CACNA1S

Summary

Gene Symbol: CACNA1S
Description: calcium voltage-gated channel subunit alpha1 S
Alias: CACNL1A3, CCHL1A3, Cav1.1, HOKPP, HOKPP1, MHS5, TTPP1, hypoPP, voltage-dependent L-type calcium channel subunit alpha-1S, calcium channel, L type, alpha 1 polypeptide, isoform 3 (skeletal muscle, hypokalemic periodic paralysis), calcium channel, voltage-dependent, L type, alpha 1S subunit, dihydropyridine receptor alpha 1 subunit, dihydropyridine-sensitive L-type calcium channel alpha-1 subunit, voltage-gated calcium channel subunit alpha Cav1.1
Species: human
Products:     CACNA1S

Top Publications

  1. Jurkat Rott K, Lehmann Horn F, Elbaz A, Heine R, Gregg R, Hogan K, et al. A calcium channel mutation causing hypokalemic periodic paralysis. Hum Mol Genet. 1994;3:1415-9 pubmed
    ..An autosomal dominant muscle disease, hypokalemic periodic paralysis (HypoPP), has been mapped to the same region (2)...
  2. Monnier N, Procaccio V, Stieglitz P, Lunardi J. Malignant-hyperthermia susceptibility is associated with a mutation of the alpha 1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle. Am J Hum Genet. 1997;60:1316-25 pubmed
    ..In this study we show that the CACNL1A3 gene encoding the alpha 1-subunit of the human skeletal muscle dihydropyridine-sensitive L-type voltage-dependent ..
  3. Elbaz A, Vale Santos J, Jurkat Rott K, Lapie P, Ophoff R, Bady B, et al. Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNL1A3): genotype/phenotype correlations for two predominant mutations and evidence for the absence of a founder effect in 16 caucasian families. Am J Hum Genet. 1995;56:374-80 pubmed
    ..to chromosome 1q31-32, in an interval where the alpha 1 subunit of the dihydropyridine receptor calcium channel (CACNL1A3) also maps...
  4. Boerman R, Ophoff R, Links T, van Eijk R, Sandkuijl L, Elbaz A, et al. Mutation in DHP receptor alpha 1 subunit (CACLN1A3) gene in a Dutch family with hypokalaemic periodic paralysis. J Med Genet. 1995;32:44-7 pubmed
    Hypokalaemic periodic paralysis (HypoPP) is characterised by transient attacks of muscle weakness of varying duration and severity accompanied by a drop in serum potassium concentration during the attacks...
  5. Robinson R, Monnier N, Wolz W, Jung M, Reis A, Nuernberg G, et al. A genome wide search for susceptibility loci in three European malignant hyperthermia pedigrees. Hum Mol Genet. 1997;6:953-61 pubmed
    ..One of these locates to chromosome 1q, the site of a candidate gene, CACNL1A3, encoding the alpha-subunit of the dihydropyridine receptor...
  6. Carsana A, Fortunato G, De Sarno C, Brancadoro V, Salvatore F. Identification of new polymorphisms in the CACNA1S gene. Clin Chem Lab Med. 2003;41:20-2 pubmed
    We identified four novel polymorphisms in the CACNA1S gene that encodes the alpha1-subunit of the dihydropyridine receptor...
  7. Kim J, Lee K, Hur J. A Korean family of hypokalemic periodic paralysis with mutation in a voltage-gated calcium channel (R1239G). J Korean Med Sci. 2005;20:162-5 pubmed
    ..Genetic examination identified a nucleotide 3705 C to G mutation in exon 30 of the calcium channel gene, CACNA1S. This mutation predicts a codon change from arginine to glycine at the amino acid position #1239 (R1239G)...
  8. Wang Q, Liu M, Xu C, Tang Z, Liao Y, Du R, et al. Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a Chinese family. J Mol Med (Berl). 2005;83:203-8 pubmed
    ..The skeletal muscle calcium channel alpha-subunit gene CACNA1S is a major disease-causing gene for HypoPP, however, only three specific HypoPP-causing mutations, Arg528His, ..
