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

Structural Organization of the Retriever-CCC Endosomal Recycling Complex.

Boesch DJ et al.

Biorxiv : the Preprint Server for Biology, 2023

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

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

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."