Varaico: Literature-Extracted Genetic Variants

Gene:VPS35
Variant:p.L774M
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VPS35

NM_018206.6:p.L774M

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

Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson's disease study.

Westenberger A et al.

Brain : a Journal of Neurology, 2024

39087914 (PubMed )
Supplement: awae188_supplementary_data.zip › awae188_Supplementary_Table_6.f..xlsx › Sheet1

Understanding monogenic Parkinson's disease at a global scale.

Junker J et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

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

Yahya V et al.

International Journal of Molecular Sciences, 2023

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

Sassone J et al.

Cellular and Molecular Neurobiology, 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

Contributions of VPS35 Mutations to Parkinson's Disease.

Rahman AA et al.

Neuroscience, 2019

Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease.

Nicolas G et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2018

30114415 (PubMed )
Supplement: EMS83060-supplement-Supplementary_Tables_S1_S10.xlsx › Table_S7_VPS35-MARK4_NS_1_

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

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

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

Wang HS et al.

Molecular Brain, 2014

VPS35 Parkinson's disease phenotype resembles the sporadic disease.

Struhal W et al.

Journal of Neural Transmission (vienna, Austria : 1996), 2014

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

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."