Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.T415N
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PRKN

NM_004562.3:p.T415N

Associated Papers

UBA5 deficiency disrupts mitochondrial autophagy via the PINK1-parkin pathway and impairs myoblast proliferation.

Shi H et al.

Biological Research, 2026

Cis or trans: a puzzle of Parkin activation mechanism.

Sherawat M et al.

Essays in Biochemistry, 2026

Expanding the utility of variant effect predictions with phenotype-specific models.

Stein D et al.

Nature Communications, 2025

Computational association in parkinson's disease SNPs with brain structural and functional alterations.

Subramaniyan S et al.

Neurogenetics, 2025

Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.

Zech M et al.

Brain : a Journal of Neurology, 2025

39937650 (PubMed )
Supplement: awaf059_supplementary_data.zip › brain-2024-02450-File011.pdf

The Global Landscape of Genetic Variation in Parkinson's disease: Multi-Ancestry Insights into Established Disease Genes and their Translational Relevance.

Lange LM et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40672482 (PubMed )
Supplement: media-1.pdf

Population-Specific Differences in Pathogenic Variants of Genes Associated with Monogenic Parkinson's Disease.

Flores-Ocampo V et al.

Genes, 2025

40282414 (PubMed )
Supplement: genes-16-00454-s001.zip › Supplementary_Tables.xlsx › ST2

Targeting mitophagy in neurodegenerative diseases.

Antico O et al.

Nature Reviews. Drug Discovery, 2025

Structural basis for the pathogenicity of parkin catalytic domain mutants.

Wagner JP et al.

The Journal of Biological Chemistry, 2025

VDAC1: A Key Player in the Mitochondrial Landscape of Neurodegeneration.

Argueti-Ostrovsky S et al.

Biomolecules, 2024

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

Lenka DR et al.

Elife, 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

Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson's disease study.

Westenberger A et al.

Brain : a Journal of Neurology, 2024

39087914 (PubMed )
Supplement: awae188_supplementary_data.zip › awae188_Supplementary_Table_6.f..xlsx › Sheet1

PRKN-linked familial Parkinson's disease: cellular and molecular mechanisms of disease-linked variants.

Clausen L et al.

Cellular and Molecular Life Sciences : Cmls, 2024

Genotype-phenotype correlation in PRKN-associated Parkinson's disease.

Menon PJ et al.

Npj Parkinson's Disease, 2024

38553467 (PubMed )
Supplement: 41531_2024_677_MOESM1_ESM.pdf

A mutational atlas for Parkin proteostasis.

Clausen L et al.

Nature Communications, 2024

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

Trempe JF et al.

Journal of Molecular Biology, 2023

The Role of Rab Proteins in Mitophagy: Insights into Neurodegenerative Diseases.

Shafique A et al.

International Journal of Molecular Sciences, 2023

Heterozygous PRKN mutations are common but do not increase the risk of Parkinson's disease.

Zhu W et al.

Brain : a Journal of Neurology, 2022

Increased Stroke Risk in Patients with Parkinson's Disease with LRRK2 Mutations.

Macías-García D et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2022

34859503 (PubMed )
Supplement: supplement_1.docx

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

Identification of sixteen novel candidate genes for late onset Parkinson's disease.

Gialluisi A et al.

Molecular Neurodegeneration, 2021

34148545 (PubMed )
Supplement: 13024_2021_455_MOESM1_ESM.pdf

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

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

Kamienieva I et al.

Translational Neurodegeneration, 2021

Dysfunction of Synaptic Vesicle Endocytosis in Parkinson's Disease.

Zou L et al.

Frontiers in Integrative Neuroscience, 2021

PARK Genes Link Mitochondrial Dysfunction and Alpha-Synuclein Pathology in Sporadic Parkinson's Disease.

Li W et al.

Frontiers in Cell and Developmental Biology, 2021

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

Mdm2 enhances ligase activity of parkin and facilitates mitophagy.

Kook S et al.

Scientific Reports, 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

Mitochondrial E3 Ubiquitin Ligase Parkin: Relationships with Other Causal Proteins in Familial Parkinson's Disease and Its Substrate-Involved Mouse Experimental Models.

Torii S et al.

International Journal of Molecular Sciences, 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

Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Capalbo A et al.

Plos Genetics, 2019

31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants

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

Yi W et al.

Human Molecular Genetics, 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

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

The M458L missense mutation disrupts the catalytic properties of Parkin.

Do YJ et al.

Febs Letters, 2018

The Effects of Variants in the Parkin, PINK1, and DJ-1 Genes along with Evidence for their Pathogenicity.

Hauser DN et al.

Current Protein & Peptide Science, 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

Genomic mechanisms underlying PARK2 large deletions identified in a cohort of patients with PD.

Morais S et al.

Neurology. Genetics, 2016

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

Pao KC et al.

Nature Chemical Biology, 2016

Loss of parkin promotes lipid rafts-dependent endocytosis through accumulating caveolin-1: implications for Parkinson's disease.

Cha SH et al.

Molecular Neurodegeneration, 2015

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

Fiesel FC et al.

Human Mutation, 2015

Parkin structure and function.

Seirafi M et al.

The Febs Journal, 2015

Convergence of Parkin, PINK1, and α-Synuclein on Stress-induced Mitochondrial Morphological Remodeling.

Norris KL et al.

The Journal of Biological Chemistry, 2015

Parkin-mediated K63-polyubiquitination targets ubiquitin C-terminal hydrolase L1 for degradation by the autophagy-lysosome system.

McKeon JE et al.

Cellular and Molecular Life Sciences : Cmls, 2015

Mendelian genes for Parkinson's disease contribute to the sporadic forms of the disease.

Spataro N et al.

Human Molecular Genetics, 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."