  9. Levano S, Vukcevic M, Singer M, Matter A, Treves S, Urwyler A, et al. Increasing the number of diagnostic mutations in malignant hyperthermia. Hum Mutat. 2009;30:590-8 pubmed publisher
    ..on ryanodine receptor type 1 (RYR1) gene and alpha1 subunit of the dihydropyridine receptor (DHPR) (CACNA1S) gene have improved the procedures associated with MH diagnosis...

More Information

Publications135 found, 100 shown here

  1. Carpenter D, Ringrose C, Leo V, Morris A, Robinson R, Halsall P, et al. The role of CACNA1S in predisposition to malignant hyperthermia. BMC Med Genet. 2009;10:104 pubmed publisher
    ..This study focuses on the gene CACNA1S which encodes the alpha1 subunit of the DHPR, in order to establish whether CACNA1S plays a major role in MH ..
  2. Ptacek L, Tawil R, Griggs R, Engel A, Layzer R, Kwiecinski H, et al. Dihydropyridine receptor mutations cause hypokalemic periodic paralysis. Cell. 1994;77:863-8 pubmed
    ..In one kindred, the mutation arose de novo. Taken together, these data establish this DHP receptor as the hypoKPP gene. We are unaware of any other human diseases presently known to result from DHP receptor mutations. ..
  3. Ng W, Lui K, Thai A, Cheah J. Absence of ion channels CACN1AS and SCN4A mutations in thyrotoxic hypokalemic periodic paralysis. Thyroid. 2004;14:187-90 pubmed
    ..These results suggest that despite close similarities between TPP and hypoKPP, a likely genetic basis for TPP does not involve the same gene mutations associated with hypoKPP. ..
  4. Lin S, Hsu Y, Cheng N, Kao M. Skeletal muscle dihydropyridine-sensitive calcium channel (CACNA1S) gene mutations in chinese patients with hypokalemic periodic paralysis. Am J Med Sci. 2005;329:66-70 pubmed
  5. Wada T, Ichihashi Y, Suzuki E, Kosuge Y, Ishige K, Uchiyama T, et al. Deletion of Bmal1 Prevents Diet-Induced Ectopic Fat Accumulation by Controlling Oxidative Capacity in the Skeletal Muscle. Int J Mol Sci. 2018;19: pubmed publisher
    ..The mechanism includes the regulation of Cacna1s expression, followed by the activation of calcium-nuclear factor of activated T cells (NFAT) axis...
  6. Dhindwal S, Lobo J, Cabra V, Santiago D, Nayak A, Dryden K, et al. A cryo-EM-based model of phosphorylation- and FKBP12.6-mediated allosterism of the cardiac ryanodine receptor. Sci Signal. 2017;10: pubmed publisher
    ..These results help to decipher the molecular basis of the different mechanisms of activation and oligomerization of the RyR isoforms and could be extended to RyR complexes in other tissues. ..
  7. Pironti G, Ivarsson N, Yang J, Farinotti A, Jonsson W, Zhang S, et al. Dietary nitrate improves cardiac contractility via enhanced cellular Ca²? signaling. Basic Res Cardiol. 2016;111:34 pubmed publisher
    ..Our observation shows that dietary nitrate impacts cardiac function and adds understanding to inorganic nitrate as a physiological modulator. ..
  8. Chin E, Chen D, Bobyk K, Mázala D. Perturbations in intracellular Ca2+ handling in skeletal muscle in the G93A*SOD1 mouse model of amyotrophic lateral sclerosis. Am J Physiol Cell Physiol. 2014;307:C1031-8 pubmed publisher
    ..These data suggest that elevations in cellular Ca(2+) could contribute to muscle weakness during disease progression in ALS mice. ..
  9. Thomas M, Vigna C, Betik A, Tupling A, Hepple R. Cardiac calcium pump inactivation and nitrosylation in senescent rat myocardium are not attenuated by long-term treadmill training. Exp Gerontol. 2011;46:803-10 pubmed publisher
  10. Delacroix C, Hyzewicz J, Lemaitre M, Friguet B, Li Z, Klein A, et al. Improvement of Dystrophic Muscle Fragility by Short-Term Voluntary Exercise through Activation of Calcineurin Pathway in mdx Mice. Am J Pathol. 2018;188:2662-2673 pubmed publisher
    ..Cyclosporin also prevented the running-induced changes in expression of genes involved in excitability (Scn4a and Cacna1s) and slower contractile phenotype (Myh2 and Tnni1) in TA muscle...
