Associated Papers
Methodological validation of Miro1 retention as a candidate Parkinson's disease biomarker.
Drwesh L et al.
Npj Parkinson's Disease, 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
Screening for PRKN and PINK1 mutations in Ecuadorian patients with early-onset Parkinson's Disease.
Franz TM et al.
Neurologia I Neurochirurgia Polska, 2025
Tom20 gates PINK1 activity and mediates its tethering of the TOM and TIM23 translocases upon mitochondrial stress.
Eldeeb MA et al.
Proceedings of the National Academy of Sciences of the United States of America, 2024
MTSviewer: A database to visualize mitochondrial targeting sequences, cleavage sites, and mutations on protein structures.
Bayne AN et al.
Plos One, 2023
Systematic Functional Analysis of PINK1 and PRKN Coding Variants.
Broadway BJ et al.
Cells, 2022
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
Systematic analysis of PINK1 variants of unknown significance shows intact mitophagy function for most variants.
Ma KY et al.
Npj Parkinson's Disease, 2021
Discordant Monozygotic Parkinson Disease Twins: Role of Mitochondrial Integrity.
Dulovic-Mahlow M et al.
Annals of Neurology, 2021
New endemic familial parkinsonism in south Moravia, Czech Republic and its genetical background.
Bartoníková T et al.
Medicine, 2018
Exome sequencing in dementia with Lewy bodies.
Keogh MJ et al.
Translational Psychiatry, 2016
Identification of HPV integration and gene mutation in HeLa cell line by integrated analysis of RNA-Seq and MS/MS data.
Sun H et al.
Journal of Proteome Research, 2015
Mitochondrial dysfunction and mitophagy in Parkinson's: from familial to sporadic disease.
Ryan BJ et al.
Trends in Biochemical Sciences, 2015
A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.
Villa F et al.
Immunity & Ageing : I & A, 2014
PINK1 rendered temperature sensitive by disease-associated and engineered mutations.
Narendra DP et al.
Human Molecular Genetics, 2013
Analysis of the regulatory and catalytic domains of PTEN-induced kinase-1 (PINK1).
Sim CH et al.
Human Mutation, 2012
Mutation analysis of the PINK1 gene in Southern Italian patients with early- and late-onset parkinsonism.
Scornaienchi V et al.
Parkinsonism & Related Disorders, 2012
Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database.
Lill CM et al.
Plos Genetics, 2012
Phylogenetic and in silico structural analysis of the Parkinson disease-related kinase PINK1.
Cardona F et al.
Human Mutation, 2011
PINK1 cleavage at position A103 by the mitochondrial protease PARL.
Deas E et al.
Human Molecular Genetics, 2011
Assessing the prevalence of PINK1 genetic variants in South African patients diagnosed with early- and late-onset Parkinson's disease.
Keyser RJ et al.
Biochemical and Biophysical Research Communications, 2010
Parkin and PINK1 mutations in early-onset Parkinson's disease: comprehensive screening in publicly available cases and control.
Brooks J et al.
Journal of Medical Genetics, 2009
Screening PARK genes for mutations in early-onset Parkinson's disease patients from Queensland, Australia.
Mellick GD et al.
Parkinsonism & Related Disorders, 2009
PINK1 mutation heterozygosity and the risk of Parkinson's disease.
Toft M et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2007
Mutational analysis of the PINK1 gene in early-onset parkinsonism in Europe and North Africa.
Ibáñez P et al.
Brain : a Journal of Neurology, 2006
Exclusion of PINK1 as candidate gene for the late-onset form of Parkinson's disease in two European populations.
Schlitter AM et al.
Journal of Negative Results in Biomedicine, 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