VPS35, VPS35 retromer complex component, 55737

N. diseases: 66; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3280133
Disease: PARKINSON DISEASE 17
PARKINSON DISEASE 17
0.900 Biomarker disease MGD VPS35 in Dopamine Neurons Is Required for Endosome-to-Golgi Retrieval of Lamp2a, a Receptor of Chaperone-Mediated Autophagy That Is Critical for α-Synuclein Degradation and Prevention of Pathogenesis of Parkinson's Disease. 26203154 2015
CUI: C3280133
Disease: PARKINSON DISEASE 17
PARKINSON DISEASE 17
0.900 GeneticVariation disease UNIPROT Mutation in VPS35 associated with Parkinson's disease impairs WASH complex association and inhibits autophagy. 24819384 2014
CUI: C3280133
Disease: PARKINSON DISEASE 17
PARKINSON DISEASE 17
0.900 Biomarker disease GENOMICS_ENGLAND Frequency of the ASP620ASN mutation in VPS35 and Arg1205His mutation in EIF4G1 in familial Parkinson's disease from South Italy. 24854799 2014
CUI: C3280133
Disease: PARKINSON DISEASE 17
PARKINSON DISEASE 17
0.900 GeneticVariation disease UNIPROT Retromer binding to FAM21 and the WASH complex is perturbed by the Parkinson disease-linked VPS35(D620N) mutation. 24980502 2014
CUI: C3280133
Disease: PARKINSON DISEASE 17
PARKINSON DISEASE 17
0.900 GeneticVariation disease UNIPROT RAB7L1 interacts with LRRK2 to modify intraneuronal protein sorting and Parkinson's disease risk. 23395371 2013
CUI: C3280133
Disease: PARKINSON DISEASE 17
PARKINSON DISEASE 17
0.900 Biomarker disease GENOMICS_ENGLAND Whole exome sequencing of rare variants in EIF4G1 and VPS35 in Parkinson disease. 23408866 2013
CUI: C3280133
Disease: PARKINSON DISEASE 17
PARKINSON DISEASE 17
0.900 GeneticVariation disease UNIPROT Identification of VPS35 mutations replicated in French families with Parkinson disease. 22517097 2012
CUI: C3280133
Disease: PARKINSON DISEASE 17
PARKINSON DISEASE 17
0.900 GeneticVariation disease UNIPROT VPS35 mutations in Parkinson disease. 21763482 2011
CUI: C3280133
Disease: PARKINSON DISEASE 17
PARKINSON DISEASE 17
0.900 GeneticVariation disease UNIPROT A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease. 21763483 2011
CUI: C3280133
Disease: PARKINSON DISEASE 17
PARKINSON DISEASE 17
0.900 Biomarker disease GENOMICS_ENGLAND
CUI: C3280133
Disease: PARKINSON DISEASE 17
PARKINSON DISEASE 17
0.900 Biomarker disease CTD_human
CUI: C3280133
Disease: PARKINSON DISEASE 17
PARKINSON DISEASE 17
0.900 CausalMutation disease CLINVAR
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.400 GeneticVariation disease BEFREE Mutation in two genes deglycase gene (DJ-1) and retromer complex component gene (VPS35) are linked with neurodegenerative disorder such as Parkinson's disease, Huntington's disease, and Alzheimer's disease. 31630641 2019
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.400 Biomarker disease BEFREE SNX6 is a transient subunit of the retromer, an endosome-Golgi retrieval complex whose Vps35 subunit is strongly associated with PD. 30640902 2019
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.400 GeneticVariation disease BEFREE The gene encoding vacuolar protein sorting protein 35 (VPS35) has been definitively linked to late onset familial PD following the identification of a point mutation (D620N) as the causal agent in a Swiss family. 30660673 2019
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.400 GeneticVariation disease BEFREE Unexpectedly, endogenous D620N VPS35 expression induces robust tau-positive somatodendritic pathology throughout the brain as indicated by abnormal hyperphosphorylated and conformation-specific tau, which may represent an important and early feature of mutant VPS35-induced neurodegeneration in PD. 30842285 2019
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.400 Biomarker disease BEFREE Our data reveal a novel functional interaction of parkin with VPS35 that may be important for retromer-mediated endosomal sorting and PD. 29893854 2018
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.400 GeneticVariation disease BEFREE The Parkinson's disease VPS35[D620N] mutation enhances LRRK2-mediated Rab protein phosphorylation in mouse and human. 29743203 2018
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.400 Biomarker disease BEFREE In this review, we summarize the mutations of main seven genes (α-synuclein, LRRK2, PINK1, Parkin, DJ-1, VPS35 and GBA1) linked to PD, discuss the potential mechanisms for the loss of dopaminergic neurons (dopamine metabolism, mitochondrial dysfunction, endoplasmic reticulum stress, impaired autophagy, and deregulation of immunity) in PD, and expect the development direction for treatment of PD. 29719505 2018
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.400 GeneticVariation disease BEFREE Importantly, VPS35 D620N mutant-induced mitochondrial fragmentation and respiratory deficits could be rescued by the treatment of this decoy peptide in both M17 cells overexpressing D620N or PD fibroblasts bearing this mutation. 28040727 2017
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.400 GeneticVariation disease BEFREE A hereditary Parkinson's-disease-causing point mutation (D620N) in the retromer subunit VPS35 perturbs retromer's association with the WASH complex and also with the uncharacterized protein ankyrin-repeat-domain-containing protein 50 (ANKRD50). 27909246 2017
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.400 GeneticVariation disease BEFREE Identification of VPS35 p.D620N mutation-related Parkinson's disease in a Taiwanese family with successful bilateral subthalamic nucleus deep brain stimulation: a case report and literature review. 28985717 2017
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.400 GeneticVariation disease BEFREE Mutations in vacuolar protein sorting 35 (VPS35) cause autosomal dominant PD and we recently demonstrated that pathogenic VPS35 mutations cause mitochondrial damage through enhanced mitochondrial fragmentation. 28765075 2017
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.400 GeneticVariation disease BEFREE Following the discovery of the PD-causing D620N mutation in the VPS35 (Vacuolar sorting protein 35) gene, dysfunction in the subcellular retromer complex has been strongly implicated in pathogenesis of PD. 27964832 2017
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.400 Biomarker disease BEFREE Present data support a role for perturbed VPS35 and retromer function in the pathogenesis of PD. 28222538 2017