Associated Papers
Bridging pleiotropic mechanisms in leprosy type-1 reactions and neurodegenerative diseases.
Fava VM et al.
Scientific Reports, 2025
41430073 (PubMed )
Supplement: 41598_2025_30734_MOESM2_ESM.xlsx › Variants
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
Genetic profiles of multiple system atrophy revealed by exome sequencing, long-read sequencing and spinocerebellar ataxia repeat expansion analysis.
Li XY et al.
European Journal of Neurology, 2024
A molecular simulation study of the clinical G409V mutant in PINK1 associated with early-onset Parkinson's disease.
Lo HH et al.
International Journal of Biological Macromolecules, 2024
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7
Analysis of dementia-related gene variants in APOE ε4 noncarrying Korean patients with early-onset Alzheimer's disease.
Park JE et al.
Neurobiology of Aging, 2020
Structure of PINK1 in complex with its substrate ubiquitin.
Schubert AF et al.
Nature, 2017
Harnessing human ADAR2 for RNA repair - Recoding a PINK1 mutation rescues mitophagy.
Wettengel J et al.
Nucleic Acids Research, 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 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
Phylogenetic and in silico structural analysis of the Parkinson disease-related kinase PINK1.
Cardona F et al.
Human Mutation, 2011
Mutation analysis of Parkin, PINK1 and DJ-1 genes in Chinese patients with sporadic early onset parkinsonism.
Guo JF et al.
Journal of Neurology, 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
20506312 (PubMed )
Supplement: humu0031-0763-SD1.pdf
PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum.
Marongiu R et al.
Human Mutation, 2008
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