Cacna1s

Summary

Gene Symbol: Cacna1s
Description: calcium channel, voltage-dependent, L type, alpha 1S subunit
Alias: AW493108, Cav1.1, Cchl1a3, DHPR, fmd, mdg, voltage-dependent L-type calcium channel subunit alpha-1S, DHPR alpha1s, calcium channel, L type, alpha-1 polypeptide, isoform 3, skeletal muscle, dihydropyridine receptor alpha 1S, muscle dysgenesis, voltage-gated calcium channel subunit alpha Cav1.1
Species: mouse
Products:     Cacna1s

Top Publications

  1. Powell J, Rieger F, Blondet B, Dreyfus P, Pincon Raymond M. Distribution and quantification of ACh receptors and innervation in diaphragm muscle of normal and mdg mouse embryos. Dev Biol. 1984;101:168-80 pubmed
    Muscular dysgenesis (mdg) in the mouse is an autosomal recessive mutation, expressed in the homozygous state (in vivo and in vitro) as an absence of skeletal muscle contraction...
  2. Erwin V, Markel P, Johnson T, Gehle V, Jones B. Common quantitative trait loci for alcohol-related behaviors and central nervous system neurotensin measures: hypnotic and hypothermic effects. J Pharmacol Exp Ther. 1997;280:911-8 pubmed
    ..Common QTL indicate that genes regulating NT receptor and/or NT-ir expression may be the same as those regulating sensitivity to ethanol. ..
  3. Heimann P, Kuschel T, Jockusch H. Elimination by necrosis, not apoptosis, of embryonic extraocular muscles in the muscular dysgenesis mutant of the mouse. Cell Tissue Res. 2004;315:243-7 pubmed
    ..the skeletal muscle isoform of the voltage-sensor Ca2+ channel of skeletal muscle (DHP receptor alpha1 subunit, Cchl1a3, Chr1), which is essential for excitation-contraction coupling...
  4. Carbonneau L, Bhattacharya D, Sheridan D, Coronado R. Multiple loops of the dihydropyridine receptor pore subunit are required for full-scale excitation-contraction coupling in skeletal muscle. Biophys J. 2005;89:243-55 pubmed
    ..Thus, despite the importance of the II-III loop there may be other critical determinants in alpha1S that influence the efficiency of EC coupling. ..
  5. Zheng Z, Wang Z, Delbono O. Charge movement and transcription regulation of L-type calcium channel alpha(1S) in skeletal muscle cells. J Physiol. 2002;540:397-409 pubmed
    Several factors, such as Ca(2+), trophic factors and ageing, regulate dihydropyridine-sensitive receptor (DHPR) alpha(1) subunit expression. However, basic mechanisms of DHPR alpha(1S) expression are unknown...
  6. Delbono O, Xia J, Treves S, Wang Z, Jimenez Moreno R, Payne A, et al. Loss of skeletal muscle strength by ablation of the sarcoplasmic reticulum protein JP45. Proc Natl Acad Sci U S A. 2007;104:20108-13 pubmed
    ..These results point to JP45 as one of the molecules involved in the development or maintenance of skeletal muscle strength. ..
  7. Stroffekova K. Ca2+/CaM-dependent inactivation of the skeletal muscle L-type Ca2+ channel (Cav1.1). Pflugers Arch. 2008;455:873-84 pubmed
    ..1 and CaMwt coexpressed in dysgenic myotubes, demonstrating for the first time that these two proteins associate in vivo. These findings show that CaM associates with and modulates Cav1.1. ..
  8. Tang Z, Yarotskyy V, Wei L, Sobczak K, Nakamori M, Eichinger K, et al. Muscle weakness in myotonic dystrophy associated with misregulated splicing and altered gating of Ca(V)1.1 calcium channel. Hum Mol Genet. 2012;21:1312-24 pubmed publisher
    ..Together, these results indicate that DM-associated splicing defects alter Ca(V)1.1 function, with potential for exacerbation of myopathy...
