Varaico: Literature-Extracted Genetic Variants

Gene:UBA52
Variant:p.R42P
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UBA52

NM_001033930.3:p.R42P

Associated Papers

In search for mitochondrial biomarkers of Parkinson's disease: Findings in parkin-mutant human fibroblasts.

Kamienieva I et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2023

Multitasking guardian of mitochondrial quality: Parkin function and Parkinson's disease.

Kamienieva I et al.

Translational Neurodegeneration, 2021

The landscape of Parkin variants reveals pathogenic mechanisms and therapeutic targets in Parkinson's disease.

Yi W et al.

Human Molecular Genetics, 2019

The endoplasmic reticulum-mitochondria interface is perturbed in PARK2 knockout mice and patients with PARK2 mutations.

Gautier CA et al.

Human Molecular Genetics, 2016

Olfaction in Parkin heterozygotes and compound heterozygotes: the CORE-PD study.

Alcalay RN et al.

Neurology, 2011

Predictors of parkin mutations in early-onset Parkinson disease: the consortium on risk for early-onset Parkinson disease study.

Marder KS et al.

Archives of Neurology, 2010

Biochemical analysis of Parkinson's disease-causing variants of Parkin, an E3 ubiquitin-protein ligase with monoubiquitylation capacity.

Hampe C et al.

Human Molecular Genetics, 2006

Familial-associated mutations differentially disrupt the solubility, localization, binding and ubiquitination properties of parkin.

Sriram SR et al.

Human Molecular Genetics, 2005

Novel parkin mutations detected in patients with early-onset Parkinson's disease.

Bertoli-Avella AM et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2005

Crystal structure and molecular dynamics simulation of ubiquitin-like domain of murine parkin.

Tomoo K et al.

Biochimica Et Biophysica Acta, 0

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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."