Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.K211R
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PRKN

NM_004562.3:p.K211R

Associated Papers

Pathogenesis of Parkinson's disease: from hints from monogenic familial PD to biomarkers.

Hattori N et al.

Journal of Neural Transmission (vienna, Austria : 1996), 2024

MITOL promotes cell survival by degrading Parkin during mitophagy.

Shiiba I et al.

Embo Reports, 2021

33565245 (PubMed )
Supplement: EMBR-22-e49097-s002.pdf

The AMPK-Parkin axis negatively regulates necroptosis and tumorigenesis by inhibiting the necrosome.

Lee SB et al.

Nature Cell Biology, 2019

Bioenergetics and Autophagic Imbalance in Patients-Derived Cell Models of Parkinson Disease Supports Systemic Dysfunction in Neurodegeneration.

González-Casacuberta I et al.

Frontiers in Neuroscience, 2019

Synergistic recruitment of UbcH7~Ub and phosphorylated Ubl domain triggers parkin activation.

Condos TE et al.

The Embo Journal, 2018

Twenty years since the discovery of the parkin gene.

Hattori N et al.

Journal of Neural Transmission (vienna, Austria : 1996), 2017

Genetic insights into sporadic Parkinson's disease pathogenesis.

Chai C et al.

Current Genomics, 2013

Mutations in PRKN and SNCA Genes Important for the Progress of Parkinson's Disease.

Oczkowska A et al.

Current Genomics, 2013

Neddylation positively regulates the ubiquitin E3 ligase activity of parkin.

Um JW et al.

Journal of Neuroscience Research, 2012

Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update.

Nuytemans K et al.

Human Mutation, 2010

20506312 (PubMed )
Supplement: humu0031-0763-SD1.pdf

Identification of a novel Zn2+-binding domain in the autosomal recessive juvenile Parkinson-related E3 ligase parkin.

Hristova VA et al.

The Journal of Biological Chemistry, 2009

Parkin genetics: one model for Parkinson's disease.

Mata IF et al.

Human Molecular Genetics, 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."