Varaico: Literature-Extracted Genetic Variants

Gene:PARK7
Variant:p.K63R
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PARK7

NM_007262.5:p.K63R

Associated Papers

Impact of Single Amino Acid Substitutions in Parkinsonism-Associated Deglycase-PARK7 and Their Association with Parkinson's Disease.

Anjum F et al.

Journal of Personalized Medicine, 2022

35207708 (PubMed )
Supplement: jpm-12-00220-s001.zip › jpm-1518127-supplementary.pdf

Mechanisms of PINK1, ubiquitin and Parkin interactions in mitochondrial quality control and beyond.

Bayne AN et al.

Cellular and Molecular Life Sciences : Cmls, 2019

TRAF6 promotes atypical ubiquitination of mutant DJ-1 and alpha-synuclein and is localized to Lewy bodies in sporadic Parkinson's disease brains.

Zucchelli S et al.

Human Molecular Genetics, 2010

Parkin-mediated K63-linked polyubiquitination targets misfolded DJ-1 to aggresomes via binding to HDAC6.

Olzmann JA et al.

The Journal of Cell Biology, 2007

Proper SUMO-1 conjugation is essential to DJ-1 to exert its full activities.

Shinbo Y et al.

Cell Death and Differentiation, 2006

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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."