Associated Papers
The Juvenile Parkinson's Disease Mutation C212Y Impairs Mitochondrial Homeostasis in a Caenorhabditis elegans Model.
Spector E et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2025
Canonical and alternate mechanisms that regulate ubiquitylation by the E3 ligase parkin.
Basilone NT et al.
Biochemical Society Transactions, 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
Therapeutic potential of Parkin and its regulation in Parkinson's disease.
Safreena N et al.
Biochemical Pharmacology, 2024
Parkinson's Disease Gene Screening in Familial Cases from Central and South America.
Lorenzo-Betancor O et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2024
Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson's disease study.
Westenberger A et al.
Brain : a Journal of Neurology, 2024
PRKN-linked familial Parkinson's disease: cellular and molecular mechanisms of disease-linked variants.
Clausen L et al.
Cellular and Molecular Life Sciences : Cmls, 2024
Genotype-phenotype correlation in PRKN-associated Parkinson's disease.
Menon PJ et al.
Npj Parkinson's Disease, 2024
A mutational atlas for Parkin proteostasis.
Clausen L et al.
Nature Communications, 2024
Frequency of Hereditary and GBA1-Related Parkinsonism in Latin America: A Systematic Review and Meta-Analysis.
Saffie Awad P et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2024
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Over-Mutated Mitochondrial, Lysosomal and TFEB-Regulated Genes in Parkinson's Disease.
Segur-Bailach E et al.
Journal of Clinical Medicine, 2022
Comparative analysis of web-based programs for single amino acid substitutions in proteins.
Choudhury A et al.
Plos One, 2022
Assessing the relationship between monoallelic PRKN mutations and Parkinson's risk.
Lubbe SJ et al.
Human Molecular Genetics, 2021
Multitasking guardian of mitochondrial quality: Parkin function and Parkinson's disease.
Kamienieva I et al.
Translational Neurodegeneration, 2021
Genetics of Progressive Supranuclear Palsy: A Review.
Wen Y et al.
Journal of Parkinson's Disease, 2021
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
The PARK2 Mutation Associated with Parkinson's Disease Enhances the Vulnerability of Peripheral Blood Lymphocytes to Paraquat.
Ming F et al.
Biomed Research International, 2020
The landscape of Parkin variants reveals pathogenic mechanisms and therapeutic targets in Parkinson's disease.
Yi W et al.
Human Molecular Genetics, 2019
Bioenergetics and Autophagic Imbalance in Patients-Derived Cell Models of Parkinson Disease Supports Systemic Dysfunction in Neurodegeneration.
González-Casacuberta I et al.
Frontiers in Neuroscience, 2019
Pooled-DNA target sequencing of Parkinson genes reveals novel phenotypic associations in Spanish population.
Diez-Fairen M et al.
Neurobiology of Aging, 2018
Impact of altered phosphorylation on loss of function of juvenile Parkinsonism-associated genetic variants of the E3 ligase parkin.
Aguirre JD et al.
The Journal of Biological Chemistry, 2018
A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.
George AJ et al.
Frontiers in Genetics, 2018
Cellular and Molecular Basis of Neurodegeneration in Parkinson Disease.
Zeng XS et al.
Frontiers in Aging Neuroscience, 2018
Neuropathology of genetic synucleinopathies with parkinsonism: Review of the literature.
Schneider SA et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2017
Language Deficits as a Preclinical Window into Parkinson's Disease: Evidence from Asymptomatic Parkin and Dardarin Mutation Carriers.
García AM et al.
Journal of the International Neuropsychological Society : Jins, 2017
Analysis of the genetic variability in Parkinson's disease from Southern Spain.
Bandrés-Ciga S et al.
Neurobiology of Aging, 2016
Genetic Disorders with Tau Pathology: A Review of the Literature and Report of Two Patients with Tauopathy and Positive Family Histories.
Tacik P et al.
Neuro-degenerative Diseases, 2016
Structural studies of parkin and sacsin: Mitochondrial dynamics in neurodegenerative diseases.
Li X et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2015
PINK1 and Parkin control localized translation of respiratory chain component mRNAs on mitochondria outer membrane.
Gehrke S et al.
Cell Metabolism, 2015
Mutations in PRKN and SNCA Genes Important for the Progress of Parkinson's Disease.
Oczkowska A et al.
Current Genomics, 2013
Mutational screening of PARKIN identified a 3' UTR variant (rs62637702) associated with Parkinson's disease.
de Mena L et al.
Journal of Molecular Neuroscience : Mn, 2013
Structure and Function of Parkin, PINK1, and DJ-1, the Three Musketeers of Neuroprotection.
Trempe JF et al.
Frontiers in Neurology, 2013
The neuropathology of genetic Parkinson's disease.
Poulopoulos M et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2012
Lewy body pathology and typical Parkinson disease in a patient with a heterozygous (R275W) mutation in the Parkin gene (PARK2).
Ruffmann C et al.
Acta Neuropathologica, 2012
Olfaction in Parkin heterozygotes and compound heterozygotes: the CORE-PD study.
Alcalay RN et al.
Neurology, 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
Predictors of parkin mutations in early-onset Parkinson disease: the consortium on risk for early-onset Parkinson disease study.
Marder KS et al.
Archives of Neurology, 2010
PINK1/Parkin-mediated mitophagy is dependent on VDAC1 and p62/SQSTM1.
Geisler S et al.
Nature Cell Biology, 2010
PINK1 is selectively stabilized on impaired mitochondria to activate Parkin.
Narendra DP et al.
Plos Biology, 2010
The Relationship between Parkin and Protein Aggregation in Neurodegenerative Diseases.
Khandelwal PJ et al.
Frontiers in Psychiatry, 2010
Parkin protects mitochondrial genome integrity and supports mitochondrial DNA repair.
Rothfuss O et al.
Human Molecular Genetics, 2009
Identification of a novel Zn2+-binding domain in the autosomal recessive juvenile Parkinson-related E3 ligase parkin.
Hristova VA et al.
The Journal of Biological Chemistry, 2009