Varaico: Literature-Extracted Genetic Variants

Gene:USP30
Variant:p.C77S
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USP30

NM_032663.5:p.C77S

Associated Papers

USP30-mediated Deubiquitination of Hexokinase 2 controls the metabolic fate of glucose and tumor progression.

Haowei Z et al.

Cell Death & Disease, 2026

mTORC1-USP30-LEF1 Cascade Regulates Cancer Stemness and Malignant Progression Through Mitonuclear Crosstalk.

Li X et al.

Medcomm, 2025

Investigation of USP30 inhibition to enhance Parkin-mediated mitophagy: tools and approaches.

Tsefou E et al.

The Biochemical Journal, 2021

LRRK2 regulates endoplasmic reticulum-mitochondrial tethering through the PERK-mediated ubiquitination pathway.

Toyofuku T et al.

The Embo Journal, 2020

Deubiquitinating enzyme USP30 maintains basal peroxisome abundance by regulating pexophagy.

Riccio V et al.

The Journal of Cell Biology, 2019

Structural basis for specific cleavage of Lys6-linked polyubiquitin chains by USP30.

Sato Y et al.

Nature Structural & Molecular Biology, 2017

USP30 and parkin homeostatically regulate atypical ubiquitin chains on mitochondria.

Cunningham CN et al.

Nature Cell Biology, 2015

The mitochondrial deubiquitinase USP30 opposes parkin-mediated mitophagy.

Bingol B et al.

Nature, 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."