Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.C431S
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PRKN

NM_004562.3:p.C431S

Associated Papers

Activation of endogenous PRKN by structural derepression is linked to increased turnover of the E3 ubiquitin ligase.

Fiesel FC et al.

Autophagy, 2025

The novel protein SEMA3C-319aa triggers glutathione metabolism-dependent ferroptosis in gastric cancer.

Xiao S et al.

Oncogene, 2025

Canonical and alternate mechanisms that regulate ubiquitylation by the E3 ligase parkin.

Basilone NT et al.

Biochemical Society Transactions, 2025

Phosphorylation of Optineurin by protein kinase D regulates Parkin-dependent mitophagy.

Weil R et al.

Iscience, 2024

Therapeutic potential of Parkin and its regulation in Parkinson's disease.

Safreena N et al.

Biochemical Pharmacology, 2024

Capturing the catalytic intermediates of parkin ubiquitination.

Connelly EM et al.

Proceedings of the National Academy of Sciences of the United States of America, 2024

GRAF1 Acts as a Downstream Mediator of Parkin to Regulate Mitophagy in Cardiomyocytes.

Zhu Q et al.

Cells, 2024

Design and high-throughput implementation of MALDI-TOF/MS-based assays for Parkin E3 ligase activity.

Traynor R et al.

Cell Reports Methods, 2024

GRAF1 integrates PINK1-Parkin signaling and actin dynamics to mediate cardiac mitochondrial homeostasis.

Zhu Q et al.

Nature Communications, 2023

PINK1 and Parkin regulate IP3R-mediated ER calcium release.

Ham SJ et al.

Nature Communications, 2023

37626046 (PubMed )
Supplement: 41467_2023_40929_MOESM1_ESM.pdf

Parkin regulates amino acid homeostasis at mitochondria-lysosome (M/L) contact sites in Parkinson's disease.

Peng W et al.

Science Advances, 2023

Site-specific ubiquitination of VDAC1 restricts its oligomerization and mitochondrial DNA release in liver fibrosis.

Wu NN et al.

Experimental & Molecular Medicine, 2023

Post-translational modification and mitochondrial function in Parkinson's disease.

Luo S et al.

Frontiers in Molecular Neuroscience, 2023

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

Eldeeb MA et al.

Physiological Reviews, 2022

Ubiquitination at the lysine 27 residue of the Parkin ubiquitin-like domain is suggestive of a new mechanism of Parkin activation.

Liu JY et al.

Human Molecular Genetics, 2022

Systematic Functional Analysis of PINK1 and PRKN Coding Variants.

Broadway BJ et al.

Cells, 2022

Neuronal NLRP3 is a parkin substrate that drives neurodegeneration in Parkinson's disease.

Panicker N et al.

Neuron, 2022

Structural basis for feedforward control in the PINK1/Parkin pathway.

Sauvé V et al.

The Embo Journal, 2022

Selective localization of Mfn2 near PINK1 enables its preferential ubiquitination by Parkin on mitochondria.

Vranas M et al.

Open Biology, 2022

Comparative analysis of web-based programs for single amino acid substitutions in proteins.

Choudhury A et al.

Plos One, 2022

35507592 (PubMed )
Supplement: pone.0267084.s001.xlsx › PARK2

BRCA1 degradation in response to mitochondrial damage in breast cancer cells.

Miyahara K et al.

Scientific Reports, 2021

AMPK/ULK1-mediated phosphorylation of Parkin ACT domain mediates an early step in mitophagy.

Hung CM et al.

Science Advances, 2021

MITOL promotes cell survival by degrading Parkin during mitophagy.

Shiiba I et al.

Embo Reports, 2021

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

Kamienieva I et al.

Translational Neurodegeneration, 2021

Tollip coordinates Parkin-dependent trafficking of mitochondrial-derived vesicles.

Ryan TA et al.

The Embo Journal, 2020

Decision between mitophagy and apoptosis by Parkin via VDAC1 ubiquitination.

Ham SJ et al.

Proceedings of the National Academy of Sciences of the United States of America, 2020

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

Bayne AN et al.

Cellular and Molecular Life Sciences : Cmls, 2019

Integrated proteogenetic analysis reveals the landscape of a mitochondrial-autophagosome synapse during PARK2-dependent mitophagy.

Heo JM et al.

Science Advances, 2019

The PINK1 kinase-driven ubiquitin ligase Parkin promotes mitochondrial protein import through the presequence pathway in living cells.

Jacoupy M et al.

Scientific Reports, 2019

31413265 (PubMed )
Supplement: 41598_2019_47352_MOESM1_ESM.pdf

Stress-induced phospho-ubiquitin formation causes parkin degradation.

Kovalchuke L et al.

Scientific Reports, 2019

Insights into ubiquitin chain architecture using Ub-clipping.

Swatek KN et al.

Nature, 2019

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

Condos TE et al.

The Embo Journal, 2018

30446597 (PubMed )
Supplement: EMBJ-37-e100014-s003.pdf

Phosphorylation of Parkin at serine 65 is essential for its activation in vivo.

McWilliams TG et al.

Open Biology, 2018

Parkinson's disease-linked Parkin mutations impair glutamatergic signaling in hippocampal neurons.

Zhu M et al.

Bmc Biology, 2018

Parkin negatively regulates the antiviral signaling pathway by targeting TRAF3 for degradation.

Xin D et al.

The Journal of Biological Chemistry, 2018

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

Myosin VI-Dependent Actin Cages Encapsulate Parkin-Positive Damaged Mitochondria.

Kruppa AJ et al.

Developmental Cell, 2018

Building and decoding ubiquitin chains for mitophagy.

Harper JW et al.

Nature Reviews. Molecular Cell Biology, 2018

Actin cages isolate damaged mitochondria during mitophagy.

Kruppa AJ et al.

Autophagy, 2018

Mitochondrial targeted HSP90 inhibitor Gamitrinib-TPP (G-TPP) induces PINK1/Parkin-dependent mitophagy.

Fiesel FC et al.

Oncotarget, 2017

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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."