Varaico: Literature-Extracted Genetic Variants

Gene:RING1
Variant:p.L97V
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RING1

NM_002931.4:p.L97V

Associated Papers

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

Yi W et al.

Human Molecular Genetics, 2019

Alterations in the E3 ligases Parkin and CHIP result in unique metabolic signaling defects and mitochondrial quality control issues.

Lizama BN et al.

Neurochemistry International, 2018

Impact of altered phosphorylation on loss of function of juvenile Parkinsonism-associated genetic variants of the E3 ligase parkin.

Aguirre JD et al.

The Journal of Biological Chemistry, 2018

Structure of the human Parkin ligase domain in an autoinhibited state.

Wauer T et al.

The Embo Journal, 2013

23727886 (PubMed )
Supplement: emboj2013125s1.pdf

PINK1 drives Parkin self-association and HECT-like E3 activity upstream of mitochondrial binding.

Lazarou M et al.

The Journal of Cell Biology, 2013

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

How does parkin ligate ubiquitin to Parkinson's disease?

Kahle PJ et al.

Embo Reports, 2004

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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."