ArticleHuman molecular genetics2018
SPEG-deficient skeletal muscles exhibit abnormal triad and defective calcium handling.
Article in Human molecular genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
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Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it, 31 citations in OpenAlex.
- OXPHOS complex deficiency in congenital myopathy: A systematic review.European journal of clinical investigation · 2025Pooled it
- Loss of adenylosuccinate synthetase 1 in mice recapitulates features of ADSS1 myopathy.Human molecular genetics · 2026Article
- Phosphorylation of RYR1 at SerScience signaling · 2025Article
- Reduced voltage-activated Ca2+ release flux in muscle fibers from a rat model of Duchenne dystrophy.The Journal of general physiology · 2025Article
- A comprehensive map of copy number variations in dromedary camels based on whole genome sequence data.Scientific reports · 2024Article
- Integrated multi-omics approach reveals the role of striated muscle preferentially expressed protein kinase in skeletal muscle including its relationship with myospryn complex.Journal of cachexia, sarcopenia and muscle · 2024Article
- DOCK3 regulates normal skeletal muscle regeneration and glucose metabolism.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2023Article
- Speg interactions that regulate the stability of excitation-contraction coupling protein complexes in triads and dyads.Communications biology · 2023Article
- DOCK3 regulates normal skeletal muscle regeneration and glucose metabolism.bioRxiv : the preprint server for biology · 2023Article
- Disrupted T-tubular network accounts for asynchronous calcium release in MTM1-deficient skeletal muscle.The Journal of physiology · 2023Article
- Dynamin-2 reduction rescues the skeletal myopathy of a SPEG-deficient mouse model.JCI insight · 2022Article
- Characterization of a novel zebrafish model of SPEG-related centronuclear myopathy.Disease models & mechanisms · 2022Article
- A Computational Framework to Characterize the Cancer Drug Induced Effect on Aging Using Transcriptomic Data.Frontiers in pharmacology · 2022Article
- SPEG: a key regulator of cardiac calcium homeostasis.Cardiovascular research · 2021Review
- Striated Preferentially Expressed Protein Kinase (SPEG) in Muscle Development, Function, and Disease.International journal of molecular sciences · 2021Review
- Clinical and genetic analysis of a case with centronuclear myopathy caused by SPEG gene mutation: a case report and literature review.BMC pediatrics · 2021Review
- SPEG binds with desmin and its deficiency causes defects in triad and focal adhesion proteins.Human molecular genetics · 2021Article
- Striated Preferentially Expressed Protein Kinase (SPEG)-Deficient Skeletal Muscles Display Fewer Satellite Cells with Reduced Proliferation and Delayed Differentiation.The American journal of pathology · 2020Article
- Novel SPEG variant cause centronuclear myopathy in China.Journal of clinical laboratory analysis · 2020Article
- Striated muscle-specific serine/threonine-protein kinase beta segregates with high versus low responsiveness to endurance exercise training.Physiological genomics · 2020Article
Corrections and comments
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Authors and funding
12 authors at 8 institutions in 4 countries.
Funding
Abstract
Centronuclear myopathies (CNM) are a subtype of congenital myopathies (CM) characterized by skeletal muscle weakness and an increase in the number of central myonuclei. We have previously identified three CNM probands, two with associated dilated cardiomyopathy, carrying striated preferentially expressed gene (SPEG) mutations. Currently, the role of SPEG in skeletal muscle function is unclear as constitutive SPEG-deficient mice developed severe dilated cardiomyopathy and died in utero. We have generated a conditional Speg-KO mouse model and excised Speg by crosses with striated muscle-specific cre-expressing mice (MCK-Cre). The resulting litters had a delay in Speg excision consistent with cre expression starting in early postnatal life and, therefore, an extended lifespan up to a few months. KO mice were significantly smaller and weaker than their littermate-matched controls. Histopathological skeletal muscle analysis revealed smaller myofibers, marked fiber-size variability, and poor integrity and low number of triads. Further, SPEG-deficient muscle fibers were weaker by physiological and in vitro studies and exhibited abnormal Ca2+ handling and excitation-contraction (E-C) coupling. Overall, SPEG deficiency in skeletal muscle is associated with fewer and abnormal triads, and defective calcium handling and excitation-contraction coupling, suggesting that therapies targeting calcium signaling may be beneficial in such patients.
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