Associated Papers
Lack of association between G6PD variants and Parkinson disease.
Chifamba LV et al.
Hgg Advances, 2026
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Zech M et al.
Brain : a Journal of Neurology, 2025
Targeting mitophagy in neurodegenerative diseases.
Antico O et al.
Nature Reviews. Drug Discovery, 2025
Assessing the relationship between monoallelic PRKN mutations and Parkinson's risk.
Lubbe SJ et al.
Human Molecular Genetics, 2021
Integrated sequencing and array comparative genomic hybridization in familial Parkinson disease.
Robak LA et al.
Neurology. Genetics, 2020
Parkin truncating variants result in a loss-of-function phenotype.
Santos M et al.
Scientific Reports, 2019
Metabolomics-based identification of metabolic alterations in PARK2.
Okuzumi A et al.
Annals of Clinical and Translational Neurology, 2019
The M458L missense mutation disrupts the catalytic properties of Parkin.
Do YJ et al.
Febs Letters, 2018
Systematic analyses of rpm-1 suppressors reveal roles for ESS-2 in mRNA splicing in Caenorhabditis elegans.
Noma K et al.
Genetics, 2014
Inhibition of apoptotic Bax translocation to the mitochondria is a central function of parkin.
Charan RA et al.
Cell Death & Disease, 2014
The E3 ligase parkin maintains mitochondrial integrity by increasing linear ubiquitination of NEMO.
Müller-Rischart AK et al.
Molecular Cell, 2013
The C-terminus of PARK2 is required for its self-interaction, solubility and role in the spindle assembly checkpoint.
Chen Y et al.
Biochimica Et Biophysica Acta, 2012
Parkin selectively alters the intrinsic threshold for mitochondrial cytochrome c release.
Berger AK et al.
Human Molecular Genetics, 2009
Loss of parkin or PINK1 function increases Drp1-dependent mitochondrial fragmentation.
Lutz AK et al.
The Journal of Biological Chemistry, 2009
Parkin mediates the degradation-independent ubiquitination of Hsp70.
Moore DJ et al.
Journal of Neurochemistry, 2008
Aberrant folding of pathogenic Parkin mutants: aggregation versus degradation.
Schlehe JS et al.
The Journal of Biological Chemistry, 2008
Biochemical analysis of Parkinson's disease-causing variants of Parkin, an E3 ubiquitin-protein ligase with monoubiquitylation capacity.
Hampe C et al.
Human Molecular Genetics, 2006
Effect of overexpression of wild-type or mutant parkin on the cellular response induced by toxic insults.
Hyun DH et al.
Journal of Neuroscience Research, 2005
Transcription factor single-minded 2 (SIM2) is ubiquitinated by the RING-IBR-RING-type E3 ubiquitin ligases.
Okui M et al.
Experimental Cell Research, 2005
Familial-associated mutations differentially disrupt the solubility, localization, binding and ubiquitination properties of parkin.
Sriram SR et al.
Human Molecular Genetics, 2005
Alterations in the solubility and intracellular localization of parkin by several familial Parkinson's disease-linked point mutations.
Wang C et al.
Journal of Neurochemistry, 2005
Pathogenic mutations inactivate parkin by distinct mechanisms.
Henn IH et al.
Journal of Neurochemistry, 2005
Parkin genetics: one model for Parkinson's disease.
Mata IF et al.
Human Molecular Genetics, 2004
The p38 subunit of the aminoacyl-tRNA synthetase complex is a Parkin substrate: linking protein biosynthesis and neurodegeneration.
Corti O et al.
Human Molecular Genetics, 2003
Parkin ubiquitinates the alpha-synuclein-interacting protein, synphilin-1: implications for Lewy-body formation in Parkinson disease.
Chung KK et al.
Nature Medicine, 2001
New mutation (R42P) of the parkin gene in the ubiquitinlike domain associated with parkinsonism.
Terreni L et al.
Neurology, 2001
Familial Parkinson's disease. Alpha-synuclein and parkin.
Mizuno Y et al.
Advances in Neurology, 2001
Autosomal Recessive Juvenile Parkinsonism (AR-JP): Genetic Diagnosis.
Matsumine H et al.
Methods in Molecular Medicine, 2001
Parkin functions as an E2-dependent ubiquitin- protein ligase and promotes the degradation of the synaptic vesicle-associated protein, CDCrel-1.
Zhang Y et al.
Proceedings of the National Academy of Sciences of the United States of America, 2000
Association between early-onset Parkinson's disease and mutations in the parkin gene.
Lücking CB et al.
The New England Journal of Medicine, 2000
Progress in the clinical and molecular genetics of familial parkinsonism.
Kitada T et al.
Neurogenetics, 2000
A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease.
Abbas N et al.
Human Molecular Genetics, 1999
[Clinical characteristics and linkage analysis of autosomal recessive form of juvenile parkinsonism(AR-JP)].
Saito M et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 1997