Associated Papers
AI-augmented prediction of high-risk PINK1 variants associated with Parkinson's disease: integrating multilayered bioinformatics, MD simulation, and deep learning.
Rehman HU et al.
Methods (san Diego, Calif.), 2025
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
Understanding monogenic Parkinson's disease at a global scale.
Junker J et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Genetic study of early-onset Parkinson's disease in the Malaysian population.
Tay YW et al.
Parkinsonism & Related Disorders, 2023
Systematic analysis of PINK1 variants of unknown significance shows intact mitophagy function for most variants.
Ma KY et al.
Npj Parkinson's Disease, 2021
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
Structure of PINK1 and mechanisms of Parkinson's disease-associated mutations.
Kumar A et al.
Elife, 2017
The Effects of Variants in the Parkin, PINK1, and DJ-1 Genes along with Evidence for their Pathogenicity.
Hauser DN et al.
Current Protein & Peptide Science, 2017
PINK1 deficiency enhances autophagy and mitophagy induction.
Gómez-Sánchez R et al.
Molecular & Cellular Oncology, 2016
PINK1 positively regulates HDAC3 to suppress dopaminergic neuronal cell death.
Choi HK et al.
Human Molecular Genetics, 2015
Discovery of catalytically active orthologues of the Parkinson's disease kinase PINK1: analysis of substrate specificity and impact of mutations.
Woodroof HI et al.
Open Biology, 2011
Phylogenetic and in silico structural analysis of the Parkinson disease-related kinase PINK1.
Cardona F et al.
Human Mutation, 2011
The genetics of Parkinson disease.
Bekris LM et al.
Journal of Geriatric Psychiatry and Neurology, 2010
Oxidative stress alters the regulatory control of p66Shc and Akt in PINK1 deficient cells.
Maj MC et al.
Biochemical and Biophysical Research Communications, 2010
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
Tickled PINK1: mitochondrial homeostasis and autophagy in recessive Parkinsonism.
Chu CT
Biochimica Et Biophysica Acta, 2010
A cell biological perspective on mitochondrial dysfunction in Parkinson disease and other neurodegenerative diseases.
Mandemakers W et al.
Journal of Cell Science, 2007
C-terminal truncation and Parkinson's disease-associated mutations down-regulate the protein serine/threonine kinase activity of PTEN-induced kinase-1.
Sim CH et al.
Human Molecular Genetics, 2006
Homozygous and heterozygous PINK1 mutations: considerations for diagnosis and care of Parkinson's disease patients.
Zadikoff C et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2006
Wild-type PINK1 prevents basal and induced neuronal apoptosis, a protective effect abrogated by Parkinson disease-related mutations.
Petit A et al.
The Journal of Biological Chemistry, 2005
PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism.
Klein C et al.
European Journal of Human Genetics : Ejhg, 2005
Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes.
Bonifati V et al.
Neurology, 2005
Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease.
Rogaeva E et al.
Archives of Neurology, 2004