  9. Tuluc P, Molenda N, Schlick B, Obermair G, Flucher B, Jurkat Rott K. A CaV1.1 Ca2+ channel splice variant with high conductance and voltage-sensitivity alters EC coupling in developing skeletal muscle. Biophys J. 2009;96:35-44 pubmed publisher
    ..Here, we identified a Ca(V)1.1 splice variant with greatly distinct current properties. The variant of the CACNA1S gene lacking exon 29 was expressed at low levels in differentiated human and mouse muscle, and up to 80% in ..

More Information

Publications82

  1. Powell J, Peterson A, Paul C. Neurons induce contractions in myotubes containing only muscular dysgenic nuclei. Muscle Nerve. 1984;7:204-10 pubmed
    Muscular dysgenic (mdg/mdg) myotubes cultured alone do not contract...
  2. Schlick B, Flucher B, Obermair G. Voltage-activated calcium channel expression profiles in mouse brain and cultured hippocampal neurons. Neuroscience. 2010;167:786-98 pubmed publisher
    ..Developmental changes are likely determined by an intrinsic program and not regulated by changes in neuronal activity. ..
  3. Dayal A, Schrötter K, Pan Y, Föhr K, Melzer W, Grabner M. The Ca2+ influx through the mammalian skeletal muscle dihydropyridine receptor is irrelevant for muscle performance. Nat Commun. 2017;8:475 pubmed publisher
    ..by sarcolemmal depolarization, which is translated into a conformational change of the dihydropyridine receptor (DHPR), which in turn activates sarcoplasmic reticulum (SR) Ca2+ release to trigger muscle contraction...
  4. Drouet B, Garcia L, Simon Chazottes D, Mattei M, Guenet J, Schwartz A, et al. The gene coding for the alpha 1 subunit of the skeletal dihydropyridine receptor (Cchl1a3 = mdg) maps to mouse chromosome 1 and human 1q32. Mamm Genome. 1993;4:499-503 pubmed
    ..of the gene coding for the alpha 1 subunit of the skeletal slow Ca2+ current channel/DHP receptor gene (Cchl1a3) on human Chromosome (Chr) 1 (1q31-1q32 region) and on mouse Chr 1 (region (F-G))...
  5. Shtifman A, Paolini C, Lopez J, Allen P, Protasi F. Ca2+ influx through alpha1S DHPR may play a role in regulating Ca2+ release from RyR1 in skeletal muscle. Am J Physiol Cell Physiol. 2004;286:C73-8 pubmed
    ..After either treatment, Ca2+ oscillations could be restored upon extensive washing. Although exposure to DHPR antagonists completely blocked Ca2+ oscillations, normal orthograde signaling between DHPRs and RyRs, such as that ..
  6. Rieger F, Pincon Raymond M. Muscle and nerve in muscular dysgenesis in the mouse at birth: sprouting and multiple innervation. Dev Biol. 1981;87:85-101 pubmed
  7. Peterson A, Pena S. Relationship of genotype and in vitro contractility in mdg/mdg in equilibrium +/+ "mosaic" myotubes. Muscle Nerve. 1984;7:194-203 pubmed
    Muscular dysgenesis (mdg) in the mouse is an autosomal recessive lethal disorder that is manifested by a gross failure of skeletal muscle development...
  8. Strube C. Absence of regulation of the T-type calcium current by Cav1.1, beta1a and gamma1 dihydropyridine receptor subunits in skeletal muscle cells. Pflugers Arch. 2008;455:921-7 pubmed
    ..Co-expression of dihydropyridine receptor (DHPR) auxiliary subunits with T-type alpha1 subunits in heterologous systems has produced conflicting results...
