Varaico: Literature-Extracted Genetic Variants

Gene:VPS35
Variant:p.L34_D35Splc
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VPS35

NM_018206.6:p.L34_D35Splc

Associated Papers

Retromer stabilization using a pharmacological chaperone protects in an α-synuclein based mouse model of Parkinson's.

Eleuteri S et al.

Research Square, 2023

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

Atypical parkinsonism of progressive supranuclear palsy-parkinsonism (PSP-P) phenotype with rare variants in FBXO7 and VPS35 genes associated with Lewy body pathology.

Menšíková K et al.

Acta Neuropathologica, 2019

Familial atypical parkinsonism with rare variant in VPS35 and FBXO7 genes: A case report.

Bartonikova T et al.

Medicine, 2016

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."