ArticleGenetics2005
Carbonic anhydrase-related protein VIII deficiency is associated with a distinctive lifelong gait disorder in waddles mice.
Article in Genetics, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 66 papers.
What it found
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Who cites it
66 citing papers in PubMed, 130 citations in OpenAlex.
- Carbonic anhydrase VIII regulates IP3R1-dependent CaScience advances · 2026Article
- Purkinje cell intrinsic activity shapes cerebellar development and function.Nature communications · 2026Article
- Cerebellar deep brain stimulation rescues Purkinje cell mitochondrial density in a genetic mouse model of cerebellar ataxia.Brain research bulletin · 2026Article
- Applications of Carbonic Anhydrase Inhibitors in Neurological Disorders, Mechanisms and Therapeutic Potential.Sub-cellular biochemistry · 2026Review
- Unveiling Carbonic Anhydrase VIII, X, XI Expression in Cancer and Neurological Diseases Through Integrated Bioinformatics Approaches.Bioinformatics and biology insights · 2026Article
- Impact of Manganese on Neuronal Function: An Exploratory Multi-Omics Study on Ferroalloy Workers in Brescia, Italy.Brain sciences · 2025Article
- Article
- Cerebellar dysfunction in rodent models with dystonia, tremor, and ataxia.Dystonia (Lausanne, Switzerland) · 2023Article
- Article
- Altered glucose metabolism and its association with carbonic anhydrase 8 in Machado-Joseph Disease.Metabolic brain disease · 2022Article
- Roles of Carbonic Anhydrases and Carbonic Anhydrase Related Proteins in Zebrafish.International journal of molecular sciences · 2022Review
- TTLL1 and TTLL4 polyglutamylases are required for the neurodegenerative phenotypes in pcd mice.PLoS genetics · 2022Article
- Chromatin architecture at susceptible gene loci in cerebellar Purkinje cells characterizes DNA damage-induced neurodegeneration.Science advances · 2021Article
- Expression and Functional Study of Single Mutations of Carbonic Anhydrase 8 in Neuronal Cells.Cellular and molecular neurobiology · 2021Article
- Neuromodulation of the cerebellum rescues movement in a mouse model of ataxia.Nature communications · 2021Article
- Rare CACNA1A mutations leading to congenital ataxia.Pflugers Archiv : European journal of physiology · 2020Review
- Structural Characterization of Carbonic Anhydrase VIII and Effects of Missense Single Nucleotide Variations to Protein Structure and Function.International journal of molecular sciences · 2020Article
- Current Opinions and Consensus for Studying Tremor in Animal Models.Cerebellum (London, England) · 2019Review
- Catalytically inactive carbonic anhydrase-related proteins enhance transport of lactate by MCT1.FEBS open bio · 2019Article
- Article
6 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 5 institutions in 1 country.
Funding
Abstract
The waddles (wdl) mouse is a unique animal model that exhibits ataxia and appendicular dystonia without pathological abnormalities of either the central or the peripheral nervous systems. A 19-bp deletion in exon 8 of the carbonic anhydrase-related protein VIII gene (Car8) was detected by high-throughput temperature-gradient capillary electrophoresis heteroduplex analysis of PCR amplicons of genes and ESTs within the wdl locus on mouse chromosome 4. Although regarded as a member of the carbonic anhydrase gene family, the encoded protein (CAR8) has no reported enzymatic activity. In normal mice, CAR8 is abundantly expressed in cerebellar Purkinje cells as well as in several other cell groups. Compatible with nonsense-mediated decay of mutant transcripts, CAR8 is virtually absent in mice homozygous for the wdl mutation. These data indicate that the wdl mouse is a Car8 null mutant and that CAR8 plays a central role in motor control.
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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.