  11. Mestre T, Manole A, Macdonald H, Riazi S, Kraeva N, Hanna M, et al. A novel KCNA1 mutation in a family with episodic ataxia and malignant hyperthermia. Neurogenetics. 2016;17:245-249 pubmed
    ..No mutations were found in the known malignant hyperthermia genes RYR1 or CACNA1S. The Phe249Cys-Kv1...
  12. Llano Diez M, Cheng A, Jonsson W, Ivarsson N, Westerblad H, Sun V, et al. Impaired Ca(2+) release contributes to muscle weakness in a rat model of critical illness myopathy. Crit Care. 2016;20:254 pubmed publisher
    ..These results suggest that impaired SR Ca(2+) release contributes to the muscle weakness seen in patients in ICU. ..
  13. Omori Y, Kitamura T, Yoshida S, Kuwahara R, Chaya T, Irie S, et al. Mef2d is essential for the maturation and integrity of retinal photoreceptor and bipolar cells. Genes Cells. 2015;20:408-26 pubmed publisher
    ..the expression of various genes in photoreceptor and bipolar cells, including cone arrestin, Guca1b, Pde6h and Cacna1s, which encode outer segment and synapse proteins...
  14. Horvath D, Murphy R, Mollica J, Hayes A, Goodman C. The effect of taurine and β-alanine supplementation on taurine transporter protein and fatigue resistance in skeletal muscle from mdx mice. Amino Acids. 2016;48:2635-2645 pubmed
  15. Grasset E, Bertero T, Bozec A, Friard J, Bourget I, Pisano S, et al. Matrix Stiffening and EGFR Cooperate to Promote the Collective Invasion of Cancer Cells. Cancer Res. 2018;78:5229-5242 pubmed publisher
    ..b>Graphical Abstract: http://cancerres.aacrjournals.org/content/canres/78/18/5229/F1.large.jpg Cancer Res; 78(18); 5229-42. ©2018 AACR. ..
  16. Cannon S. Channelopathies of skeletal muscle excitability. Compr Physiol. 2015;5:761-90 pubmed publisher
    ..4). This review provides a synthesis of the mechanistic connections between functional defects of mutant ion channels, their impact on muscle excitability, how these changes cause clinical phenotypes, and approaches toward therapeutics. ..
  17. Vivante A, Ityel H, Pode Shakked B, Chen J, Shril S, van der Ven A, et al. Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases. Pediatr Nephrol. 2017;32:2273-2282 pubmed publisher
    ..of glycogen metabolism (PFKM and PGAM2), (3) disorders of abnormal skeletal muscle relaxation and contraction (CACNA1S, MYH3, RYR1 and SCN4A), and (4) disorders of purine metabolism (AHCY)...
  18. Dixon D, Choi J, El Ghazali A, Park S, Roos K, Jordan M, et al. Loss of muscleblind-like 1 results in cardiac pathology and persistence of embryonic splice isoforms. Sci Rep. 2015;5:9042 pubmed publisher
    ..previously implicated in DM1, regulating sodium and calcium currents, Scn5a, Junctin, Junctate, Atp2a1, Atp11a, Cacna1s, Ryr2, intra and inter cellular transport, Clta, Stx2, Tjp1, cell survival, Capn3, Sirt2, Csda, sarcomere and ..
  19. Clarke M, Vanderburg C, Bamman M, Caldwell R, Feeback D. In situ localization of cholesterol in skeletal muscle by use of a monoclonal antibody. J Appl Physiol (1985). 2000;89:731-41 pubmed
    ..The availability of this reagent and its ability to spatially localize cholesterol in situ may provide a greater understanding of the relationship between membrane cholesterol content and transmembrane signaling in skeletal muscle...
  20. Tuluc P, Yarov Yarovoy V, Benedetti B, Flucher B. Molecular Interactions in the Voltage Sensor Controlling Gating Properties of CaV Calcium Channels. Structure. 2016;24:261-71 pubmed publisher
    ..These interactions facilitate the final transition into the activated state and critically determine the voltage sensitivity and current amplitude of these CaV channels. ..
