ArticleThe American journal of pathology2009
A defective SERCA1 protein is responsible for congenital pseudomyotonia in Chianina cattle.
Article in The American journal of pathology, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 38 citations in OpenAlex.
- CFTR corrector C17 rescues defective SERCA1 in bovine pseudomyotonia: a potential therapy for Brody myopathy.Human molecular genetics · 2025Article
- Zebrafish as a Model Organism for Research in Rare Genetic Neuromuscular Diseases.International journal of molecular sciences · 2025Review
- TheInternational journal of molecular sciences · 2024Article
- Antitumor Effect of Berberine Analogs in a Canine Mammary Tumor Cell Line and in Zebrafish Reporters via Wnt/β-Catenin and Hippo Pathways.Biomedicines · 2023Article
- Differential Analysis of Gly211Val and Gly286Val Mutations Affecting Sarco(endo)plasmic Reticulum CaInternational journal of molecular sciences · 2022Article
- The 2022 On-site Padua Days on Muscle and Mobility Medicine hosts the University of Florida Institute of Myology and the Wellstone Center, March 30 - April 3, 2022 at the University of Padua and Thermae of Euganean Hills, Padua, Italy: The collection of abstracts.European journal of translational myology · 2022Article
- Sarcoplasmic Reticulum from Horse Gluteal Muscle Is Poised for Enhanced Calcium Transport.Veterinary sciences · 2021Article
- Double-Outlet Right Ventricle in a Chianina Calf.Animals : an open access journal from MDPI · 2021Article
- Paradoxical pseudomyotonia in English Springer and Cocker Spaniels.Journal of veterinary internal medicine · 2020Article
- HDAC Inhibition Improves the Sarcoendoplasmic Reticulum CaInternational journal of molecular sciences · 2018Article
- Dystonia and Paroxysmal Dyskinesias: Under-Recognized Movement Disorders in Domestic Animals? A Comparison with Human Dystonia/Paroxysmal Dyskinesias.Frontiers in veterinary science · 2015Review
- Inhibition of ubiquitin proteasome system rescues the defective sarco(endo)plasmic reticulum Ca2+-ATPase (SERCA1) protein causing Chianina cattle pseudomyotonia.The Journal of biological chemistry · 2014Article
- Microarray gene expression profiling of neural tissues in bovine spastic paresis.BMC veterinary research · 2013Article
- Pseudomyotonia in Romagnola cattle caused by novel ATP2A1 mutations.BMC veterinary research · 2012Article
- Endoplasmic-reticulum calcium depletion and disease.Cold Spring Harbor perspectives in biology · 2011Review
- Analysis of a zebrafish behavioral mutant reveals a dominant mutation in atp2a1/SERCA1.Genesis (New York, N.Y. : 2000) · 2010Article
- Evidence for a new allele at the SERCA1 locus affecting pork meat quality in part through the imbalance of Ca2+ homeostasis.Molecular biology reports · 2010Article
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Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Recently, a muscular disorder defined as "congenital pseudomyotonia" was described in Chianina cattle, one of the most important Italian cattle breeds for quality meat and leather. The clinical phenotype of this disease is characterized by an exercise-induced muscle contracture that prevents animals from performing muscular activities. On the basis of clinical symptoms, Chianina pseudomyotonia appeared related to human Brody's disease, a rare inherited disorder of skeletal muscle function that results from a sarcoplasmic reticulum Ca(2+)-ATPase (SERCA1) deficiency caused by a defect in the ATP2A1 gene that encodes SERCA1. SERCA1 is involved in transporting calcium from the cytosol to the lumen of the sarcoplasmic reticulum. Recently, we identified the genetic defect underlying Chianina cattle pseudomyotonia. A missense mutation in exon 6 of the ATP2A1 gene, leading to an R164H substitution in the SERCA1 protein, was found. In this study, we provide biochemical evidence for a selective deficiency in SERCA1 protein levels in sarcoplasmic reticulum membranes from affected muscles, although mRNA levels are unaffected. The reduction of SERCA1 levels accounts for the reduced Ca(2+)-ATPase activity without any significant change in Ca(2+)-dependency. The loss of SERCA1 is not compensated for by the expression of the SERCA2 isoform. We believe that Chianina cattle pseudomyotonia might, therefore, be the true counterpart of human Brody's disease, and that bovine species might be used as a suitable animal model.
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