kinase-1 (PINK1), which encodes a mitochondrial kinase, and PARKIN, encoding an E3 ubiquitin ligase, are the most frequent causes of recessive Parkinson's disease. 21355049 2011
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 Biomarker disease BEFREE Parkin is an E3-ubiquitin ligase belonging to the RBR (RING-InBetweenRING-RING family), and is involved in the neurodegenerative disorder Parkinson's disease. 21694720 2011
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 Biomarker disease BEFREE We therefore investigated whether Parkin, an E3 ubiquitin ligase found to be defective in patients with early onset PD, regulates systemic lipid metabolism. 21865652 2011
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 Biomarker disease BEFREE Here, we summarize aspects of fatty acid biology relevant to Parkinson's disease; the known links between the modulation of fat and Parkinson's disease and introduce mechanisms whereby the E3-ubiquitin ligase, Parkin known to be mutated as a genetic predisposing factor in Parkinson's disease, modulates fat uptake and mitochondrial control. 22488424 2012
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 Biomarker disease BEFREE Furthermore, we demonstrate that Nedd4, another E3 ubiquitin ligase that may have a role in PD, is functionally related to Sep4 and could be involved in regulating Sep4 subcellular localization/trafficking. 22562816 2012
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 AlteredExpression disease BEFREE Parkin E3 ubiquitin-ligase activity and its role in mitochondria homeostasis are thought to play a role in Parkinson's disease (PD). 23393160 2013
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 GeneticVariation disease BEFREE Parkin, a RING-between-RING-type E3 ubiquitin ligase associated with Parkinson's disease, has a wide neuroprotective activity, preventing cell death in various stress paradigms. 23453807 2013
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 Biomarker disease BEFREE Mutations in the gene encoding parkin, a neuroprotective protein with dual functions as an E3 ubiquitin ligase and transcriptional repressor of p53, are linked to familial forms of Parkinson's disease (PD). 23985028 2013
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 GeneticVariation disease BEFREE Loss-of-function mutations in PARK2, the gene encoding the E3 ubiquitin ligase Parkin, are the most frequent cause of recessive Parkinson's disease (PD). 24852371 2014
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 GeneticVariation disease BEFREE Mutations of parkin, an E3 ubiquitin ligase that strongly binds to microtubules, are the most frequent cause of recessively inherited PD. 25332110 2015
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 Biomarker disease BEFREE The discovery of mutations in genes encoding protein kinase PTEN-induced kinase 1 (PINK1) and E3 ubiquitin ligase Parkin in familial Parkinson's disease and their association with mitochondria provides compelling evidence that mitochondrial dysfunction is a major contributor to neurodegeneration in Parkinson's disease. 25345844 2015