| CaV1.1 voltage-sensing domain III exclusively controls skeletal muscle excitation-contraction coupling. | Ca(V)1.1 voltage-sensing domain III exclusively controls skeletal muscle excitation-contraction coupling.
Pelizzari S, Heiss MC, Fernández-Quintero ML, El Ghaleb Y, Liedl KR, Tuluc P, Campiglio M, Flucher BE., Free PMC Article | 09/10/2024 |
| CACNA1S mutation-associated dental anomalies: A calcium channelopathy. | CACNA1S mutation-associated dental anomalies: A calcium channelopathy.
Kantaputra P, Butali A, Eliason S, Chalkley C, Nakornchai S, Bongkochwilawan C, Kawasaki K, Kumchiang A, Ngamphiw C, Tongsima S, Ketudat Cairns JR, Olsen B, Intachai W, Ohazama A, Tucker AS, Amendt BA., Free PMC Article | 06/12/2024 |
| Biallellic variants in CACNA1S cause fetal akinesia sequence, progressive hydrops and stillbirth. | Biallellic variants in CACNA1S cause fetal akinesia sequence, progressive hydrops and stillbirth.
Seed E, Noon F, Milnes D, Roscioli T, Kristensen K, Ellwood D, DaSilva Costa F. | 01/3/2024 |
| CACNA1S Variant Associated With a Myalgic Myopathy Phenotype. | CACNA1S Variant Associated With a Myalgic Myopathy Phenotype.
Periviita V, Palmio J, Jokela M, Hartikainen P, Vihola A, Rauramaa T, Udd B., Free PMC Article | 11/6/2023 |
| Congenital Myopathy as a Phenotypic Expression of CACNA1S Gene Mutation: Case Report and Systematic Review of the Literature. | Congenital Myopathy as a Phenotypic Expression of CACNA1S Gene Mutation: Case Report and Systematic Review of the Literature.
Marinella G, Orsini A, Scacciati M, Costa E, Santangelo A, Astrea G, Frosini S, Pasquariello R, Rubegni A, Sgherri G, Corsi M, Bonuccelli A, Battini R., Free PMC Article | 08/9/2023 |
| Mutations associated with hypokalemic periodic paralysis: from hotspot regions to complete analysis of CACNA1S and SCN4A genes. | Mutations associated with hypokalemic periodic paralysis: from hotspot regions to complete analysis of CACNA1S and SCN4A genes.
Brugnoni R, Canioni E, Filosto M, Pini A, Tonin P, Rossi T, Canavese C, Eoli M, Siciliano G, Lauria G, Mantegazza R, Maggi L. | 03/19/2022 |
| MRTF-A regulates Ca(2+) release through CACNA1S. | MRTF-A regulates Ca(2+) release through CACNA1S.
Liang C, Xu Y, Peng Z, Luo Y, Zhang T. | 12/4/2021 |
| Gating pore currents occur in CaV1.1 domain III mutants associated with HypoPP. | Gating pore currents occur in CaV1.1 domain III mutants associated with HypoPP.
Wu F, Quinonez M, Cannon SC., Free PMC Article | 10/30/2021 |
| Structural determinants of voltage-gating properties in calcium channels. | Structural determinants of voltage-gating properties in calcium channels.
Fernández-Quintero ML, El Ghaleb Y, Tuluc P, Campiglio M, Liedl KR, Flucher BE., Free PMC Article | 10/30/2021 |
| Mutation spectrum and health status in skeletal muscle channelopathies in Japan. | Mutation spectrum and health status in skeletal muscle channelopathies in Japan.
Sasaki R, Nakaza M, Furuta M, Fujino H, Kubota T, Takahashi MP. | 08/14/2021 |
| Investigating the genetic susceptibility to exertional heat illness. | Investigating the genetic susceptibility to exertional heat illness.
Gardner L, Miller DM, Daly C, Gupta PK, House C, Roiz de Sa D, Shaw MA, Hopkins PM. | 06/12/2021 |
| Morphological Alterations of the Sarcotubular System in Permanent Myopathy of Hereditary Hypokalemic Periodic Paralysis with a Mutation in the CACNA1S Gene. | Morphological Alterations of the Sarcotubular System in Permanent Myopathy of Hereditary Hypokalemic Periodic Paralysis with a Mutation in the CACNA1S Gene.
Nagasaka T, Hata T, Shindo K, Adachi Y, Takeuchi M, Saito K, Takiyama Y. | 05/15/2021 |
| The expanding phenotype of hypokalemic periodic paralysis in a Japanese family with p.Val876Glu mutation in CACNA1S. | The expanding phenotype of hypokalemic periodic paralysis in a Japanese family with p.Val876Glu mutation in CACNA1S.
Kurokawa M, Torio M, Ohkubo K, Tocan V, Ohyama N, Toda N, Ishii K, Nishiyama K, Mushimoto Y, Sakamoto R, Nakaza M, Horie R, Kubota T, Takahashi MP, Sakai Y, Nomura M, Ohga S., Free PMC Article | 04/3/2021 |
| CACNA1S haploinsufficiency confers resistance to New World arenavirus infection. | CACNA1S haploinsufficiency confers resistance to New World arenavirus infection.
Sarute N, Ross SR., Free PMC Article | 10/3/2020 |
| PharmGKB summary: very important pharmacogene information for CACNA1S. | PharmGKB summary: very important pharmacogene information for CACNA1S.
