ArticlePLoS genetics2009
The ataxia (axJ) mutation causes abnormal GABAA receptor turnover in mice.
Article in PLoS genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
27 citing papers in PubMed, 45 citations in OpenAlex.
- Article
- Dysregulation of zebrin-II cell subtypes in the cerebellum is a shared feature across polyglutamine ataxia mouse models and patients.Science translational medicine · 2024Article
- Biallelic USP14 variants cause a syndromic neurodevelopmental disorder.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Article
- Purkinje-Enriched snRNA-seq in SCA7 Cerebellum Reveals Zebrin Identity Loss as a Central Feature of Polyglutamine Ataxias.bioRxiv : the preprint server for biology · 2023Article
- Deubiquitinases in Neurodegeneration.Cells · 2022Review
- USP14: Structure, Function, and Target Inhibition.Frontiers in pharmacology · 2021Review
- Critical Roles of Deubiquitinating Enzymes in the Nervous System and Neurodegenerative Disorders.Molecules and cells · 2020Review
- Dynamic Interaction of USP14 with the Chaperone HSC70 Mediates Crosstalk between the Proteasome, ER Signaling, and Autophagy.iScience · 2020Article
- Cerebellar Development and Circuit Maturation: A Common Framework for Spinocerebellar Ataxias.Frontiers in neuroscience · 2020Review
- USP8 Deubiquitinates the Leptin Receptor and Is Necessary for Leptin-Mediated Synapse Formation.Endocrinology · 2019Article
- Post-endocytotic Deubiquitination and Degradation of the Metabotropic γ-Aminobutyric Acid Receptor by the Ubiquitin-specific Protease 14.The Journal of biological chemistry · 2016Article
- Ubiquitin-specific protease 14 regulates c-Jun N-terminal kinase signaling at the neuromuscular junction.Molecular neurodegeneration · 2015Article
- α2δ3 is essential for normal structure and function of auditory nerve synapses and is a novel candidate for auditory processing disorders.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2014Article
- An optimal ubiquitin-proteasome pathway in the nervous system: the role of deubiquitinating enzymes.Frontiers in molecular neuroscience · 2014Review
- The ubiquitin-specific protease 14 (USP14) is a critical regulator of long-term memory formation.Learning & memory (Cold Spring Harbor, N.Y.) · 2013Article
- Overexpression of USP14 protease reduces I-κB protein levels and increases cytokine release in lung epithelial cells.The Journal of biological chemistry · 2013Article
- A novel interaction between aging and ER overload in a protein conformational dementia.Genetics · 2013Article
- Genetic background alters the severity and onset of neuromuscular disease caused by the loss of ubiquitin-specific protease 14 (usp14).PloS one · 2013Article
- Role of the ubiquitin-proteasome system in nervous system function and disease: using C. elegans as a dissecting tool.Cellular and molecular life sciences : CMLS · 2012Review
- Characterization of axo-axonic synapses in the piriform cortex of Mus musculus.The Journal of comparative neurology · 2012Article
Corrections and comments
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Authors and funding
11 authors at 5 institutions in 3 countries.
Funding
Abstract
Ataxia represents a pathological coordination failure that often involves functional disturbances in cerebellar circuits. Purkinje cells (PCs) characterize the only output neurons of the cerebellar cortex and critically participate in regulating motor coordination. Although different genetic mutations are known that cause ataxia, little is known about the underlying cellular mechanisms. Here we show that a mutated ax(J) gene locus, encoding the ubiquitin-specific protease 14 (Usp14), negatively influences synaptic receptor turnover. Ax(J) mouse mutants, characterized by cerebellar ataxia, display both increased GABA(A) receptor (GABA(A)R) levels at PC surface membranes accompanied by enlarged IPSCs. Accordingly, we identify physical interaction of Usp14 and the GABA(A)R alpha1 subunit. Although other currently unknown changes might be involved, our data show that ubiquitin-dependent GABA(A)R turnover at cerebellar synapses contributes to ax(J)-mediated behavioural impairment.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.