  21. Watanabe A, Takayama Watanabe E. In silico identification of the genes for sperm-egg interaction in the internal fertilization of the newt Cynops pyrrhogaster. Int J Dev Biol. 2014;58:873-9 pubmed publisher
    ..These results indicate that the de novo assembled RNAseq is a powerful tool allowing analysis of the specific sperm-egg interactions in C. pyrrhogaster. ..
  22. Donner I, Katainen R, Sipilä L, Aavikko M, Pukkala E, Aaltonen L. Germline mutations in young non-smoking women with lung adenocarcinoma. Lung Cancer. 2018;122:76-82 pubmed publisher
    ..Fifteen genes displayed potentially pathogenic mutations in at least two patients: ABCC10, ATP7B, CACNA1S, CFTR, CLIP4, COL6A1, COL6A6, GCN1, GJB6, RYR1, SCN7A, SEC24A, SP100, TTN and USH2A...
  23. Giudice J, Loehr J, Rodney G, Cooper T. Alternative Splicing of Four Trafficking Genes Regulates Myofiber Structure and Skeletal Muscle Physiology. Cell Rep. 2016;17:1923-1933 pubmed publisher
    ..The results demonstrate a previously unrecognized role for trafficking functions in adult muscle tissue homeostasis and a specific requirement for the adult splice variants. ..
  24. Chalissery A, Munteanu T, Langan Y, Brett F, Redmond J. Diverse phenotype of hypokalaemic periodic paralysis within a family. Pract Neurol. 2017;: pubmed publisher
    ..We identified a heterozygous pathogenic mutation in calcium ion channel (CACNA1S:c.1583G>A?p.Arg528His) causing hypokalaemic periodic paralysis...
  25. Matthews E, Neuwirth C, Jaffer F, Scalco R, Fialho D, Parton M, et al. Atypical periodic paralysis and myalgia: A novel RYR1 phenotype. Neurology. 2018;90:e412-e418 pubmed publisher
    ..of RYR1-related disorders should be sought in genetically undefined PP cases and that RYR1 gene testing be considered in those in whom mutations in SCN4A, CACNA1S, and KCNJ2 have already been excluded.
  26. Ostrovidov S, Ebrahimi M, Bae H, Nguyen H, Salehi S, Kim S, et al. Gelatin-Polyaniline Composite Nanofibers Enhanced Excitation-Contraction Coupling System Maturation in Myotubes. ACS Appl Mater Interfaces. 2017;: pubmed publisher
    ..Such composite material scaffolds combining topographical and electrically conductive cues may be useful to direct skeletal muscle cell organization and to improve cellular maturation, functionality and tissue formation...
  27. Campiglio M, Kaplan M, Flucher B. STAC3 incorporation into skeletal muscle triads occurs independent of the dihydropyridine receptor. J Cell Physiol. 2018;233:9045-9051 pubmed publisher
    ..This finding demonstrates that STAC3 interacts with additional triad proteins and is consistent with its proposed role in directly or indirectly linking the DHPR with the RyR1. ..
  28. Canato M, Capitanio P, Reggiani C, Cancellara L. The disorders of the calcium release unit of skeletal muscles: what have we learned from mouse models?. J Muscle Res Cell Motil. 2015;36:61-9 pubmed publisher
  29. Mahalingam M, Fessenden J. Methods for labeling skeletal muscle ion channels site-specifically with fluorophores suitable for FRET-based structural analysis. Methods Enzymol. 2015;556:455-74 pubmed publisher
  30. Rosenberg H, Pollock N, Schiemann A, Bulger T, Stowell K. Malignant hyperthermia: a review. Orphanet J Rare Dis. 2015;10:93 pubmed publisher
    ..1, and at least 34 are causal for MH. Less than 1 % of variants have been found in CACNA1S but not all of these are causal...
  31. Miller D, Daly C, Aboelsaod E, Gardner L, Hobson S, Riasat K, et al. Genetic epidemiology of malignant hyperthermia in the UK. Br J Anaesth. 2018;121:944-952 pubmed publisher
    ..included one individual from each positive family tested in the UK MH Unit since 1971 to detect variants in RYR1, CACNA1S, or STAC3...
