Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.L539F
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PINK1

NM_032409.3:p.L539F

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

Pain in monogenic Parkinson's disease: a comprehensive review.

Alizadeh P et al.

Frontiers in Neurology, 2023

Mapping of a N-terminal α-helix domain required for human PINK1 stabilization, Serine228 autophosphorylation and activation in cells.

Kakade P et al.

Open Biology, 2022

PINK1 p.K520RfsX3 mutation identified in a Chinese family with early-onset Parkinson's disease.

Wang P et al.

Neuroscience Letters, 2018

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 and mechanisms of Parkinson's disease-associated mutations.

Kumar A et al.

Elife, 2017

Mutation Analysis of Consanguineous Moroccan Patients with Parkinson's Disease Combining Microarray and Gene Panel.

Bouhouche A et al.

Frontiers in Neurology, 2017

A Novel Homozygous p.L539F Mutation Identified in PINK1 Gene in a Moroccan Patient with Parkinsonism.

Ben El Haj R et al.

Biomed Research International, 2016

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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."