Varaico: Literature-Extracted Genetic Variants

Gene:VPS35
Variant:p.M57I
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VPS35

NM_018206.6:p.M57I

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

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

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

Luo AD et al.

Ibrain, 2021

Mechanism underlying the regulation of sortilin expression and its trafficking function.

Ouyang S et al.

Journal of Cellular Physiology, 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

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

Hernandez DG et al.

Journal of Neurochemistry, 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

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."