  32. Antony C, Mehto S, Tiwari B, Singh Y, Natarajan K. Regulation of L-type Voltage Gated Calcium Channel CACNA1S in Macrophages upon Mycobacterium tuberculosis Infection. PLoS ONE. 2015;10:e0124263 pubmed publisher
    ..In this report, we investigated mechanisms and key players that regulate the surface expression of VGCC-CACNA1S by Rv2463 and M. tb infection in macrophages...
  33. Kwon M, Park C, Choi K, Ahnn J, Kim J, Eom S, et al. Calreticulin couples calcium release and calcium influx in integrin-mediated calcium signaling. Mol Biol Cell. 2000;11:1433-43 pubmed
    ..These findings suggest that calreticulin serves as a cytosolic activator of integrin and a signal transducer between integrins and Ca(2+) channels on the cell surface. ..
  34. Lopez R, Mosca B, Treves S, Maj M, Bergamelli L, Calderón J, et al. Raptor ablation in skeletal muscle decreases Cav1.1 expression and affects the function of the excitation-contraction coupling supramolecular complex. Biochem J. 2015;466:123-35 pubmed publisher
    ..The present study shows that the protein composition and function of the molecular machinery involved in skeletal muscle excitation-contraction (E-C) coupling is affected by mTORC1 signalling. ..
  35. Wu J, Yan Z, Li Z, Yan C, Lu S, Dong M, et al. Structure of the voltage-gated calcium channel Cav1.1 complex. Science. 2015;350:aad2395 pubmed publisher
    ..The structure reveals the architecture of a prototypical eukaryotic Ca(v) channel and provides a framework for understanding the function and disease mechanisms of Ca(v) and Na(v) channels. ..
  36. Ke T, Gomez C, Mateus H, Castano J, Wang Q. Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a South American family. J Hum Genet. 2009;54:660-4 pubmed publisher
    ..A major disease-causing gene for HypoPP has been identified as CACNA1S, which encodes the skeletal muscle calcium channel alpha-subunit with four transmembrane domains (I-IV), each ..
  37. Lee C, Dagnino Acosta A, Yarotskyy V, Hanna A, Lyfenko A, Knoblauch M, et al. Ca(2+) permeation and/or binding to CaV1.1 fine-tunes skeletal muscle Ca(2+) signaling to sustain muscle function. Skelet Muscle. 2015;5:4 pubmed publisher
    ..While not essential for excitation-contraction coupling, Ca(2+) binding and/or permeation via the CaV1.1 pore plays an important modulatory role in muscle performance. ..
  38. Zhang R, Pessah I. Divergent Mechanisms Leading to Signaling Dysfunction in Embryonic Muscle by Bisphenol A and Tetrabromobisphenol A. Mol Pharmacol. 2017;91:428-436 pubmed publisher
    ..BPA and TBBPA both interfere with skeletal muscle function through divergent mechanisms that impair excitation-contraction coupling and may be exemplary of their adverse outcomes in other muscle types. ..
  39. Larach M, Brandom B, Allen G, Gronert G, Lehman E. Malignant hyperthermia deaths related to inadequate temperature monitoring, 2007-2012: a report from the North American malignant hyperthermia registry of the malignant hyperthermia association of the United States. Anesth Analg. 2014;119:1359-66 pubmed publisher
    ..resuscitation, MH complications, survival, and reported molecular genetic DNA analysis of RYR1 and CACNA1S. A one-sided Cochran-Armitage test for proportions evaluated associations between mode of monitoring and ..
  40. Hu H, Wang Z, Wei R, Fan G, Wang Q, Zhang K, et al. The molecular architecture of dihydropyrindine receptor/L-type Ca2+ channel complex. Sci Rep. 2015;5:8370 pubmed publisher
    ..Furthermore, this structure provides structural insights into the key elements of DHPR involved in physical coupling with the RyR/Ca(2+) release channel and shed light onto the mechanism of excitation-contraction coupling. ..
  41. Li S, Wang Y, Zhao H, He Y, Li J, Jiang G, et al. NF-?B-mediated inflammation correlates with calcium overload under arsenic trioxide-induced myocardial damage in Gallus gallus. Chemosphere. 2017;185:618-627 pubmed publisher
    ..TRPC3, STIM1, ORAI1 and pro-inflammatory genes, while the mRNA levels of ITPR1, ITPR2, RyR1, RyR3, SERCA, SLC8A1, CACNA1S and interleukin-10 were decreased (P < 0...
