Varaico: Literature-Extracted Genetic Variants

Gene:UCHL1
Variant:p.I93M
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UCHL1

NM_004181.5:p.I93M

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

Computational association in parkinson's disease SNPs with brain structural and functional alterations.

Subramaniyan S et al.

Neurogenetics, 2025

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG79

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

Ubiquitin Carboxyl-Terminal Hydrolase L1 and Its Role in Parkinson's Disease.

Buneeva O et al.

International Journal of Molecular Sciences, 2024

α-Synuclein ubiquitination - functions in proteostasis and development of Lewy bodies.

Ho HH et al.

Frontiers in Molecular Neuroscience, 2024

Ca2+ signalling: A common language for organelles crosstalk in Parkinson's disease.

Peggion C et al.

Cell Calcium, 2023

Chaperone-mediated autophagy in neurodegenerative diseases: mechanisms and therapy.

Liu Y et al.

Molecular and Cellular Biochemistry, 2023

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

Genetic Architecture of Parkinson's Disease.

Shadrina MI et al.

Biochemistry. Biokhimiia, 2023

Loss of UCHL1 rescues the defects related to Parkinson's disease by suppressing glycolysis.

Ham SJ et al.

Science Advances, 2021

Deubiquitylating enzymes in neuronal health and disease.

Amer-Sarsour F et al.

Cell Death & Disease, 2021

Gauging the role and impact of drug interactions and repurposing in neurodegenerative disorders.

Khatri DK et al.

Current Research in Pharmacology and Drug Discovery, 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

Impact of gene mutation in the development of Parkinson's disease.

Selvaraj S et al.

Genes & Diseases, 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

Parkinson Disease from Mendelian Forms to Genetic Susceptibility: New Molecular Insights into the Neurodegeneration Process.

Karimi-Moghadam A et al.

Cellular and Molecular Neurobiology, 2018

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

DJ-1 Inhibits α-Synuclein Aggregation by Regulating Chaperone-Mediated Autophagy.

Xu CY et al.

Frontiers in Aging Neuroscience, 2017

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

Chaperone-mediated autophagy: roles in neuroprotection.

Cai Z et al.

Neuroscience Bulletin, 2015

Chaperone-mediated autophagy and neurodegeneration: connections, mechanisms, and therapeutic implications.

Liu X et al.

Neuroscience Bulletin, 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

Chaperone-mediated autophagy: roles in disease and aging.

Cuervo AM et al.

Cell Research, 2014

Chaperone-mediated autophagy: roles in neurodegeneration.

Wang G et al.

Translational Neurodegeneration, 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

Genetic insights into sporadic Parkinson's disease pathogenesis.

Chai C et al.

Current Genomics, 2013

Stabilization of an unusual salt bridge in ubiquitin by the extra C-terminal domain of the proteasome-associated deubiquitinase UCH37 as a mechanism of its exo specificity.

Morrow ME et al.

Biochemistry, 2013

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

α-Synuclein and neuronal cell death.

Yasuda T et al.

Molecular Neurobiology, 2013

Ubiquitin hydrolase UCH-L1 destabilizes mTOR complex 1 by antagonizing DDB1-CUL4-mediated ubiquitination of raptor.

Hussain S et al.

Molecular and Cellular Biology, 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

Parkinson's disease: from genetics to treatments.

Fan HC et al.

Cell Transplantation, 2013

Genetically engineered mouse models of Parkinson's disease.

Crabtree DM et al.

Brain Research Bulletin, 2012

Selective neuroprotective effects of the S18Y polymorphic variant of UCH-L1 in the dopaminergic system.

Xilouri M et al.

Human Molecular Genetics, 2012

Excess α-synuclein worsens disease in mice lacking ubiquitin carboxy-terminal hydrolase L1.

Shimshek DR et al.

Scientific Reports, 2012

Differential effects of UCHL1 modulation on alpha-synuclein in PD-like models of alpha-synucleinopathy.

Cartier AE et al.

Plos One, 2012

Lack of genetic association of the UCHL1 gene with Alzheimer's disease and Parkinson's disease with dementia.

Shibata N et al.

Dementia and Geriatric Cognitive Disorders, 2012

Polymorphic human prostaglandin H synthase-2 proteins and their interactions with cyclooxygenase substrates and inhibitors.

Liu W et al.

The Pharmacogenomics Journal, 2011

What genetics tells us about the causes and mechanisms of Parkinson's disease.

Corti O et al.

Physiological Reviews, 2011

Parkinson's disease-associated mutations in α-synuclein and UCH-L1 inhibit the unconventional secretion of UCH-L1.

Konya C et al.

Neurochemistry International, 2011

Ubiquitin carboxyl-terminal esterase L1 (UCHL1) S18Y polymorphism in patients with cataracts.

Rudolph T et al.

Ophthalmic Genetics, 2011

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."