Associated Papers
Identification of myokymia in adult-onset hereditary spastic paraplegia type 79A: Implications for the phenotypic spectrum.
Toyoda N et al.
Eneurologicalsci, 2026
Ubiquitination in the Nervous System: From Molecular Mechanisms to Disease Implications.
Xue Y et al.
Molecular Neurobiology, 2025
Population-Specific Differences in Pathogenic Variants of Genes Associated with Monogenic Parkinson's Disease.
Flores-Ocampo V et al.
Genes, 2025
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
Is There a Functional Role for the Knotted Topology in Protein UCH-L1?
Ferreira SGF et al.
Journal of Chemical Information and Modeling, 2024
Deubiquitinases in muscle physiology and disorders.
Olie CS et al.
Biochemical Society Transactions, 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
Role of NFE2L1 in the Regulation of Proteostasis: Implications for Aging and Neurodegenerative Diseases.
Chandran A et al.
Biology, 2023
Role of UCHL1 in the pathogenesis of neurodegenerative diseases and brain injury.
Mi Z et al.
Ageing Research Reviews, 2023
Upper motor neurons are a target for gene therapy and UCHL1 is necessary and sufficient to improve cellular integrity of diseased upper motor neurons.
Genç B et al.
Gene Therapy, 2022
Loss of UCHL1 rescues the defects related to Parkinson's disease by suppressing glycolysis.
Ham SJ et al.
Science Advances, 2021
Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion.
McMacken G et al.
Journal of Neurology, 2020
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
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
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
Absence of UCHL 1 function leads to selective motor neuropathy.
Genç B et al.
Annals of Clinical and Translational Neurology, 2016
Corticospinal Motor Neurons Are Susceptible to Increased ER Stress and Display Profound Degeneration in the Absence of UCHL1 Function.
Jara JH et al.
Cerebral Cortex (new York, N.y. : 1991), 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
Ubiquitin C-terminal hydrolase L1 (UCH-L1) acts as a novel potentiator of cyclin-dependent kinases to enhance cell proliferation independently of its hydrolase activity.
Kabuta T et al.
The Journal of Biological Chemistry, 2013
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