Varaico: Literature-Extracted Genetic Variants

Gene:VPS35
Variant:p.P316S
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VPS35

NM_018206.6:p.P316S

Associated Papers

An update on the monogenic causes of Parkinson's disease: Impact on patient stratification and personalised medicine.

Asmi S et al.

Ageing Research Reviews, 2026

VPS35 and retromer dysfunction in Parkinson's disease.

Rowlands J et al.

Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2024

VPS35 and α-Synuclein fail to interact to modulate neurodegeneration in rodent models of Parkinson's disease.

Chen X et al.

Molecular Neurodegeneration, 2023

Genetic Evidence for Endolysosomal Dysfunction in Parkinson's Disease: A Critical Overview.

Yahya V et al.

International Journal of Molecular Sciences, 2023

Understanding the contributions of VPS35 and the retromer in neurodegenerative disease.

Williams ET et al.

Neurobiology of Disease, 2022

Beware of Misdelivery: Multifaceted Role of Retromer Transport in Neurodegenerative Diseases.

Yoshida S et al.

Frontiers in Aging Neuroscience, 2022

Retromer dependent changes in cellular homeostasis and Parkinson's disease.

Yang Z et al.

Essays in Biochemistry, 2021

Parkinson's Disease Causative Mutation in Vps35 Disturbs Tetherin Trafficking to Cell Surfaces and Facilitates Virus Spread.

Ding Y et al.

Cells, 2021

The Role of VPS35 in the Pathobiology of Parkinson's Disease.

Sassone J et al.

Cellular and Molecular Neurobiology, 2021

An update on cellular and molecular determinants of Parkinson's disease with emphasis on the role of the retromer complex.

Macías-Calvio V et al.

Journal of Neuroscience Research, 2021

Targeting of Lysosomal Pathway Genes for Parkinson's Disease Modification: Insights From Cellular and Animal Models.

Abe T et al.

Frontiers in Neurology, 2021

Mechanisms of VPS35-Mediated Neurodegeneration in Parkinson's Disease.

Sargent D et al.

International Review of Movement Disorders, 2021

VPS35, the core component of the retromer complex, and Parkinson's disease.

Luo AD et al.

Ibrain, 2021

Rare VPS35 A320V Variant in Taiwanese Parkinson's Disease Indicates Disrupted CI-MPR Sorting and Impaired Mitochondrial Morphology.

Wu YR et al.

Brain Sciences, 2020

Endosomal dysfunction in iPSC-derived neural cells from Parkinson's disease patients with VPS35 D620N.

Bono K et al.

Molecular Brain, 2020

The vicious cycle between α-synuclein aggregation and autophagic-lysosomal dysfunction.

Bellomo G et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2020

Modeling Parkinson's Disease Using Induced Pluripotent Stem Cells.

Hu X et al.

Stem Cells International, 2020

Parkinson's disease-linked D620N VPS35 knockin mice manifest tau neuropathology and dopaminergic neurodegeneration.

Chen X et al.

Proceedings of the National Academy of Sciences of the United States of America, 2019

Contributions of VPS35 Mutations to Parkinson's Disease.

Rahman AA et al.

Neuroscience, 2019

VPS35-Based Approach: A Potential Innovative Treatment in Parkinson's Disease.

Eleuteri S et al.

Frontiers in Neurology, 2019

Parkin mediates the ubiquitination of VPS35 and modulates retromer-dependent endosomal sorting.

Williams ET et al.

Human Molecular Genetics, 2018

The functional roles of retromer in Parkinson's disease.

Cui Y et al.

Febs Letters, 2018

Cellular and Molecular Basis of Neurodegeneration in Parkinson Disease.

Zeng XS et al.

Frontiers in Aging Neuroscience, 2018

Role of the VPS35 D620N mutation in Parkinson's disease.

Mohan M et al.

Parkinsonism & Related Disorders, 2017

VPS35, the Retromer Complex and Parkinson's Disease.

Williams ET et al.

Journal of Parkinson's Disease, 2017

Genetics in Parkinson disease: Mendelian versus non-Mendelian inheritance.

Hernandez DG et al.

Journal of Neurochemistry, 2016

Parkinson Disease-linked Vps35 R524W Mutation Impairs the Endosomal Association of Retromer and Induces α-Synuclein Aggregation.

Follett J et al.

The Journal of Biological Chemistry, 2016

Launching the movement disorders society genetic mutation database (MDSGene).

Lill CM et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2016

Vacuolar Protein Sorting Genes in Parkinson's Disease: A Re-appraisal of Mutations Detection Rate and Neurobiology of Disease.

Gambardella S et al.

Frontiers in Neuroscience, 2016

Flies with Parkinson's disease.

Vanhauwaert R et al.

Experimental Neurology, 2015

VPS35 pathogenic mutations confer no dominant toxicity but partial loss of function in Drosophila and genetically interact with parkin.

Malik BR et al.

Human Molecular Genetics, 2015

VPS35 Deficiency or Mutation Causes Dopaminergic Neuronal Loss by Impairing Mitochondrial Fusion and Function.

Tang FL et al.

Cell Reports, 2015

The genetics of Parkinson's disease.

Mullin S et al.

British Medical Bulletin, 2015

The role of the retromer complex in aging-related neurodegeneration: a molecular and genomic review.

Reitz C

Molecular Genetics and Genomics : Mgg, 2015

Parkinson's disease genes VPS35 and EIF4G1 interact genetically and converge on α-synuclein.

Dhungel N et al.

Neuron, 2015

Application of next-generation sequencing technologies in Neurology.

Jiang T et al.

Annals of Translational Medicine, 2014

VPS35 dysfunction impairs lysosomal degradation of α-synuclein and exacerbates neurotoxicity in a Drosophila model of Parkinson's disease.

Miura E et al.

Neurobiology of Disease, 2014

In vivo evidence of pathogenicity of VPS35 mutations in the Drosophila.

Wang HS et al.

Molecular Brain, 2014

Parkinson's disease-linked mutations in VPS35 induce dopaminergic neurodegeneration.

Tsika E et al.

Human Molecular Genetics, 2014

Update on novel familial forms of Parkinson's disease and multiple system atrophy.

Fujioka S et al.

Parkinsonism & Related Disorders, 2014

The VPS35 gene and Parkinson's disease.

Deng H et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2013

Monogenic Parkinson's disease and parkinsonism: clinical phenotypes and frequencies of known mutations.

Puschmann A

Parkinsonism & Related Disorders, 2013

Whole exome sequencing of rare variants in EIF4G1 and VPS35 in Parkinson disease.

Nuytemans K et al.

Neurology, 2013

VPS35 mutation in Japanese patients with typical Parkinson's disease.

Ando M et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2012

VPS35 mutation in Chinese Han patients with late-onset Parkinson's disease.

Deng H et al.

European Journal of Neurology, 2012

VPS35 mutations in Parkinson disease.

Vilariño-Güell C et al.

American Journal of Human Genetics, 2011

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."