  9. Krasnyi A, Ozerniuk N. [The expression of genes encoding the voltage-dependent L-type Ca2+ channels in proliferating and differentiating C2C12 myoblasts of mice]. Izv Akad Nauk Ser Biol. 2011;:349-53 pubmed
    ..The expression of genes Cacna1s, Cacna1S, Cacna1d, and Cacna1f, which encode channel forming subunits alpha1S, alpha1C, alph1D, and alpha1F, ..
  10. 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. ..
  11. Xu M, Welling A, Paparisto S, Hofmann F, Klugbauer N. Enhanced expression of L-type Cav1.3 calcium channels in murine embryonic hearts from Cav1.2-deficient mice. J Biol Chem. 2003;278:40837-41 pubmed
    ..2 (-/-) cardiomyocytes. In summary, our results imply that calcium channel expression is dynamically regulated during heart development and that the Cav1.3 channel may substitute for Cav1.2 during early embryogenesis. ..
  12. Pinto J, Muller Delp J, Chase P. Will you still need me (Ca2+ , TnT, and DHPR), will you still cleave me (calpain), when I'm 64?. Aging Cell. 2017;16:202-204 pubmed publisher
  13. Obermair G, Kugler G, Baumgartner S, Tuluc P, Grabner M, Flucher B. The Ca2+ channel alpha2delta-1 subunit determines Ca2+ current kinetics in skeletal muscle but not targeting of alpha1S or excitation-contraction coupling. J Biol Chem. 2005;280:2229-37 pubmed
    ..However, this subunit is not essential for targeting of Ca(2+) channels or for their primary physiological role in activating skeletal muscle excitation-contraction coupling. ..
  14. Zhang T, Pereyra A, Wang Z, Birbrair A, Reisz J, Files D, et al. Calpain inhibition rescues troponin T3 fragmentation, increases Cav1.1, and enhances skeletal muscle force in aging sedentary mice. Aging Cell. 2016;15:488-98 pubmed publisher
    ..Here, we demonstrate that it regulates transcription of Cacna1s, the gene encoding Cav1.1. Knocking down TnT3 in vivo downregulated Cav1.1...
  15. Yao M, Essien F. DNA synthesis and the cell cycle in cultures of normal and mutant (mdg/mdg) embryonic mouse muscle cells. Dev Biol. 1975;45:166-75 pubmed
  16. Ashby P, Pincon Raymond M, Harris A. Regulation of myogenesis in paralyzed muscles in the mouse mutants peroneal muscular atrophy and muscular dysgenesis. Dev Biol. 1993;156:529-36 pubmed
    ..of skeletal muscle were studied using the mouse mutants peroneal muscular atrophy (pma) and muscular dysgenesis (mdg)...
  17. Tummala S, Neinstein A, Fina M, Dhingra A, Vardi N. Localization of Cacna1s to ON bipolar dendritic tips requires mGluR6-related cascade elements. Invest Ophthalmol Vis Sci. 2014;55:1483-92 pubmed publisher
    ..However, the pore forming subunit Cacna1s of certain L-type channels is also expressed postsynaptically at the tips of ON bipolar cell dendrites where it ..
  18. Luo Z, Pincon Raymond M, Taylor P. Acetylcholinesterase and nicotinic acetylcholine receptor expression diverge in muscular dysgenic mice lacking the L-type calcium channel. J Neurochem. 1996;67:111-8 pubmed
    ..The differential influence of muscle dysgenesis on mRNA levels of AChE and nAChRs provides additional evidence for distinct mechanisms of regulation of ..
  19. 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. ..
  20. Nelson B, Wu F, Liu Y, Anderson D, McAnally J, Lin W, et al. Skeletal muscle-specific T-tubule protein STAC3 mediates voltage-induced Ca2+ release and contractility. Proc Natl Acad Sci U S A. 2013;110:11881-6 pubmed publisher
    ..These findings reveal a previously uncharacterized, but required, component of the EC coupling machinery of skeletal muscle and introduce a candidate for consideration in myopathic disorders. ..
