Varaico: Literature-Extracted Genetic Variants

Gene:VPS35
Variant:p.R524W
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VPS35

NM_018206.6:p.R524W

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

The crucial role of VPS35 and SHH in Parkinson's disease: Understanding the mechanisms behind the neurodegenerative disorder.

Bhardwaj K et al.

Brain Research, 2024

Exploring the triad: VPS35, neurogenesis, and neurodegenerative diseases.

Qiu Z et al.

Journal of Neurochemistry, 2024

Mutant mice with rod-specific VPS35 deletion exhibit retinal α-synuclein pathology-associated degeneration.

Fu C et al.

Nature Communications, 2024

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

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

De novo macrocyclic peptides for inhibiting, stabilizing, and probing the function of the retromer endosomal trafficking complex.

Chen KE et al.

Science Advances, 2021

34851660 (PubMed )
Supplement: sciadv.abg4007_sm.pdf

Genetic disruption of WASHC4 drives endo-lysosomal dysfunction and cognitive-movement impairments in mice and humans.

Courtland JL et al.

Elife, 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

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

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Fragoza R et al.

Nature Communications, 2019

31515488 (PubMed )
Supplement: 41467_2019_11959_MOESM8_ESM.xlsx › SD4_-_HGMD_Mutations

Endosomal sorting and trafficking, the retromer complex and neurodegeneration.

Vagnozzi AN et al.

Molecular Psychiatry, 2019

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

The functional roles of retromer in Parkinson's disease.

Cui Y et al.

Febs Letters, 2018

Genetics of Parkinson disease.

Domingo A et al.

Handbook of Clinical Neurology, 2018

The Retromer Complex and Sorting Nexins in Neurodegenerative Diseases.

Zhang H et al.

Frontiers in Aging Neuroscience, 2018

Clinical profiles associated with LRRK2 and GBA mutations in Brazilians with Parkinson's disease.

da Silva CP et al.

Journal of the Neurological Sciences, 2017

Rabs, Membrane Dynamics, and Parkinson's Disease.

Tang BL

Journal of Cellular Physiology, 2017

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

Mohan M et al.

Parkinsonism & Related Disorders, 2017

A conserved retromer sorting motif is essential for mitochondrial DLP1 recycling by VPS35 in Parkinson's disease model.

Wang W et al.

Human Molecular Genetics, 2017

VPS35, the Retromer Complex and Parkinson's Disease.

Williams ET et al.

Journal of Parkinson's Disease, 2017

Autosomal dominant Parkinson's disease: Incidence of mutations in LRRK2, SNCA, VPS35 and GBA genes in Brazil.

Abreu GM et al.

Neuroscience Letters, 2016

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

Parkinson's disease-associated mutant VPS35 causes mitochondrial dysfunction by recycling DLP1 complexes.

Wang W et al.

Nature Medicine, 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

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

Serine phosphorylation and arginine methylation at the crossroads to neurodegeneration.

Basso M et al.

Experimental Neurology, 2015

Parkinson disease: α-synuclein mutational screening and new clinical insight into the p.E46K mutation.

Pimentel MM et al.

Parkinsonism & Related Disorders, 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-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

A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants.

Sharma M et al.

Journal of Medical Genetics, 2012

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

A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease.

Zimprich A 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."