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 |
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 |
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 |
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 |
PARKINSON DISEASE 17
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
RAB7L1 interacts with LRRK2 to modify intraneuronal protein sorting and Parkinson's disease risk.
|
23395371 |
2013 |
PARKINSON DISEASE 17
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Whole exome sequencing of rare variants in EIF4G1 and VPS35 in Parkinson disease.
|
23408866 |
2013 |
PARKINSON DISEASE 17
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Identification of VPS35 mutations replicated in French families with Parkinson disease.
|
22517097 |
2012 |
PARKINSON DISEASE 17
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
VPS35 mutations in Parkinson disease.
|
21763482 |
2011 |
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 |
PARKINSON DISEASE 17
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
PARKINSON DISEASE 17
|
0.900 |
Biomarker
|
disease |
CTD_human |
|
|
|
PARKINSON DISEASE 17
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |