Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.C431F
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PRKN

NM_004562.3:p.C431F

Associated Papers

p62/SQSTM1 Condensation Modulates Mitochondrial Clustering to Participate in Mitochondrial Quality Control.

Sun S et al.

Aging Cell, 2026

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

Basilone NT et al.

Biochemical Society Transactions, 2025

Targeting mitophagy in neurodegenerative diseases.

Antico O et al.

Nature Reviews. Drug Discovery, 2025

Activation of parkin by a molecular glue.

Sauvé V et al.

Nature Communications, 2024

Additional feedforward mechanism of Parkin activation via binding of phospho-UBL and RING0 in trans.

Lenka DR et al.

Elife, 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

Parkinson's disease-linked parkin mutation disrupts recycling of synaptic vesicles in human dopaminergic neurons.

Song P et al.

Neuron, 2023

UBQLN2 and HSP70 participate in Parkin-mediated mitophagy by facilitating outer mitochondrial membrane rupture.

Ma Q et al.

Embo Reports, 2023

Structural Mechanisms of Mitochondrial Quality Control Mediated by PINK1 and Parkin.

Trempe JF et al.

Journal of Molecular Biology, 2023

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

Stevens MU et al.

Life Science Alliance, 2023

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

Luo S et al.

Frontiers in Molecular Neuroscience, 2023

The interaction between E3 ubiquitin ligase Parkin and mitophagy receptor PHB2 links inner mitochondrial membrane ubiquitination to efficient mitophagy.

Sun S et al.

The Journal of Biological Chemistry, 2022

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

Eldeeb MA et al.

Physiological Reviews, 2022

ConVarT: a search engine for matching human genetic variants with variants from non-human species.

Pir MS et al.

Nucleic Acids Research, 2022

34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S14.xls › human_pat_mouse_unk_orthovar_14

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

Genetic Variations and Neuropathologic Features of Patients with PRKN Mutations.

Seike N et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2021

Age-associated insolubility of parkin in human midbrain is linked to redox balance and sequestration of reactive dopamine metabolites.

Tokarew JM et al.

Acta Neuropathologica, 2021

Assessing the relationship between monoallelic PRKN mutations and Parkinson's risk.

Lubbe SJ et al.

Human Molecular Genetics, 2021

33448283 (PubMed )
Supplement: 2020_12_09_monoallelic_v31_hmg_suppl_data_accepted_ddaa273.docx

The Role of VPS35 in the Pathobiology of Parkinson's Disease.

Sassone J et al.

Cellular and Molecular Neurobiology, 2021

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

Kamienieva I et al.

Translational Neurodegeneration, 2021

Parkinson's: A Disease of Aberrant Vesicle Trafficking.

Singh PK et al.

Annual Review of Cell and Developmental Biology, 2020

Identification of pathogenic missense mutations using protein stability predictors.

Gerasimavicius L et al.

Scientific Reports, 2020

32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › ClinVar

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

Yi W et al.

Human Molecular Genetics, 2019

Neuronal microtubules and proteins linked to Parkinson's disease: a relevant interaction?

Calogero AM et al.

Biological Chemistry, 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

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

McWilliams TG et al.

Open Biology, 2018

Parkin mediates the ubiquitination of VPS35 and modulates retromer-dependent endosomal sorting.

Williams ET et al.

Human Molecular Genetics, 2018

PICK1 inhibits the E3 ubiquitin ligase activity of Parkin and reduces its neuronal protective effect.

He J et al.

Proceedings of the National Academy of Sciences of the United States of America, 2018

The M458L missense mutation disrupts the catalytic properties of Parkin.

Do YJ et al.

Febs Letters, 2018

UbMES and UbFluor: Novel probes for ring-between-ring (RBR) E3 ubiquitin ligase PARKIN.

Park S et al.

The Journal of Biological Chemistry, 2017

Activation mechanisms of the E3 ubiquitin ligase parkin.

Panicker N et al.

The Biochemical Journal, 2017

Polyubiquitination of apurinic/apyrimidinic endonuclease 1 by Parkin.

Scott TL et al.

Molecular Carcinogenesis, 2017

PINK1, Parkin, and Mitochondrial Quality Control: What can we Learn about Parkinson's Disease Pathobiology?

Truban D et al.

Journal of Parkinson's Disease, 2017

Dual Function of Phosphoubiquitin in E3 Activation of Parkin.

Walinda E et al.

The Journal of Biological Chemistry, 2016

Covalent ISG15 conjugation positively regulates the ubiquitin E3 ligase activity of parkin.

Im E et al.

Open Biology, 2016

Probes of ubiquitin E3 ligases enable systematic dissection of parkin activation.

Pao KC et al.

Nature Chemical Biology, 2016

Double homozygous mutations (R275W and M432V) in the ParkinGene associated with late-onset Parkinson's disease.

Carr J et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2016

Parkin promotes proteasomal degradation of p62: implication of selective vulnerability of neuronal cells in the pathogenesis of Parkinson's disease.

Song P et al.

Protein & Cell, 2016

Phosphoproteomic screening identifies Rab GTPases as novel downstream targets of PINK1.

Lai YC et al.

The Embo Journal, 2015

Structural studies of parkin and sacsin: Mitochondrial dynamics in neurodegenerative diseases.

Li X et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2015

Structural and Functional Impact of Parkinson Disease-Associated Mutations in the E3 Ubiquitin Ligase Parkin.

Fiesel FC et al.

Human Mutation, 2015

Binding to serine 65-phosphorylated ubiquitin primes Parkin for optimal PINK1-dependent phosphorylation and activation.

Kazlauskaite A et al.

Embo Reports, 2015

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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."