ArticleNeuromuscular disorders : NMD2013
Novel excitation-contraction uncoupled RYR1 mutations in patients with central core disease.
Article in Neuromuscular disorders : NMD, 2013. 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, 27 citations in OpenAlex.
- Correlation of phenotype with genotype and protein structure in RYR1-related disorders.Journal of neurology · 2018Trial
- Dual role of the S5 segment in type 1 ryanodine receptor channel gating.Communications biology · 2024Article
- Three-dimensional perspective on ryanodine receptor mutations causing skeletal and cardiac muscle-related diseases.Current opinion in pharmacology · 2023Review
- Mutations in proteins involved in E-C coupling and SOCE and congenital myopathies.The Journal of general physiology · 2022Review
- Silencing of the CaInternational journal of molecular sciences · 2022Article
- Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study.Acta neuropathologica communications · 2022Article
- A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course.Acta neuropathologica communications · 2021Article
- Article
- Preclinical model systems of ryanodine receptor 1-related myopathies and malignant hyperthermia: a comprehensive scoping review of works published 1990-2019.Orphanet journal of rare diseases · 2020Article
- Cored in the act: the use of models to understand core myopathies.Disease models & mechanisms · 2019Review
- Aging Effects ofG3 (Bethesda, Md.) · 2017Article
- Muscle MRI in pediatrics: clinical, pathological and genetic correlation.Pediatric radiology · 2017Review
- Comparison of pathogenicity prediction tools on missense variants in RYR1 and CACNA1S associated with malignant hyperthermia.British journal of anaesthesia · 2016Article
- The couplonopathies: A comparative approach to a class of diseases of skeletal and cardiac muscle.The Journal of general physiology · 2015Review
- Critical Role of Intracellular RyR1 Calcium Release Channels in Skeletal Muscle Function and Disease.Frontiers in physiology · 2015Review
- Oxidative stress, mitochondrial damage, and cores in muscle from calsequestrin-1 knockout mice.Skeletal muscle · 2015Article
- Functional Characterization of C-terminal Ryanodine Receptor 1 Variants Associated with Central Core Disease or Malignant Hyperthermia.Journal of neuromuscular diseasesArticle
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Authors and funding
10 authors at 4 institutions in 2 countries.
Funding
Abstract
Central core disease, one of the most common congenital myopathies in humans, has been linked to mutations in the RYR1 gene encoding the Ca(2+) release channel of the sarcoplasmic reticulum (RyR1). Functional analyses showed that disease-associated RYR1 mutations led to impairment of skeletal muscle Ca(2+) homeostasis; however, thorough understanding of the molecular mechanisms underlying central core disease and other RyR1-related conditions is still lacking. We screened by sequencing the complete RYR1 transcripts in ten unrelated patients with central core disease and identified five novel, p.M4640R, p.L4647P, p.F4808L, p.D4918N and p.F4941C, and four recurrent mutations. Four of the novel mutations involved amino acid residues that were positioned within putative transmembrane segments of the RyR1. The pathogenic character of the identified mutations was demonstrated by bioinformatic analyses and by the in vitro functional studies in HEK293 cells and RYR1-null (dyspedic) myotubes. Characterization of Ca(2+) channel properties of RyR1s carrying one recurrent and two novel mutations upholds the view that diminished intracellular Ca(2+) release caused by impaired Ca(2+) channel gating and/or Ca(2+) permeability is an important component of central core disease etiology. This study expands the list of functionally characterized disease-associated RyR1 mutations, increasing the value of genetic diagnosis for RyR1-related disorders.
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