  21. Etemad S, Obermair G, Bindreither D, Benedetti A, Stanika R, Di Biase V, et al. Differential neuronal targeting of a new and two known calcium channel ?4 subunit splice variants correlates with their regulation of gene expression. J Neurosci. 2014;34:1446-61 pubmed publisher
  22. Zhou J, Yi J, Royer L, Launikonis B, Gonzalez A, Garcia J, et al. A probable role of dihydropyridine receptors in repression of Ca2+ sparks demonstrated in cultured mammalian muscle. Am J Physiol Cell Physiol. 2006;290:C539-53 pubmed
    ..To test for a role of DHPRs in this inhibition, we imaged myotubes from dysgenic mice (mdg) that lack DHPRs...
  23. Zheng Z, Wang Z, Delbono O. Insulin-like growth factor-1 increases skeletal muscle dihydropyridine receptor alpha 1S transcriptional activity by acting on the cAMP-response element-binding protein element of the promoter region. J Biol Chem. 2002;277:50535-42 pubmed
    ..that insulin-like growth factor 1 (IGF-1) increases the expression of the skeletal muscle dihydropyridine receptor (DHPR) alpha(1) subunit by regulating DHPR alpha(1S) nuclear transcription...
  24. 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...
  25. Dussartre C, Borrelli D, Duvert M, Melone M, Koenig J. Functional and structural recovery of myotubes from mice with muscular dysgenesis after co-culture with normal, non-myoblastic cells. Biol Cell. 1995;83:135-40 pubmed
    ..The restoration process seems to imply a close relationship between myotubes and normal glial cells. ..
  26. Buj Bello A, Fougerousse F, Schwab Y, Messaddeq N, Spehner D, Pierson C, et al. AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis. Hum Mol Genet. 2008;17:2132-43 pubmed publisher
    ..This study provides a proof-of-principle that local delivery of an AAV vector expressing myotubularin can improve the motor capacities of XLMTM muscle and represents a novel approach to study myotubularin function in skeletal muscle. ..
  27. Rederstorff M, Castets P, Arbogast S, Laine J, Vassilopoulos S, Beuvin M, et al. Increased muscle stress-sensitivity induced by selenoprotein N inactivation in mouse: a mammalian model for SEPN1-related myopathy. PLoS ONE. 2011;6:e23094 pubmed publisher
  28. Jha A, Singh A, Weissgerber P, Freichel M, Flockerzi V, Flavell R, et al. Essential roles for Cavβ2 and Cav1 channels in thymocyte development and T cell homeostasis. Sci Signal. 2015;8:ra103 pubmed publisher
    ..Together, our data suggest that Cav1 channels are conduits for the sustained Ca(2+) influx that is required for the development of T cells. ..
  29. Varadi G, Mikala G, Lory P, Varadi M, Drouet B, Pincon Raymond M, et al. Endogenous cardiac Ca2+ channels do not overcome the E-C coupling defect in immortalized dysgenic muscle cells: evidence for a missing link. FEBS Lett. 1995;368:405-10 pubmed
    The expression of subunit genes of the Ca2+ channel complex was studied in differentiating, immortalized mouse mdg cells...
  30. Bannister R, Grabner M, Beam K. The alpha(1S) III-IV loop influences 1,4-dihydropyridine receptor gating but is not directly involved in excitation-contraction coupling interactions with the type 1 ryanodine receptor. J Biol Chem. 2008;283:23217-23 pubmed publisher
    In skeletal muscle, coupling between the 1,4-dihydropyridine receptor (DHPR) and the type 1 ryanodine receptor (RyR1) underlies excitation-contraction (EC) coupling...
  31. Pai A. DEVELOPMENTAL GENETICS OF A LETHAL MUTATION, MUSCULAR DYSGENESIS (MDG), IN THE MOUSE. II. DEVELOPMENTAL ANALYSIS. Dev Biol. 1965;11:93-109 pubmed
  32. 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. ..
