Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs188286943
rs188286943
0.100 GeneticVariation 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

dbSNP: rs188286943
rs188286943
0.100 GeneticVariation 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

dbSNP: rs188286943
rs188286943
0.100 GeneticVariation BEFREE Parkin is not required for dopaminergic neurodegeneration induced by the expression of PD-linked D620N VPS35 in mice, consistent with VPS35 being located downstream of parkin function. 29893854

2018

dbSNP: rs188286943
rs188286943
0.100 GeneticVariation BEFREE The Parkinson's disease VPS35[D620N] mutation enhances LRRK2-mediated Rab protein phosphorylation in mouse and human. 29743203

2018

dbSNP: rs188286943
rs188286943
0.100 GeneticVariation 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

dbSNP: rs188286943
rs188286943
0.100 GeneticVariation 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

dbSNP: rs188286943
rs188286943
0.100 GeneticVariation BEFREE The D620N mutation in the endosomal‑lysosomal gene, vacuolar protein sorting‑associated protein 35 (VPS35), has been linked to PD. 28487947

2017

dbSNP: rs188286943
rs188286943
0.100 GeneticVariation BEFREE A single missense mutation, AspD620Asn (D620N), has so far been unambiguously identified to cause PD in multiple individuals and families worldwide. 28222538

2017

dbSNP: rs188286943
rs188286943
0.100 GeneticVariation BEFREE Role of the VPS35 D620N mutation in Parkinson's disease. 27964832

2017

dbSNP: rs188286943
rs188286943
0.100 GeneticVariation 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

dbSNP: rs188286943
rs188286943
0.100 GeneticVariation BEFREE Here we demonstrate that PD-associated VPS35 mutations caused mitochondrial fragmentation and cell death in cultured neurons in vitro, in mouse substantia nigra neurons in vivo and in human fibroblasts from an individual with PD who has the VPS35(D620N) mutation. 26618722

2016

dbSNP: rs188286943
rs188286943
0.100 GeneticVariation BEFREE More importantly, although the PD-associated VPS35 mutant VPS35 (D620N) still interacted with DRD1, its expression did not affect cell surface recycling of DRD1 and phosphorylation of CREB/ERK nor rescue the reduction of CREB/ERK phosphorylation caused by VPS35 downregulation. 27460146

2016

dbSNP: rs188286943
rs188286943
0.100 GeneticVariation BEFREE Our data support that the VPS35 D620N and EIF4G1 R1205H mutations are not a common cause of PD in the Greek population. 26300542

2015

dbSNP: rs188286943
rs188286943
0.100 GeneticVariation BEFREE Retromer-dependent neurotransmitter receptor trafficking to synapses is altered by the Parkinson's disease VPS35 mutation p.D620N. 25416282

2015

dbSNP: rs188286943
rs188286943
0.100 GeneticVariation BEFREE EIF4G1 R1205H and VPS35 D620N mutations are rare in Parkinson's disease from South Africa. 24080171

2014

dbSNP: rs188286943
rs188286943
0.100 GeneticVariation BEFREE These data define the primary molecular defect in retromer assembly that arises from the VPS35(D620N) mutation and, by revealing functional effects on retromer-mediated endosome-to-TGN transport, provide new insight into retromer deregulation in Parkinson disease. 24980502

2014

dbSNP: rs188286943
rs188286943
0.100 GeneticVariation BEFREE In summary, we find that the expression of Vps35 D620N leads to endosomal alterations and trafficking defects that may partly explain its action in PD. 24152121

2014

dbSNP: rs188286943
rs188286943
0.100 GeneticVariation BEFREE Recently, 2 studies identified the Asp620Asn mutation in the vacuolar protein sorting 35 (VPS35) gene, and the Arg1205His in the eukaryotic translation initiation factor 4 gamma 1 gene (EIF4G1) were reported to be associated an autosomal dominant form of PD. 24854799

2014

dbSNP: rs188286943
rs188286943
0.100 GeneticVariation BEFREE VPS35 Asp620Asn and EIF4G1 Arg1205His mutations are rare in Parkinson disease from southwest China. 23261770

2013

dbSNP: rs188286943
rs188286943
0.100 GeneticVariation BEFREE Our study apart from identifying the p.Asp620Asn variant in familial cases also identified it in idiopathic Parkinson disease cases, and thus provides genetic evidence for a role of p.Asp620Asn in Parkinson disease in different populations worldwide. 23125461

2012

dbSNP: rs188286943
rs188286943
0.100 GeneticVariation BEFREE We conclude that the VPS35 c.1858G>A mutation is an uncommon cause of familial Parkinson's disease in our population. 22154191

2012

dbSNP: rs188286943
rs188286943
0.100 GeneticVariation BEFREE Frequency of the D620N mutation in VPS35 in Parkinson disease. 22801713

2012

dbSNP: rs188286943
rs188286943
0.100 GeneticVariation BEFREE Our results suggested that VPS35 Asp620Asn may be not associated with PD in Chinese population. 22410496

2012