Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.V317I
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PINK1

NM_032409.3:p.V317I

Associated Papers

Targeting mitophagy in neurodegenerative diseases.

Antico O et al.

Nature Reviews. Drug Discovery, 2025

Rethinking 'rare' PINK1 Parkinson's disease: A meta-analysis of geographical prevalence, phenotypic diversity, and α-synuclein pathology.

Yin EP et al.

Journal of Parkinson's Disease, 2025

Clinico-Genetic Profiles of Seven Patients With PINK1-Related Parkinson's Disease: A Case Series From a Tertiary Care Centre in India and a Review of the Literature.

Gunasekaran A et al.

Journal of Movement Disorders, 2024

39294919 (PubMed )
Supplement: jmd-24157-Supplementary-Table-1.pdf

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

Systematic analysis of PINK1 variants of unknown significance shows intact mitophagy function for most variants.

Ma KY et al.

Npj Parkinson's Disease, 2021

A Comprehensive Survey of Genomic Alterations in Gastric Cancer Reveals Recurrent Neoantigens as Potential Therapeutic Targets.

Chen C et al.

Biomed Research International, 2019

31781598 (PubMed )
Supplement: 2183510.f1.zip › 2183510.f1 › Supplementary_Table_S3.xlsx › Supplementary_Table_S2.xlsx

Genotype-Phenotype Relations for the Parkinson's Disease Genes Parkin, PINK1, DJ1: MDSGene Systematic Review.

Kasten M et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2018

Structure of PINK1 in complex with its substrate ubiquitin.

Schubert AF et al.

Nature, 2017

PINK1 and Parkin: emerging themes in mitochondrial homeostasis.

McWilliams TG et al.

Current Opinion in Cell Biology, 2017

Phylogenetic and in silico structural analysis of the Parkinson disease-related kinase PINK1.

Cardona F et al.

Human Mutation, 2011

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

Late onset sporadic Parkinson's disease caused by PINK1 mutations: clinical and functional study.

Gelmetti V et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2008

PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum.

Marongiu R et al.

Human Mutation, 2008

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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."