Sangkuhl K, Dirksen RT, Alvarellos ML, Altman RB, Klein TE., Free PMC Article | 10/3/2020 |
| Bayesian statistics predicted CACNA1S variant p.Thr1009Lys and RYR1 variants p.Ser1728Phe and p.Leu4824Pro are likely pathogenic, and novel STAC3 variant p.Met187Thr has uncertain significance. Nearly a third of MHS subjects had only benign variants. Bayesian method provides new approach to predict MH pathogenicity of genetic variants | Bayesian modeling to predict malignant hyperthermia susceptibility and pathogenicity of RYR1, CACNA1S and STAC3 variants.
Sadhasivam S, Brandom BW, Henker RA, McAuliffe JJ., Free PMC Article | 06/27/2020 |
| Accumulating evidence supports its possible involvement in linking CaV1.1 and RyR1 in skeletal muscle EC coupling, but also indicates a second, much broader role of STAC proteins in the regulation of calcium/calmodulin-dependent feedback regulation of L-type calcium channels. | STAC proteins: The missing link in skeletal muscle EC coupling and new regulators of calcium channel function.
Flucher BE, Campiglio M. | 11/30/2019 |
| Genetic variants within the RYR1 and CACNA1S genes are likely to be a major contributor to the susceptibility to statin-associated muscle symptoms. | RYR1 and CACNA1S genetic variants identified with statin-associated muscle symptoms.
Isackson PJ, Wang J, Zia M, Spurgeon P, Levesque A, Bard J, James S, Nowak N, Lee TK, Vladutiu GD., Free PMC Article | 09/14/2019 |
| Cav1.1 is specified for the excitation-contraction coupling of skeletal muscles, and has been a prototype in the structural investigations of Cav channels. This article summarized the recent advances in the structural elucidation of Cav1.1 and the mechanistic insights derived from the 3.6 A structure obtained using single-particle, electron cryomicroscopy. | Structure-Function Relationship of the Voltage-Gated Calcium Channel Ca(v)1.1 Complex.
Wu J, Yan N, Yan Z. | 08/18/2018 |
| he ryanodine receptor 1 (RyR1) is mainly expressed in the sarcoplasmic reticulum (SR) of skeletal muscle and is a calcium release channel which is coupled to the dihydropyridine receptor (CACNA1S) in the T-tubule of the sarcolemma. | Comparison of pathogenicity prediction tools on missense variants in RYR1 and CACNA1S associated with malignant hyperthermia.
Schiemann AH, Stowell KM., Free PMC Article | 08/11/2018 |
| V876E mutation generates a gating pore current that carries strong resting Na(+) inward currents in physiological conditions that are likely responsible for the severe hypokalemic periodic paralysis associated with this mutation. | Na leak with gating pore properties in hypokalemic periodic paralysis V876E mutant muscle Ca channel.
Fuster C, Perrot J, Berthier C, Jacquemond V, Charnet P, Allard B., Free PMC Article | 07/28/2018 |
| review of the pharmacogenetics and pathophysiology of CACNA1S mutations in malignant hyperthermia susceptibility type 5 (MHS5); several mutations are known to be risk factors for increased susceptibility; at present, one or at most six CACNA1S mutations display significant linkage or association either to clinically diagnosed MH or to MHS | Pharmacogenetics and pathophysiology of CACNA1S mutations in malignant hyperthermia.
Beam TA, Loudermilk EF, Kisor DF. | 03/24/2018 |
| Study used structure modeling and MD simulations to predict pathogenic omega-currents in CaV1.1 and CaV1.3 Ca(2+) channels bearing several S4 charge mutations: omega-currents conducted in resting state, but not during voltage-sensing domain activation. Mechanism responsible depends on the number of charges in S4, the position of the mutated S4 charge and countercharges, and the nature of the replacing amino acid. | Mechanisms Responsible for ω-Pore Currents in Ca(v) Calcium Channel Voltage-Sensing Domains.
Monteleone S, Lieb A, Pinggera A, Negro G, Fuchs JE, Hofer F, Striessnig J, Tuluc P, Liedl KR., Free PMC Article | 12/2/2017 |
| Study identified by exome sequencing both recessive and dominant CACNA1S mutations as a cause of a congenital myopathy characterized by peculiar morphological hallmarks in a cohort of 11 patients from 7 families. | Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy.
Schartner V, Romero NB, Donkervoort S, Treves S, Munot P, Pierson TM, Dabaj I, Malfatti E, Zaharieva IT, Zorzato F, Abath Neto O, Brochier G, Lornage X, Eymard B, Taratuto AL, Böhm J, Gonorazky H, Ramos-Platt L, Feng L, Phadke R, Bharucha-Goebel DX, Sumner CJ, Bui MT, Lacene E, Beuvin M, Labasse C, Dondaine N, Schneider R, Thompson J, Boland A, Deleuze JF, Matthews E, Pakleza AN, Sewry CA, Biancalana V, Quijano-Roy S, Muntoni F, Fardeau M, Bönnemann CG, Laporte J. | 09/16/2017 |
| whole-exome next-generation sequencing was used to identify a mutation in the CACNA1S gene, R900S, which is a rare mutation associated with hypokalemic periodic paralysis; study provides further evidence for the phenotypic variation and pharmacogenomics of hypokalemic periodic paralysis | The R900S mutation in CACNA1S associated with hypokalemic periodic paralysis.
Ke Q, He F, Lu L, Yu P, Jiang Y, Weng C, Huang H, Yi X, Qi M. | 12/31/2016 |