  42. Wu F, Quiñonez M, DiFranco M, Cannon S. Stac3 enhances expression of human CaV1.1 in Xenopus oocytes and reveals gating pore currents in HypoPP mutant channels. J Gen Physiol. 2018;: pubmed publisher
    ..the L-type Ca2+ channel in skeletal muscle, are an established cause of hypokalemic periodic paralysis (HypoPP)...
  43. Fichna J, Macias A, Piechota M, Korostyński M, Potulska Chromik A, Redowicz M, et al. Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients. Hum Genomics. 2018;12:34 pubmed publisher
    ..In three patients, mutations in two genes were suggested as the joint cause of the disease (CAPN3+MYH7, COL6A3+CACNA1S, DYSF+MYH7)...
  44. Zhang G, GU T, Guan X, Sun X, Jiang D, Tang R, et al. Delayed enrichment for c-kit and inducing cardiac differentiation attenuated protective effects of BMSCs' transplantation in pig model of acute myocardial ischemia. Cardiovasc Ther. 2015;33:184-92 pubmed publisher
  45. Beqollari D, Romberg C, Dobrowolny G, Martini M, Voss A, Musaro A, et al. Progressive impairment of CaV1.1 function in the skeletal muscle of mice expressing a mutant type 1 Cu/Zn superoxide dismutase (G93A) linked to amyotrophic lateral sclerosis. Skelet Muscle. 2016;6:24 pubmed publisher
    ..1 function in ALS muscle independently of innervation status. ..
  46. Ghovanloo M, Abdelsayed M, Peters C, Ruben P. A Mixed Periodic Paralysis & Myotonia Mutant, P1158S, Imparts pH-Sensitivity in Skeletal Muscle Voltage-gated Sodium Channels. Sci Rep. 2018;8:6304 pubmed publisher
    ..One sub-type of periodic paralysis, known as hypokalemic periodic paralysis (hypoPP), is associated with low potassium levels...
  47. Matza D, Badou A, Klemic K, Stein J, Govindarajulu U, NADLER M, et al. T Cell Receptor Mediated Calcium Entry Requires Alternatively Spliced Cav1.1 Channels. PLoS ONE. 2016;11:e0147379 pubmed publisher
    ..Knockdown of Cav1.1 channels in T cells abrogated calcium entry after TCR stimulation, suggesting that Cav1.1 channels are controlled by TCR signaling. ..
  48. Iles D, Segers B, Olde Weghuis D, Suijkerbuijk R, Mikala G, Schwartz A, et al. Refined localization of the alpha 1-subunit of the skeletal muscle L-type voltage-dependent calcium channel (CACNL1A3) to human chromosome 1q32 by in situ hybridization. Genomics. 1994;19:561-3 pubmed
    ..sequenced a cosmid clone containing the human skeletal muscle L-type voltage-dependent calcium channel gene (CACNL1A3)...
  49. Polster A, Nelson B, Olson E, Beam K. Stac3 has a direct role in skeletal muscle-type excitation-contraction coupling that is disrupted by a myopathy-causing mutation. Proc Natl Acad Sci U S A. 2016;113:10986-91 pubmed publisher
    ..We conclude that membrane trafficking of CaV1.1 is facilitated by, but does not require, Stac3, and that Stac3 is directly involved in conformational coupling between CaV1.1 and RyR1. ..
  50. Hu S, Shen Y, Gong J, Yang Y. Effect of sophoridine on Ca²⁺ induced Ca²⁺ release during heart failure. Physiol Res. 2016;65:43-52 pubmed
    ..Our results suggest that sophoridine could improve heart failure by ameliorating cardiac Ca(2+) induced Ca(2+) transients, and that this amelioration is associated with upregulation of DHPR. ..
  51. Song I, Sung C, Chen C, Cheng C, Yang S, Chou Y, et al. Novel susceptibility gene for nonfamilial hypokalemic periodic paralysis. Neurology. 2016;86:1190-8 pubmed publisher
    ..We enrolled patients with nonfamilial hypoKPP not carrying mutations in CACNA1S, SCN4A, KCNJ18, or KCNJ2 and conducted genome-wide association analyses comparing 77 patients with TPP and 32 ..