  33. Jorquera G, Altamirano F, Contreras Ferrat A, Almarza G, Buvinic S, Jacquemond V, et al. Cav1.1 controls frequency-dependent events regulating adult skeletal muscle plasticity. J Cell Sci. 2013;126:1189-98 pubmed publisher
  34. Chaudhari N, Beam K. mRNA for cardiac calcium channel is expressed during development of skeletal muscle. Dev Biol. 1993;155:507-15 pubmed
    ..channel mRNA also diminishes during the in vivo development of skeletal muscle in a genetically paralyzed mouse (mdg), indicating that muscle contractile activity is not necessary for the down-regulation...
  35. Gray P, Tibbs V, Catterall W, Murphy B. Identification of a 15-kDa cAMP-dependent protein kinase-anchoring protein associated with skeletal muscle L-type calcium channels. J Biol Chem. 1997;272:6297-302 pubmed
    ..Together, these findings demonstrate a physical link between PKA and the calcium channel and suggest that AKAP-15 may mediate their interaction. ..
  36. Perez Reyes E, Wei X, Castellano A, Birnbaumer L. Molecular diversity of L-type calcium channels. Evidence for alternative splicing of the transcripts of three non-allelic genes. J Biol Chem. 1990;265:20430-6 pubmed
    ..These results demonstrate that calcium channel diversity is created by both the expression of distinct genes and the alternate splicing of these genes...
  37. Rieger F, Powell J, Pincon Raymond M. Extensive nerve overgrowth and paucity of the tailed asymmetric form (16 S) of acetylcholinesterase in the developing skeletal neuromuscular system of the dysgenic (mdg/mdg) mouse. Dev Biol. 1984;101:181-91 pubmed
    In muscular dysgenesis (mdg) both skeletal muscle and motor innervation present an abnormal differentiation at birth (Rieger and Pinçon-Raymond. 1981)...
  38. Wu F, Mi W, Cannon S. Beneficial effects of bumetanide in a CaV1.1-R528H mouse model of hypokalaemic periodic paralysis. Brain. 2013;136:3766-74 pubmed publisher
    ..The R528H mutation in the calcium channel gene (CACNA1S encoding CaV1.1) is the most common cause of hypokalaemic periodic paralysis. We developed a CaV1...
  39. HUANG A, Riordan T, Pryce B, Weibel J, Watson S, Long F, et al. Musculoskeletal integration at the wrist underlies the modular development of limb tendons. Development. 2015;142:2431-41 pubmed publisher
    ..Subsequent individuation of these tendons depends on muscle activity. These results establish an integrated model for limb tendon development that provides a framework for future analyses of tendon and musculoskeletal phenotypes. ..
  40. Blitz E, Viukov S, Sharir A, Shwartz Y, Galloway J, Pryce B, et al. Bone ridge patterning during musculoskeletal assembly is mediated through SCX regulation of Bmp4 at the tendon-skeleton junction. Dev Cell. 2009;17:861-73 pubmed publisher
    ..This study establishes a mechanistic basis for tendon-skeleton regulatory interactions during musculoskeletal assembly and bone secondary patterning. ..
  41. Seth M, Li T, Graham V, Burch J, Finch E, Stiber J, et al. Dynamic regulation of sarcoplasmic reticulum Ca(2+) stores by stromal interaction molecule 1 and sarcolipin during muscle differentiation. Dev Dyn. 2012;241:639-47 pubmed publisher
    ..These results suggest that SOCE regulates SR/ER specialization and that SLN and STIM1 act in opposing fashions to govern SOCE during myogenesis. ..
  42. Wu F, Mi W, Hernández Ochoa E, Burns D, Fu Y, Gray H, et al. A calcium channel mutant mouse model of hypokalemic periodic paralysis. J Clin Invest. 2012;122:4580-91 pubmed publisher
    ..This "gating pore current" may be a common mechanism for paradoxical depolarization and susceptibility to HypoPP arising from missense mutations in the S4 voltage sensor of either calcium or sodium channels...
