Associated Papers
An update on the monogenic causes of Parkinson's disease: Impact on patient stratification and personalised medicine.
Asmi S et al.
Ageing Research Reviews, 2026
Repeat Variants, Biomarkers, and Molecular Signatures in Parkinson's Disease: ATXN2, ATXN3, CACNA1A, PRNP, TBP, C9ORF72, TOMM40, APOE, and POLG-A Swedish Perspective.
Laffita-Mesa JM et al.
International Journal of Molecular Sciences, 2025
Deubiquitinases as novel therapeutic targets for diseases.
Xian Y et al.
Medcomm, 2024
Is There a Functional Role for the Knotted Topology in Protein UCH-L1?
Ferreira SGF et al.
Journal of Chemical Information and Modeling, 2024
Altered Protein Dynamics and a More Reactive Catalytic Cysteine in a Neurodegeneration-associated UCHL1 Mutant.
Kenny S et al.
Journal of Molecular Biology, 2024
Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
Yang N et al.
Bmc Pediatrics, 2024
Ubiquitin Carboxyl-Terminal Hydrolase L1 and Its Role in Parkinson's Disease.
Buneeva O et al.
International Journal of Molecular Sciences, 2024
Global analysis of suppressor mutations that rescue human genetic defects.
Ünlü B et al.
Genome Medicine, 2023
Role of UCHL1 in the pathogenesis of neurodegenerative diseases and brain injury.
Mi Z et al.
Ageing Research Reviews, 2023
Genetic Architecture of Parkinson's Disease.
Shadrina MI et al.
Biochemistry. Biokhimiia, 2023
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
Fang Y et al.
Frontiers in Genetics, 2023
Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.
Cukier HN et al.
Npj Parkinson's Disease, 2022
A PIAS1 Protective Variant S510G Delays polyQ Disease Onset by Modifying Protein Homeostasis.
Lee YH et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2022
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
Stepwise oxidations play key roles in the structural and functional regulations of DJ-1.
Song IK et al.
The Biochemical Journal, 2021
Loss of UCHL1 rescues the defects related to Parkinson's disease by suppressing glycolysis.
Ham SJ et al.
Science Advances, 2021
Association study of DNAJC13, UCHL1, HTRA2, GIGYF2, and EIF4G1 with Parkinson's disease.
Saini P et al.
Neurobiology of Aging, 2021
Multi-omics integration identifies key upstream regulators of pathomechanisms in hypertrophic cardiomyopathy due to truncating MYBPC3 mutations.
Pei J et al.
Clinical Epigenetics, 2021
Deubiquitylating enzymes in neuronal health and disease.
Amer-Sarsour F et al.
Cell Death & Disease, 2021
Molecular evolutionary and structural analysis of human UCHL1 gene demonstrates the relevant role of intragenic epistasis in Parkinson's disease and other neurological disorders.
Nawaz MS et al.
Bmc Evolutionary Biology, 2020
Genetic analysis of Mendelian mutations in a large UK population-based Parkinson's disease study.
Tan MMX et al.
Brain : a Journal of Neurology, 2019
Impact of gene mutation in the development of Parkinson's disease.
Selvaraj S et al.
Genes & Diseases, 2019
Long Non-coding RNAs Associated With Neurodegeneration-Linked Genes Are Reduced in Parkinson's Disease Patients.
Elkouris M et al.
Frontiers in Cellular Neuroscience, 2019
Analysis of Exon Dosage Using Multiplex Ligation-Dependent Probe Amplification in Chinese Patients with Early-Onset Parkinson's Disease.
Lin Y et al.
European Neurology, 2019
A cysteine near the C-terminus of UCH-L1 is dispensable for catalytic activity but is required to promote AKT phosphorylation, eIF4F assembly, and malignant B-cell survival.
Hussain S et al.
Cell Death Discovery, 2019
Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.
Zhang X et al.
Bmc Neurology, 2018
Novel splice-site variant of UCHL1 in an Indian family with autosomal recessive spastic paraplegia-79.
Das Bhowmik A et al.
Journal of Human Genetics, 2018
Advances in the discovery of genetic risk factors for complex forms of neurodegenerative disorders: contemporary approaches, success, challenges and prospects.
Kumar S et al.
Journal of Genetics, 2018
Risk factors for the onset and progression of Huntington disease.
Chao TK et al.
Neurotoxicology, 2017
S-nitrosylation of UCHL1 induces its structural instability and promotes α-synuclein aggregation.
Kumar R et al.
Scientific Reports, 2017
Novel UCHL1 mutations reveal new insights into ubiquitin processing.
Rydning SL et al.
Human Molecular Genetics, 2017
Familial Mutations and Post-translational Modifications of UCH-L1 in Parkinson's Disease and Neurodegenerative Disorders.
Lee YC et al.
Current Protein & Peptide Science, 2017
Molecular characterization of genes modifying the age at onset in Huntington's disease in Uruguayan patients.
Vital M et al.
The International Journal of Neuroscience, 2016
Mitochondrial NADH Dehydrogenase Subunit 3 Polymorphism Associated with an Earlier Age at Onset in Male Machado-Joseph disease Patients.
Chen S et al.
Cns Neuroscience & Therapeutics, 2016
The Ubiquitin-Proteasome System: Potential Therapeutic Targets for Alzheimer's Disease and Spinal Cord Injury.
Gong B et al.
Frontiers in Molecular Neuroscience, 2016
Compound mouse mutants of bZIP transcription factors Mafg and Mafk reveal a regulatory network of non-crystallin genes associated with cataract.
Agrawal SA et al.
Human Genetics, 2015
NH2-truncated human tau induces deregulated mitophagy in neurons by aberrant recruitment of Parkin and UCHL-1: implications in Alzheimer's disease.
Corsetti V et al.
Human Molecular Genetics, 2015
Parkin-mediated K63-polyubiquitination targets ubiquitin C-terminal hydrolase L1 for degradation by the autophagy-lysosome system.
McKeon JE et al.
Cellular and Molecular Life Sciences : Cmls, 2015
Association between ubiquitin carboxy-terminal hydrolase-L1 S18Y variant and risk of Parkinson's disease: the impact of ethnicity and onset age.
Liu Y et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2015
Lack of association between UCHL1 S18Y gene polymorphism and Parkinson's disease in the Asian population: a meta-analysis.
Sun S et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2014
Role of genomics in translational research for Parkinson's disease.
Sekiyama K et al.
Biochemical and Biophysical Research Communications, 2014
UCH-L1 S18Y variant and risk of Parkinson's disease in Asian populations: an updated meta-analysis.
Zhu R et al.
Neuro-degenerative Diseases, 2014
Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration.
Bilguvar K et al.
Proceedings of the National Academy of Sciences of the United States of America, 2013
Genetic risk factors in Parkinson's disease: single gene effects and interactions of genotypes.
Göbel A et al.
Journal of Neurology, 2012
UCHL1 S18Y variant is a risk factor for Parkinson's disease in Japan.
Miyake Y et al.
Bmc Neurology, 2012
Association of a protective paraoxonase 1 (PON1) polymorphism in Parkinson's disease.
Belin AC et al.
Neuroscience Letters, 2012