Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.K161N
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PRKN

NM_004562.3:p.K161N

Associated Papers

Cis or trans: a puzzle of Parkin activation mechanism.

Sherawat M et al.

Essays in Biochemistry, 2026

The Juvenile Parkinson's Disease Mutation C212Y Impairs Mitochondrial Homeostasis in a Caenorhabditis elegans Model.

Spector E et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2025

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

Subramaniyan S et al.

Neurogenetics, 2025

Targeting mitophagy in neurodegenerative diseases.

Antico O et al.

Nature Reviews. Drug Discovery, 2025

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

Safreena N et al.

Biochemical Pharmacology, 2024

Activation of parkin by a molecular glue.

Sauvé V et al.

Nature Communications, 2024

Naturally occurring hyperactive variants of human parkin.

Huq TS et al.

Communications Biology, 2024

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

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

A mutational atlas for Parkin proteostasis.

Clausen L et al.

Nature Communications, 2024

Intracellular delivery of Parkin-RING0-based fragments corrects Parkin-induced mitochondrial dysfunction through interaction with SLP-2.

Zanon A et al.

Journal of Translational Medicine, 2024

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

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

Eldeeb MA et al.

Physiological Reviews, 2022

Therapeutic targeting of mitophagy in Parkinson's disease.

Masaldan S et al.

Biochemical Society Transactions, 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

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

Hung CM et al.

Science Advances, 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

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

Kamienieva I et al.

Translational Neurodegeneration, 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

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

Capturing variation impact on molecular interactions in the IMEx Consortium mutations data set.

Del-Toro N et al.

Nature Communications, 2019

30602777 (PubMed )
Supplement: 41467_2018_7709_MOESM6_ESM.xlsx › Supplementary_data_3

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

Mechanism of parkin activation by phosphorylation.

Sauvé V et al.

Nature Structural & Molecular Biology, 2018

Mechanism of parkin activation by PINK1.

Gladkova C et al.

Nature, 2018

Building and decoding ubiquitin chains for mitophagy.

Harper JW et al.

Nature Reviews. Molecular Cell Biology, 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

29491882 (PubMed )
Supplement: Table1.xlsx › Sheet1

The Transcription Factor Function of Parkin: Breaking the Dogma.

Alves da Costa C et al.

Frontiers in Neuroscience, 2018

Twenty years since the discovery of the parkin gene.

Hattori N et al.

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

Dual Function of Phosphoubiquitin in E3 Activation of Parkin.

Walinda E et al.

The Journal of Biological Chemistry, 2016

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

Pao KC et al.

Nature Chemical Biology, 2016

The ubiquitin signal and autophagy: an orchestrated dance leading to mitochondrial degradation.

Yamano K et al.

Embo Reports, 2016

Parkin maintains mitochondrial levels of the protective Parkinson's disease-related enzyme 17-β hydroxysteroid dehydrogenase type 10.

Bertolin G et al.

Cell Death and Differentiation, 2015

Mechanism of phospho-ubiquitin-induced PARKIN activation.

Wauer T et al.

Nature, 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

The mitochondrial protein BNIP3L is the substrate of PARK2 and mediates mitophagy in PINK1/PARK2 pathway.

Gao F et al.

Human Molecular Genetics, 2015

Activation of the E3 ubiquitin ligase Parkin.

Caulfield TR et al.

Biochemical Society Transactions, 2015

Quantitative proteomics reveal a feedforward mechanism for mitochondrial PARKIN translocation and ubiquitin chain synthesis.

Ordureau A et al.

Molecular Cell, 2014

The mitochondrial deubiquitinase USP30 opposes parkin-mediated mitophagy.

Bingol B et al.

Nature, 2014

BECN1 is involved in the initiation of mitophagy: it facilitates PARK2 translocation to mitochondria.

Choubey V et al.

Autophagy, 2014

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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."