Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.P153R
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PRKN

NM_004562.3:p.P153R

Associated Papers

Cis or trans: a puzzle of Parkin activation mechanism.

Sherawat M et al.

Essays in Biochemistry, 2026

A mutational atlas for Parkin proteostasis.

Clausen L et al.

Nature Communications, 2024

38378758 (PubMed )
Supplement: 41467_2024_45829_MOESM1_ESM.pdf

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

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

Gene Panel Sequencing Identifies Novel Pathogenic Mutations in Moroccan Patients with Familial Parkinson Disease.

Smaili I et al.

Journal of Molecular Neuroscience : Mn, 2021

Clinical and Genetic Analysis of Costa Rican Patients With Parkinson's Disease.

Torrealba-Acosta G et al.

Frontiers in Neurology, 2021

34421783 (PubMed )
Supplement: Data_Sheet_1.ZIP › Supplementary_Tables_Costa_Rica_updated.xlsx › Suppl_Table_3_Common_Variants

Deep brain stimulation for monogenic Parkinson's disease: a systematic review.

Kuusimäki T et al.

Journal of Neurology, 2020

Targeted next-generation sequencing identifies novel variants in candidate genes for Parkinson's disease in Black South African and Nigerian patients.

Oluwole OG et al.

Bmc Medical Genetics, 2020

32019516 (PubMed )
Supplement: 12881_2020_953_MOESM8_ESM.xlsx › Variants_identified_in_PD_genes

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

Yi W et al.

Human Molecular Genetics, 2019

Genetic background and outcome of Deep Brain Stimulation in Parkinson's disease.

Rizzone MG et al.

Parkinsonism & Related Disorders, 2019

PARKIN Inactivation Links Parkinson's Disease to Melanoma.

Hu HH et al.

Journal of the National Cancer Institute, 2016

Greater improvement in LRRK2 G2019S patients undergoing Subthalamic Nucleus Deep Brain Stimulation compared to non-mutation carriers.

Sayad M et al.

Bmc Neuroscience, 2016

Genetic insights into sporadic Parkinson's disease pathogenesis.

Chai C et al.

Current Genomics, 2013

Structure of the human Parkin ligase domain in an autoinhibited state.

Wauer T et al.

The Embo Journal, 2013

Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update.

Nuytemans K et al.

Human Mutation, 2010

20506312 (PubMed )
Supplement: humu0031-0763-SD1.pdf

Predictors of parkin mutations in early-onset Parkinson disease: the consortium on risk for early-onset Parkinson disease study.

Marder KS et al.

Archives of Neurology, 2010

Familial Parkinsonism and early onset Parkinson's disease in a Brazilian movement disorders clinic: phenotypic characterization and frequency of SNCA, PRKN, PINK1, and LRRK2 mutations.

Camargos ST et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2009

PINK1 mutations and parkinsonism.

Ishihara-Paul L et al.

Neurology, 2008

Risk of Parkinson disease in carriers of parkin mutations: estimation using the kin-cohort method.

Wang Y et al.

Archives of Neurology, 2008

Analysis of Nigerians with apparently sporadic Parkinson disease for mutations in LRRK2, PRKN and ATXN3.

Okubadejo N et al.

Plos One, 2008

Construction and validation of a Parkinson's disease mutation genotyping array for the Parkin gene.

Clark LN et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2007

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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."