Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.W437G
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PINK1

NM_032409.3:p.W437G

Associated Papers

DJ-1 is an essential downstream mediator in PINK1/parkin-dependent mitophagy.

Imberechts D et al.

Brain : a Journal of Neurology, 2022

LRRK2 mutations impair depolarization-induced mitophagy through inhibition of mitochondrial accumulation of RAB10.

Wauters F et al.

Autophagy, 2020

The deubiquitinase USP15 antagonizes Parkin-mediated mitochondrial ubiquitination and mitophagy.

Cornelissen T et al.

Human Molecular Genetics, 2014

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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."