  52. Kutchukian C, Szentesi P, Allard B, Trochet D, Beuvin M, Berthier C, et al. Impaired excitation-contraction coupling in muscle fibres from the dynamin2R465W mouse model of centronuclear myopathy. J Physiol. 2017;595:7369-7382 pubmed publisher
    ..Overall, the results of the present study demonstrate that Ca2+ signalling and EC coupling exhibit a number of dysfunctions likely contributing to muscle weakness in DNM2-related AD-CNM. ..
  53. Hogan K, Gregg R, Powers P. The structure of the gene encoding the human skeletal muscle alpha 1 subunit of the dihydropyridine-sensitive L-type calcium channel (CACNL1A3). Genomics. 1996;31:392-4 pubmed
    The structure of the gene encoding the human skeletal muscle alpha 1 subunit (CACNL1A3) of the dihydropyridine-sensitive voltage-dependent calcium channel was determined by isolation of overlapping genomic DNA clones from human cosmid, ..
  54. Bhattacharya D, Mehle A, Kamp T, Balijepalli R. Intramolecular ex vivo Fluorescence Resonance Energy Transfer (FRET) of Dihydropyridine Receptor (DHPR) β1a Subunit Reveals Conformational Change Induced by RYR1 in Mouse Skeletal Myotubes. PLoS ONE. 2015;10:e0131399 pubmed publisher
    ..The present study reveals that the C-terminal of the β1a subunit changes conformation in the presence of RyR1 consistent with an interaction between the C-terminal of β1a and RyR1 in resting myotubes. ..
  55. Bannister R, Sheridan D, Beam K. Distinct Components of Retrograde Ca(V)1.1-RyR1 Coupling Revealed by a Lethal Mutation in RyR1. Biophys J. 2016;110:912-21 pubmed publisher
    ..1. Moreover, we propose that retrograde coupling has two distinct and separable components that are dependent on different structural elements of RyR1. ..
  56. Allard B. From excitation to intracellular Ca2+ movements in skeletal muscle: Basic aspects and related clinical disorders. Neuromuscul Disord. 2018;28:394-401 pubmed publisher
  57. Sekulic Jablanovic M, Palmowski Wolfe A, Zorzato F, Treves S. Characterization of excitation-contraction coupling components in human extraocular muscles. Biochem J. 2015;466:29-36 pubmed publisher
    ..These findings support the hypothesis that EOMs have a unique mode of calcium handling. ..
  58. Guo M, Zhang G, Ma S, Xu T, Peng Y. [Screening of genetic mutations in a Chinese pedigree affected with hypokalemic periodic paralysis]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018;35:74-77 pubmed publisher
    ..METHODS The proband and nine family members were enrolled for the analysis of CACNA1S and SCN4A gene mutations. Genomic DNA was extracted from peripheral blood samples...
  59. Mannikko R, Shenkarev Z, Thor M, Berkut A, Myshkin M, Paramonov A, et al. Spider toxin inhibits gating pore currents underlying periodic paralysis. Proc Natl Acad Sci U S A. 2018;115:4495-4500 pubmed publisher
    ..4 underlie hypokalemic periodic paralysis (HypoPP) type 2. Gating modifier toxins target ion channels by modifying the function of the VSDs...
  60. Niu J, Yang W, Yue D, Inoue T, Ben Johny M. Duplex signaling by CaM and Stac3 enhances CaV1.1 function and provides insights into congenital myopathy. J Gen Physiol. 2018;150:1145-1161 pubmed publisher
    ..1 function via duplex mechanisms. Our work also furnishes insights into the pathophysiology of stac3-associated congenital myopathy and reveals novel avenues for pharmacological intervention. ..
  61. Yang B, Yang Y, Tu W, Shen Y, Dong Q. A rare case of unilateral adrenal hyperplasia accompanied by hypokalaemic periodic paralysis caused by a novel dominant mutation in CACNA1S: features and prognosis after adrenalectomy. BMC Urol. 2014;14:96 pubmed publisher
    ..hyperplasia accompanied by hypokalaemic periodic paralysis type I resulting from a novel dominant mutation in CACNA1S. We present the clinical features and prognosis after adrenalectomy in this case...