  43. Mosca B, Delbono O, Laura Messi M, Bergamelli L, Wang Z, Vukcevic M, et al. Enhanced dihydropyridine receptor calcium channel activity restores muscle strength in JP45/CASQ1 double knockout mice. Nat Commun. 2013;4:1541 pubmed publisher
    ..We envision that JP45 and CASQ1 may be candidate targets for the development of new therapeutic strategies against decay of skeletal muscle strength caused by a decrease in sarcoplasmic reticulum Ca(2+) content. ..
  44. Beqollari D, Romberg C, Meza U, Papadopoulos S, Bannister R. Differential effects of RGK proteins on L-type channel function in adult mouse skeletal muscle. Biophys J. 2014;106:1950-7 pubmed publisher
    ..Thus, we have identified the amino-termini of Rad and Rem as the structural elements dictating the specific modes of inhibition of CaV1.1. ..
  45. Platzer A, Gluecksohn Waelsch S. Fine structure of mutant (muscular dysgenesis) embryonic mouse muscle. Dev Biol. 1972;28:242-52 pubmed
  46. Shimahara T, Bournaud R. Barium currents in developing skeletal muscle cells of normal and mutant mice foetuses with 'muscular dysgenesis'. Cell Calcium. 1991;12:727-33 pubmed
    ..The latter, regardless of age, showed a high threshold current (Idys) which is distinct from the L-type current. Idys density did not change during the prenatal myogenesis period studied. ..
  47. Cougnon M, Moseley A, Radzyukevich T, Lingrel J, Heiny J. Na,K-ATPase alpha- and beta-isoform expression in developing skeletal muscles: alpha(2) correlates with t-tubule formation. Pflugers Arch. 2002;445:123-31 pubmed
    ..We measured Na,K-ATPase and dihydropyridine receptor (DHPR) mRNA and protein in the diaphragm and hindlimb muscles from embryonic day 18.5 (E18...
  48. Sultana N, Dienes B, Benedetti A, Tuluc P, Szentesi P, Sztretye M, et al. Restricting calcium currents is required for correct fiber type specification in skeletal muscle. Development. 2016;143:1547-59 pubmed publisher
    ..1e splice variant correlate with muscle weakness in myotonic dystrophy. Here, we deleted CaV1.1 (Cacna1s) exon 29 in mice...
  49. Chaudhari N. A single nucleotide deletion in the skeletal muscle-specific calcium channel transcript of muscular dysgenesis (mdg) mice. J Biol Chem. 1992;267:25636-9 pubmed
    ..A recessive mutation in mice, muscular dysgenesis (mdg), has previously been described as resulting in defective excitation-contraction coupling...
  50. Essien F, Jorgensen A, Kalnins V, Zubrzycka E, MacLennan D. The biosynthesis and localization of sarcoplasmic reticulum proteins in dysgenic (mdg/mdg) mouse cells. Lab Invest. 1977;37:562-8 pubmed
  51. Grajales L, Lach L, Janisch P, Geenen D, García J. Temporal expression of calcium channel subunits in satellite cells and bone marrow mesenchymal cells. Stem Cell Rev. 2015;11:408-22 pubmed publisher
  52. Polster A, Perni S, Bichraoui H, Beam K. Stac adaptor proteins regulate trafficking and function of muscle and neuronal L-type Ca2+ channels. Proc Natl Acad Sci U S A. 2015;112:602-6 pubmed publisher
    ..1, the principal subunit of the dihydropyridine receptor (DHPR) (L-type Ca(2+) channel), to plasma membrane regions at which the DHPRs interact with type 1 ryanodine receptors (..
