ReviewThe Journal of physiology2009
Calsequestrin-1: a new candidate gene for malignant hyperthermia and exertional/environmental heat stroke.
Review in The Journal of physiology, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 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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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
55 citing papers in PubMed, 110 citations in OpenAlex.
- Molecular genetics of skeletal muscle diseases associated with abnormal excitation-contraction coupling.Journal of human genetics · 2026Review
- Review
- Cryo-EM Brings the Mechanisms of Activation, Inactivation, and Inhibition of Ryanodine Receptors into Focus.Advances in experimental medicine and biology · 2026Review
- Heatstroke-Induced Inflammatory Response and Therapeutic Biomarkers.Biomedicines · 2025Review
- Cytosolic CaBiophysical reports · 2023Article
- Critical illness aspects of heatstroke: A hot topic.Journal of the Intensive Care Society · 2023Review
- Single-cell RNAseq provides insight into altered immune cell populations in human fracture nonunions.Journal of orthopaedic research : official publication of the Orthopaedic Research Society · 2023Article
- Article
- High-Fat Diet Impairs Muscle Function and Increases the Risk of Environmental Heatstroke in Mice.International journal of molecular sciences · 2022Article
- Store-Operated CaInternational journal of molecular sciences · 2022Article
- Classic and exertional heatstroke.Nature reviews. Disease primers · 2022Review
- Ablation of Calsequestrin-1, CaFrontiers in physiology · 2022Review
- Article
- Calsequestrin, a key protein in striated muscle health and disease.Journal of muscle research and cell motility · 2021Review
- Metabolomic profiling identifies a novel mechanism for heat stroke‑related acute kidney injury.Molecular medicine reports · 2021Article
- Calsequestrin: a well-known but curious protein in skeletal muscle.Experimental & molecular medicine · 2020Review
- Pre-assembled Ca2+ entry units and constitutively active Ca2+ entry in skeletal muscle of calsequestrin-1 knockout mice.The Journal of general physiology · 2020Article
- Overlapping Mechanisms of Exertional Heat Stroke and Malignant Hyperthermia: Evidence vs. Conjecture.Sports medicine (Auckland, N.Z.) · 2020Review
- Calsequestrin Deletion Facilitates Hippocampal Synaptic Plasticity and Spatial Learning in Post-Natal Development.International journal of molecular sciences · 2020Article
- Review
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
Malignant hyperthermia (MH) and exertional/environmental heat stroke (EHS) in humans present as similar life threatening crises triggered by volatile anaesthetics and strenuous exercise and/or high temperature, respectively. Many families (70-80%) diagnosed with MH susceptibility (MHS), and a few with EHS, are linked to mutations in the gene for the ryanodine receptor type-1 (RyR1), Ca(2+) release channel of the sarcoplasmic reticulum (SR) of skeletal muscle and a key protein in excitation-contraction (EC) coupling. However, mutations in the RyR1 gene are not found in all MH families, suggesting that alternative genes remain to be identified. In our laboratory we have recently characterized a novel knockout model lacking skeletal muscle calsequestrin (CASQ1), a SR Ca(2+)-binding protein that modulates RyR1 function, and investigated whether these mice present a MH/EHS-like phenotype. Ablation of CASQ1 results in remodelling of the EC coupling apparatus and functional changes, which in male mice causes a striking increase in the rate of spontaneous mortality and susceptibility to trigger MH-like lethal episodes in response to halothane and heat stress. The demonstration that ablation of CASQ1 results in MH- and EHS-like lethal episodes validates CASQ1 as a viable candidate gene for linkage analysis in MH and EHS families where mutations in RyR1 are excluded.
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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.