  62. Benedetti B, Tuluc P, Mastrolia V, Dlaska C, Flucher B. Physiological and pharmacological modulation of the embryonic skeletal muscle calcium channel splice variant CaV1.1e. Biophys J. 2015;108:1072-80 pubmed publisher
    ..It might block the excessive calcium influx resulting from the aberrant expression of the embryonic splice variant CaV1.1e in the skeletal muscles of myotonic dystrophy patients. ..
  63. Hasan N, Ray T, Gregg R. CACNA1S expression in mouse retina: Novel isoforms and antibody cross-reactivity with GPR179. Vis Neurosci. 2016;33:E009 pubmed publisher
    b>Cacna1s encodes the ?1S subunit (Cav1.1) of voltage-dependent calcium channels, and is required for normal skeletal and cardiac muscle function, where it couples with the ryanodine receptor to regulate muscle contraction...
  64. Anandan C, Cipriani M, Laughlin R, Niu Z, Milone M. Rhabdomyolysis and Fluctuating Asymptomatic HyperCKemia Associated with CACNA1S Variant. Eur J Neurol. 2017;: pubmed publisher
    b>CACNA1S encodes Cav 1.1, a voltage sensor for muscle excitation-contraction coupling, which activates the ryanodine receptor 1 (RYR1) leading to calcium release from the sarcoplasmic reticulum...
  65. Campiglio M, Flucher B. STAC3 stably interacts through its C1 domain with CaV1.1 in skeletal muscle triads. Sci Rep. 2017;7:41003 pubmed publisher
    ..Thus, the C1 domain of STAC3 is responsible for its stable incorporation into the CaV1.1 complex, whereas the SH3 domain containing the NAM mutation site may be involved in low-affinity functional interactions in EC-coupling. ..
  66. Levano S, Gonzalez A, Singer M, Demougin P, Rüffert H, Urwyler A, et al. Resequencing array for gene variant detection in malignant hyperthermia and butyrylcholinestherase deficiency. Neuromuscul Disord. 2017;27:492-499 pubmed publisher
    ..pharmacogenetic disorders in anesthetic practice linked with sequence variants, the former in the RyR1 and CACNA1S genes, the latter in the BCHE gene...
  67. Laine J, Skoglund G, Fournier E, Tabti N. Development of the excitation-contraction coupling machinery and its relation to myofibrillogenesis in human iPSC-derived skeletal myocytes. Skelet Muscle. 2018;8:1 pubmed publisher
    ..Formation of typical triads requires other factors/conditions, and this should be taken into account when using in-vitro models to explore skeletal muscle diseases, especially those affecting E-C coupling. ..
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    ..coding for the skeletal muscle ryanodine receptor (RYR1) and alpha 1 subunit of the dihydropyridine receptor (CACNA1S) have been identified as causative for malignant hyperthermia (MH)...
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    Mutations in CACNA1S (calcium channel, voltage‑dependent, L type, alpha 1S subunit) and SCN4A (sodium channel, voltage‑gated, type IV, alpha subunit) are associated with hypokalemic periodic paralysis (HPP)...
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    ..1e splice variant correlate with muscle weakness in myotonic dystrophy. Here, we deleted CaV1.1 (Cacna1s) exon 29 in mice...
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    Several missense mutations of CACNA1S and SCN4A genes occur in hypokalemic periodic paralysis. These mutations affect arginine residues in the S4 voltage sensors of the channel. Approximately 20% of cases remain genetically undefined...
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    ..Phosphorylation of serine 1854 may play a pivotal role in the regulation of calcium channel function by cA-PK. ..
  87. Kim J, Jarvik G, Browning B, Rajagopalan R, Gordon A, Rieder M, et al. Exome sequencing reveals novel rare variants in the ryanodine receptor and calcium channel genes in malignant hyperthermia families. Anesthesiology. 2013;119:1054-65 pubmed publisher
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    ..We conclude that excitation releases the ryanodine receptor from occlusion by the dihydropyridine receptor, enabling Ca(2+) release from the ryanodine receptor to the cytosol. ..
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    Hypokalaemic periodic paralysis (HypoKPP) is a skeletal muscle channelopathy caused by mutations in calcium (CACNA1S) and sodium (SCN4A) channel subunits...
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