Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.T240R
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PRKN

NM_004562.3:p.T240R

Associated Papers

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

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

Xiao S et al.

Oncogene, 2025

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

Glutathione S-transferase: A keystone in Parkinson's disease pathogenesis and therapy.

Padhan P et al.

Molecular and Cellular Neurosciences, 2025

SFXN2 contributes mitochondrial dysfunction-induced apoptosis as a substrate of Parkin.

Luo S et al.

Frontiers in Cellular Neuroscience, 2025

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

Safreena N et al.

Biochemical Pharmacology, 2024

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

Ma Q et al.

Embo Reports, 2023

Two Different PRKN Compound Heterozygous Variants Combinations in the Same Family.

Biehler M et al.

Movement Disorders Clinical Practice, 2023

Parkin regulates neuronal lipid homeostasis through SREBP2-lipoprotein lipase pathway-implications for Parkinson's disease.

Tang W et al.

Human Molecular Genetics, 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

Human Induced Pluripotent Stem Cell Phenotyping and Preclinical Modeling of Familial Parkinson's Disease.

Kim J et al.

Genes, 2022

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

Sauvé V et al.

The Embo Journal, 2022

The Role of NEDD4 E3 Ubiquitin-Protein Ligases in Parkinson's Disease.

Conway JA et al.

Genes, 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

Animal Models of Autosomal Recessive Parkinsonism.

Bastioli G et al.

Biomedicines, 2021

Early Dysfunction of Substantia Nigra Dopamine Neurons in the ParkinQ311X Mouse.

Regoni M et al.

Biomedicines, 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

Mitochondrial CHCHD2: Disease-Associated Mutations, Physiological Functions, and Current Animal Models.

Kee TR et al.

Frontiers in Aging Neuroscience, 2021

Pluripotent Stem Cell Derived Neurons as In Vitro Models for Studying Autosomal Recessive Parkinson's Disease (ARPD): PLA2G6 and Other Gene Loci.

Gopurappilly R

Advances in Experimental Medicine and Biology, 2021

PINK1/PARKIN signalling in neurodegeneration and neuroinflammation.

Quinn PMJ et al.

Acta Neuropathologica Communications, 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

Chaperones and Proteostasis: Role in Parkinson's Disease.

Joshi N et al.

Diseases (basel, Switzerland), 2020

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

Ryan TA et al.

The Embo Journal, 2020

Unraveling correlative roles of dopamine transporter (DAT) and Parkin in Parkinson's disease (PD) - A road to discovery?

Jayaramayya K et al.

Brain Research Bulletin, 2020

Degradation of engulfed mitochondria is rate-limiting in Optineurin-mediated mitophagy in neurons.

Evans CS et al.

Elife, 2020

Genetic predispositions of Parkinson's disease revealed in patient-derived brain cells.

Tran J et al.

Npj Parkinson's Disease, 2020

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

Genetically engineered animal models of Parkinson's disease: From worm to rodent.

Breger LS et al.

The European Journal of Neuroscience, 2019

Miro proteins prime mitochondria for Parkin translocation and mitophagy.

Safiulina D et al.

The Embo Journal, 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

Novel Compound Heterozygous PRKN Variants in a Han-Chinese Family with Early-Onset Parkinson's Disease.

Fan K et al.

Parkinson's Disease, 2019

High-frequency actionable pathogenic exome variants in an average-risk cohort.

Rego S et al.

Cold Spring Harbor Molecular Case Studies, 2018

30487145 (PubMed )
Supplement: supp_mcs.a003178_Supplemental_File_1.xlsx › Sheet1

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

Williams ET et al.

Human Molecular Genetics, 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

A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.

George AJ et al.

Frontiers in Genetics, 2018

Linking Glycation and Glycosylation With Inflammation and Mitochondrial Dysfunction in Parkinson's Disease.

Videira PAQ et al.

Frontiers in Neuroscience, 2018

Sorafenib targets the mitochondrial electron transport chain complexes and ATP synthase to activate the PINK1-Parkin pathway and modulate cellular drug response.

Zhang C et al.

The Journal of Biological Chemistry, 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."