  53. Knudson C, Chaudhari N, Sharp A, Powell J, Beam K, Campbell K. Specific absence of the alpha 1 subunit of the dihydropyridine receptor in mice with muscular dysgenesis. J Biol Chem. 1989;264:1345-8 pubmed
  54. Chin H, Krall M, Kim H, Kozak C, Mock B. The gene for the alpha 1 subunit of the skeletal muscle dihydropyridine-sensitive calcium channel (Cchl1a3) maps to mouse chromosome 1. Genomics. 1992;14:1089-91 pubmed
    b>Cchl1a3 encodes the dihydropyridine-sensitive calcium channel alpha 1 subunit isoform predominantly expressed in skeletal muscle. mdg (muscular dysgenesis) has previously been implicated as a mutant allele of this gene...
  55. 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. ..
  56. Gregg R, Messing A, Strube C, Beurg M, Moss R, Behan M, et al. Absence of the beta subunit (cchb1) of the skeletal muscle dihydropyridine receptor alters expression of the alpha 1 subunit and eliminates excitation-contraction coupling. Proc Natl Acad Sci U S A. 1996;93:13961-6 pubmed
    ..In contrast, the beta 1 subunit is localized appropriately in dysgenic, mdg/mdg, (alpha 1s-null) cells...
  57. Powell J. Muscular dysgenesis: a model system for studying skeletal muscle development. FASEB J. 1990;4:2798-808 pubmed
    Muscular dysgenesis, caused by an autosomal recessive lethal mutation (mdg) in mice, is characterized by an absence of contraction of skeletal muscle. A historical review of the investigation of this disorder is presented...
  58. Felder E, Protasi F, Hirsch R, Franzini Armstrong C, Allen P. Morphology and molecular composition of sarcoplasmic reticulum surface junctions in the absence of DHPR and RyR in mouse skeletal muscle. Biophys J. 2002;82:3144-9 pubmed
    ..SR), mediated by the "mechanical" coupling of ryanodine receptors (RyR) and dihydropyridine receptors (DHPR)...
  59. Driver J, Racca C, Cunningham M, Towers S, Davies C, Whittington M, et al. Impairment of hippocampal gamma-frequency oscillations in vitro in mice overexpressing human amyloid precursor protein (APP). Eur J Neurosci. 2007;26:1280-8 pubmed
    ..These data suggest that deficits in network function in Alzheimer's disease occur early and are not directly correlated to amyloid load. ..
  60. Caruso N, Herberth B, Bartoli M, Puppo F, Dumonceaux J, Zimmermann A, et al. Deregulation of the protocadherin gene FAT1 alters muscle shapes: implications for the pathogenesis of facioscapulohumeral dystrophy. PLoS Genet. 2013;9:e1003550 pubmed publisher
    ..Our study identifies FAT1 as a critical determinant of muscle form, misregulation of which associates with FSHD. ..
  61. Cheng W, Altafaj X, Ronjat M, Coronado R. Interaction between the dihydropyridine receptor Ca2+ channel beta-subunit and ryanodine receptor type 1 strengthens excitation-contraction coupling. Proc Natl Acad Sci U S A. 2005;102:19225-30 pubmed
    Previous studies have shown that the skeletal dihydropyridine receptor (DHPR) pore subunit Ca(V)1...
  62. Tchekalarova J, Albrecht D. Angiotensin II suppresses long-term depression in the lateral amygdala of mice via L-type calcium channels. Neurosci Lett. 2007;415:68-72 pubmed
    ..The results support the view that angiotensins are involved in mechanisms of learning and memory including the plasticity changes in the LA. ..
  63. Fassler R, Rohwedel J, Maltsev V, Bloch W, Lentini S, Guan K, et al. Differentiation and integrity of cardiac muscle cells are impaired in the absence of beta 1 integrin. J Cell Sci. 1996;109 ( Pt 13):2989-99 pubmed
    ..Thus, we conclude that interactions with the extracellular matrix via beta 1 integrin is necessary for differentiation and the maintenance of a specialized phenotype of cardiac muscle cells. ..
