Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.V224A
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PRKN

NM_004562.3:p.V224A

Associated Papers

Naturally occurring hyperactive variants of human parkin.

Huq TS et al.

Communications Biology, 2024

PRKN-linked familial Parkinson's disease: cellular and molecular mechanisms of disease-linked variants.

Clausen L et al.

Cellular and Molecular Life Sciences : Cmls, 2024

The Ubiquitin Proteasome System as a Therapeutic Area in Parkinson's Disease.

Suresh K et al.

Neuromolecular Medicine, 2023

Structure-based design and characterization of Parkin-activating mutations.

Stevens MU et al.

Life Science Alliance, 2023

Mitochondrial quality control in health and in Parkinson's disease.

Eldeeb MA et al.

Physiological Reviews, 2022

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

Yi W et al.

Human Molecular Genetics, 2019

SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation.

Saifi GM et al.

Human Mutation, 2005

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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."