Varaico: Literature-Extracted Genetic Variants

Gene:UCHL1
Variant:p.C220S
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UCHL1

NM_004181.5:p.C220S

Associated Papers

Role of UCHL1 in the pathogenesis of neurodegenerative diseases and brain injury.

Mi Z et al.

Ageing Research Reviews, 2023

A new target for an old DUB: UCH-L1 regulates mitofusin-2 levels, altering mitochondrial morphology, function and calcium uptake.

Cerqueira FM et al.

Redox Biology, 2020

A cysteine near the C-terminus of UCH-L1 is dispensable for catalytic activity but is required to promote AKT phosphorylation, eIF4F assembly, and malignant B-cell survival.

Hussain S et al.

Cell Death Discovery, 2019

Differential effects of UCHL1 modulation on alpha-synuclein in PD-like models of alpha-synucleinopathy.

Cartier AE et al.

Plos One, 2012

Aberrant molecular properties shared by familial Parkinson's disease-associated mutant UCH-L1 and carbonyl-modified UCH-L1.

Kabuta T et al.

Human Molecular Genetics, 2008

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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."