Associated Papers
Population-Specific Differences in Pathogenic Variants of Genes Associated with Monogenic Parkinson's Disease.
Flores-Ocampo V et al.
Genes, 2025
40282414 (PubMed )
Supplement: genes-16-00454-s001.zip › Supplementary_Tables.xlsx › ST3
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG79
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
Ubiquitin Carboxyl-Terminal Hydrolase L1 and Its Role in Parkinson's Disease.
Buneeva O et al.
International Journal of Molecular Sciences, 2024
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
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