  64. Conklin M, Powers P, Gregg R, Coronado R. Ca2+ sparks in embryonic mouse skeletal muscle selectively deficient in dihydropyridine receptor alpha1S or beta1a subunits. Biophys J. 1999;76:657-69 pubmed
    ..of Ca2+ sparks in excitation-contraction uncoupled myotubes from mouse embryos lacking the beta1 subunit and mdg embryos lacking the alpha1S subunit of the dihydropyridine receptor...
  65. Mahalingam M, Perez C, Fessenden J. Fluorescence Resonance Energy Transfer-based Structural Analysis of the Dihydropyridine Receptor ?1S Subunit Reveals Conformational Differences Induced by Binding of the ?1a Subunit. J Biol Chem. 2016;291:13762-70 pubmed publisher
  66. Breton M, Li Z, Paulin D, Harris J, Rieger F, Pincon Raymond M, et al. Myotube driven myogenic recruitment of cells during in vitro myogenesis. Dev Dyn. 1995;202:126-36 pubmed
    Muscular dysgenesis (mdg) is a recessive lethal mutation in the mouse which drastically affects skeletal muscle development during embryonic life...
  67. Rieger F, Cross D, Peterson A, Pincon Raymond M, Tretjakoff I. Disease expression in +-/+- ----mdg/mdg mouse chimeras: evidence for an extramuscular component in the pathogenesis of both dysgenic abnormal diaphragm innervation and skeletal muscle 16 S acetylcholinesterase deficiency. Dev Biol. 1984;106:296-306 pubmed
    Homozygous mdg/mdg mice die at birth and express a syndrome of abnormalities, the most striking of which is a gross failure of skeletal muscle development...
  68. Eyal S, Blitz E, Shwartz Y, Akiyama H, Schweitzer R, Zelzer E. On the development of the patella. Development. 2015;142:1831-9 pubmed publisher
  69. Powell J, Fambrough D. Electrical properties of normal and dysgenic mouse skeletal muscle in culture. J Cell Physiol. 1973;82:21-38 pubmed
  70. Joffroy S, Dourdin N, Delage J, Cottin P, Koenig J, Brustis J. M-calpain levels increase during fusion of myoblasts in the mutant muscular dysgenesis (mdg) mouse. Int J Dev Biol. 2000;44:421-8 pubmed
    ..To evaluate this hypothesis, we chose as our model, the "muscular dysgenesis" mouse (mdg), which presents in vivo and in vitro characteristics of an elevated process of fusion (Yao and Essien, 1975; ..
  71. Pietri Rouxel F, Gentil C, Vassilopoulos S, Baas D, Mouisel E, Ferry A, et al. DHPR alpha1S subunit controls skeletal muscle mass and morphogenesis. EMBO J. 2010;29:643-54 pubmed publisher
    ..Our results reveal for the first time that this sarcolemmal fraction could have a role in a signalling pathway determining muscle anabolic or catabolic state and might act as a molecular sensor of muscle activity. ..
  72. Couchoux H, Bichraoui H, Chouabe C, Altafaj X, Bonvallet R, Allard B, et al. Caveolin-3 is a direct molecular partner of the Cav1.1 subunit of the skeletal muscle L-type calcium channel. Int J Biochem Cell Biol. 2011;43:713-20 pubmed publisher
    ..Previous results argued in favor of a role for caveolin-3 in dihydropyridine receptor (DHPR) functional regulation and/or T-tubular membrane localization...
  73. Polster A, Ohrtman J, Beam K, Papadopoulos S. Fluorescence resonance energy transfer (FRET) indicates that association with the type I ryanodine receptor (RyR1) causes reorientation of multiple cytoplasmic domains of the dihydropyridine receptor (DHPR) ?(1S) subunit. J Biol Chem. 2012;287:41560-8 pubmed publisher
    The skeletal muscle dihydropyridine receptor (DHPR) in the t-tubular membrane serves as the Ca(2+) channel and voltage sensor for excitation-contraction (EC) coupling, triggering Ca(2+) release via the type 1 ryanodine receptor (RyR1) in ..