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 |
Parkinson Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the retromer component Vps35 and endosomal kinase LRRK2 are linked to autosomal dominant forms of familial Parkinson's disease (PD).
|
28482024 |
2017 |
Parkinson Disease
|
0.400 |
Biomarker
|
disease |
BEFREE |
Mutation in the retromer-complex protein VPS35, which is involved in endosome to Golgi transport, was suggested to cause familial PD.
|
28722658 |
2017 |
Parkinson Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
To clarify the underlying cellular mechanism of the VPS35 D620N mutation in PD, cell growth and endosomal‑lysosomal functions were investigated in Saccharomyces cerevisiae (sc) yeast cells that exhibited various expression levels of scVPS35, in the presence or absence of non‑toxic expression levels of α‑synuclein.
|
28487947 |
2017 |
Parkinson Disease
|
0.400 |
Biomarker
|
disease |
BEFREE |
We also identified the retromer component, Vps35, another PD-associated gene that has recently been shown to interact genetically with parkin.
|
28399880 |
2017 |
Parkinson Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Finally, we find surprising differences between Alzheimer's- and Parkinson's-disease-linked VPS35 mutations in supporting this pathway.
|
28384478 |
2017 |
Parkinson Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Highly penetrant mutations in SNCA, Parkin, DJ-1, PINK 1, LRRK2 and VPS35 produce rare, monogenic forms of the disease, while unique variants within LRRK2 and GBA show incomplete penetrance and are strong risk factors for PD.
|
27090875 |
2016 |
Parkinson Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Overall, the Vps35 R524W-containing retromer has a decreased endosomal association, which can be partially rescued by R55, a small molecule previously shown to stabilize the retromer complex, supporting the potential for future targeting of the retromer complex in the treatment of Parkinson disease.
|
27385586 |
2016 |
Parkinson Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The absence of mutations in VPS35 and SNCA genes reveals that they are uncommon causes of PD in Brazil, corroborating previous studies that also failed to detect these genetic variants in PD patients from other populations.
|
27777137 |
2016 |
Parkinson Disease
|
0.400 |
Biomarker
|
disease |
BEFREE |
These results revealed a novel cellular mechanism for the involvement of VPS35 in mitochondrial fission, dysregulation of which is probably involved in the pathogenesis of familial, and possibly sporadic, PD.
|
26618722 |
2016 |
Parkinson Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
However, neither the R120W nor the N370S variant of the GBA gene nor D620N mutation of the VPS35 gene were detected among the PD cases or the controls.
|
26547032 |
2016 |
Parkinson Disease
|
0.400 |
Biomarker
|
disease |
BEFREE |
Increased copper toxicity in Saccharomyces cerevisiae lacking VPS35, a component of the retromer and monogenic Parkinson disease gene in humans.
|
27262440 |
2016 |
Parkinson Disease
|
0.400 |
Biomarker
|
disease |
BEFREE |
However, it is unclear whether there is a link between VPS35 and dopamine signaling in PD.
|
27460146 |
2016 |