Associated Papers
Genetic testing for Parkinson's disease in Israel: Insights from the Rostock Parkinson's Disease (ROPAD) study.
Anis S et al.
Parkinsonism & Related Disorders, 2025
Population-Specific Differences in Pathogenic Variants of Genes Associated with Monogenic Parkinson's Disease.
Flores-Ocampo V et al.
Genes, 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
PTMD 2.0: an updated database of disease-associated post-translational modifications.
Huang X et al.
Nucleic Acids Research, 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
Analysis of rare Parkinson's disease variants in millions of people.
Pitz V et al.
Npj Parkinson's Disease, 2024
Analysis of rare Parkinson's disease variants in millions of people.
Pitz V et al.
Research Square, 2023
Post-translational modification and mitochondrial function in Parkinson's disease.
Luo S et al.
Frontiers in Molecular Neuroscience, 2023
PINK1 kinase dysfunction triggers neurodegeneration in the primate brain without impacting mitochondrial homeostasis.
Yang W et al.
Protein & Cell, 2022
Systematic analysis of PINK1 variants of unknown significance shows intact mitophagy function for most variants.
Ma KY et al.
Npj Parkinson's Disease, 2021
PINK1: A Bridge between Mitochondria and Parkinson's Disease.
Gonçalves FB et al.
Life (basel, Switzerland), 2021
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
PINK1 phosphorylates Drp1S616 to regulate mitophagy-independent mitochondrial dynamics.
Han H et al.
Embo Reports, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
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
Identification of Ser465 as a novel PINK1 autophosphorylation site.
Guo JF et al.
Translational Neurodegeneration, 2017
Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.
Genovese G et al.
Nature Neuroscience, 2016
Ultrasound-based motion analysis demonstrates bilateral arm hypokinesia during gait in heterozygous PINK1 mutation carriers.
Nürnberger L et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2015
PINK1 kinase catalytic activity is regulated by phosphorylation on serines 228 and 402.
Aerts L et al.
The Journal of Biological Chemistry, 2015
Parkinson's Disease in Saudi Patients: A Genetic Study.
Al-Mubarak BR et al.
Plos One, 2015
T313M polymorphism of the PINK1 gene in Parkinson's disease.
Luo Q et al.
Experimental and Therapeutic Medicine, 2014
Emerging modes of PINK1 signaling: another task for MARK2.
Matenia D et al.
Frontiers in Molecular Neuroscience, 2014
PINK1 rendered temperature sensitive by disease-associated and engineered mutations.
Narendra DP et al.
Human Molecular Genetics, 2013
Characterization of PINK1 (PTEN-induced putative kinase 1) mutations associated with Parkinson disease in mammalian cells and Drosophila.
Song S et al.
The Journal of Biological Chemistry, 2013
Analysis of the regulatory and catalytic domains of PTEN-induced kinase-1 (PINK1).
Sim CH et al.
Human Mutation, 2012
Microtubule affinity-regulating kinase 2 (MARK2) turns on phosphatase and tensin homolog (PTEN)-induced kinase 1 (PINK1) at Thr-313, a mutation site in Parkinson disease: effects on mitochondrial transport.
Matenia D et al.
The Journal of Biological Chemistry, 2012
Parkinson disease: insights in clinical, genetic and pathological features of monogenic disease subtypes.
Crosiers D et al.
Journal of Chemical Neuroanatomy, 2011
Mutation analysis of PINK1 gene in patients with early-onset Parkinsonism.
Zhang X et al.
Zhong Nan Da Xue Xue Bao. Yi Xue Ban = Journal of Central South University. Medical Sciences, 2011
Phylogenetic and in silico structural analysis of the Parkinson disease-related kinase PINK1.
Cardona F et al.
Human Mutation, 2011
Clinical features and [11C]-CFT PET analysis of PARK2, PARK6, PARK7-linked autosomal recessive early onset Parkinsonism.
Guo JF et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 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
A new variant of the ATP13A2 gene in Chinese patients with early-onset parkinsonism.
Wang L et al.
Chinese Medical Journal, 2009
Parkin, PINK1, and DJ-1 form a ubiquitin E3 ligase complex promoting unfolded protein degradation.
Xiong H et al.
The Journal of Clinical Investigation, 2009
Mutation analysis of Parkin, PINK1, DJ-1 and ATP13A2 genes in Chinese patients with autosomal recessive early-onset Parkinsonism.
Guo JF et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2008
The kinase domain of mitochondrial PINK1 faces the cytoplasm.
Zhou C et al.
Proceedings of the National Academy of Sciences of the United States of America, 2008
Parkinson's disease in Arabs: a systematic review.
Benamer HT et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2008