Associated Papers
Heterozygous PRKN mutations are common but do not increase the risk of Parkinson's disease.
Zhu W et al.
Brain : a Journal of Neurology, 2022
Resveratrol Treatment in Human Parkin-Mutant Fibroblasts Modulates cAMP and Calcium Homeostasis Regulating the Expression of Mitochondria-Associated Membranes Resident Proteins.
Signorile A et al.
Biomolecules, 2021
Identification of sixteen novel candidate genes for late onset Parkinson's disease.
Gialluisi A et al.
Molecular Neurodegeneration, 2021
34148545 (PubMed )
Supplement: 13024_2021_455_MOESM1_ESM.pdf
Assessing the relationship between monoallelic PRKN mutations and Parkinson's risk.
Lubbe SJ et al.
Human Molecular Genetics, 2021
33448283 (PubMed )
Supplement: 2020_12_09_monoallelic_v31_hmg_suppl_data_accepted_ddaa273.docx
Parkin Mutation Affects Clock Gene-Dependent Energy Metabolism.
Pacelli C et al.
International Journal of Molecular Sciences, 2019
Increased Levels of cAMP by the Calcium-Dependent Activation of Soluble Adenylyl Cyclase in Parkin-Mutant Fibroblasts.
Tanzarella P et al.
Cells, 2019
A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.
George AJ et al.
Frontiers in Genetics, 2018
29491882 (PubMed )
Supplement: Table1.xlsx › Sheet1
Lipid profiling of parkin-mutant human skin fibroblasts.
Lobasso S et al.
Journal of Cellular Physiology, 2017
Mutation analysis of the PARKIN, PINK1, DJ1, and SNCA genes in Turkish early-onset Parkinson's patients and genotype-phenotype correlations.
Erer S et al.
Clinical Neurology and Neurosurgery, 2016
Altered protein expression pattern in skin fibroblasts from parkin-mutant early-onset Parkinson's disease patients.
Lippolis R et al.
Biochimica Et Biophysica Acta, 2015
Mutations in PRKN and SNCA Genes Important for the Progress of Parkinson's Disease.
Oczkowska A et al.
Current Genomics, 2013
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
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
Parkin genetics: one model for Parkinson's disease.
Mata IF et al.
Human Molecular Genetics, 2004
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