+ Site Statistics
+ Search Articles
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ PDF Full Text
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Translate
+ Recently Requested

Contributions of VPS35 mutations to Parkinson's Disease

Contributions of VPS35 mutations to Parkinson's Disease

Neuroscience 2019

Parkinson's Disease (PD) is a multi-system neurodegenerative disease where approximately 90% of cases are idiopathic. The remaining 10% of the cases can be traced to a genetic origin and research has largely focused on these associated genes to gain a better understanding of the molecular and cellular pathogenesis for PD. 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. Since its discovery, numerous studies have been undertaken to characterize the role of VPS35 in cellular processes and efforts have been directed toward understanding the perturbations caused by the D620N mutation. In this review, we examine what is currently known about VPS35, which has pleiotropic effects, as well as proposed mechanisms of pathogenesis by the D620N mutation. A brief survey of other VPS35 polymorphisms is also provided. Lastly, model systems that are being utilized for these investigations and possible directions for future research are discussed.

(PDF emailed within 0-6 h: $19.90)

Accession: 066104984

Download citation: RISBibTeXText

PMID: 30660673

DOI: 10.1016/j.neuroscience.2019.01.006

Related references

VPS35 mutations in Parkinson disease. American Journal of Human Genetics 89(1): 162-167, 2011

Screening for VPS35 mutations in Parkinson's disease. Neurobiology of Aging 33(4): 838.E1-5, 2012

VPS35 and EIF4G1 mutations are rare in Parkinson's disease among Indians. Neurobiology of Aging 34(10): 2442.E1-3, 2014

Parkinson's disease-linked mutations in VPS35 induce dopaminergic neurodegeneration. Human Molecular Genetics 23(17): 4621-4638, 2015

Identification of VPS35 mutations replicated in French families with Parkinson disease. Neurology 78(18): 1449-1450, 2012

VPS35 Asp620Asn and EIF4G1 Arg1205His mutations are rare in Parkinson disease from southwest China. Neurobiology of Aging 34(6): 1709.E7-8, 2013

EIF4G1 R1205H and VPS35 D620N mutations are rare in Parkinson's disease from South Africa. Neurobiology of Aging 35(2): 445.E1-3, 2014

An assessment of the frequency of mutations in the GBA and VPS35 genes in Hungarian patients with sporadic Parkinson's disease. Neuroscience Letters 610: 135-138, 2016

Autosomal dominant Parkinson's disease: Incidence of mutations in LRRK2, SNCA, VPS35 and GBA genes in Brazil. Neuroscience Letters 635(): 67-70, 2016

The VPS35 gene and Parkinson's disease. Movement Disorders 28(5): 569-575, 2014

VPS35: A new player in Parkinson's disease. Movement Disorders 26(10): 1803-1803, 2011

Deciphering the role of VPS35 in Parkinson's disease. Journal of Neuroscience Research: -, 2018

VPS35, the Retromer Complex and Parkinson's Disease. Journal of Parkinson's Disease 7(2): 219-233, 2017

Linking the VPS35 and EIF4G1 pathways in Parkinson's disease. Neuron 85(1): 1-3, 2015

Role of the VPS35 D620N mutation in Parkinson's disease. Parkinsonism & Related Disorders 36: 10-18, 2016