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CACNA1S encodes one of the five subunits of the slowly inactivating L-type voltage-dependent calcium channel in skeletal muscle cells. Additionally we are shipping CACNA1S Kits (5) and CACNA1S Proteins (5) and many more products for this protein.
Showing 10 out of 31 products:
CACNA1S and SCN4A (show SCN4A Antibodies) mutations are relatively rare in patients with hypokalemic periodic paralysis
The authors found one and three rare variants of unknown significance in CACNA1S in the Malignant Hyperthermia and Exertional Heat cohorts
Defects in the genes coding for the skeletal muscle ryanodine receptor (show RYR1 Antibodies) and alpha 1 subunit of the dihydropyridine receptor (CACNA1S) have been identified as causative for malignant hyperthermia.
Aberrant splicing of Cav (show CA5A Antibodies) 1.1 may alter intracellular Ca(2 (show CA2 Antibodies)+) signalling in myotonic dystrophy 1 and 2 myotubes. The differing dysregulation of intracellular Ca(2 (show CA2 Antibodies)+) handling in DM1 (show DMPK Antibodies) and DM2 (show CNBP Antibodies) may explain their distinct sarcolemmal hyperexcitabilities.
Exome sequencing revealed one rare cacna1s nonsynonymous variant in a family with malignant hyperthermia
Data indicate that the presence of either one of these JP-45 (show JSRP1 Antibodies) variants decreased the sensitivity of the dihydropyridine receptor DHPR (show QDPR Antibodies) to activation.
Affected members of a 5-generation Chinese family with hypokalemic periodic paralysis patients had a novel His916Gln mutation in all male HypoPP patients of the family. Penetrance of the mutation was complete in male carriers, but not female carriers.
Misregulated splicing and altered gating of Ca(V)1.1 calcium channel is associated with muscle weakness in myotonic dystrophy.
A novel mutation in the CACNA1S gene--p.Arg900Gly--is found in a patient with hypokalemic periodic paralysis; this mutation is subsequently found to affect some of the patient's other family members.
All familial periodic paralysis patients studied have mutations in either CACNA1S or SCN4A (show SCN4A Antibodies), but only 4 sporadic periodic paralysis patients have de novo mutations in CACNA1S (R1239H) and SCN4A (show SCN4A Antibodies) (R669x2, R1135H).
Knockdown of Cav1.1 channels in T cells abrogated calcium entry after TCR stimulation, suggesting that Cav1.1 channels are controlled by T cell receptor signaling
Treatment of MSC (show MSC Antibodies) with BMP4 (show BMP4 Antibodies) caused a significant increase in expression of Cav1.2 (show CACNA1C Antibodies), a delay in expression of Cav1.1, and a reduction in the duration of calcium transients when extracellular calcium was removed
This study delineates a previously uncharacterized CaV1.1-mediated pathway that regulates energy utilization in skeletal muscle.
Raptor (show RPTOR Antibodies) ablation in skeletal muscle decreases Cav1.1 expression and affects the function of the excitation-contraction coupling supramolecular complex.
amino-termini of Rad (show RRAD Antibodies) and Rem (show REM1 Antibodies) as the structural elements dictating the specific modes of inhibition of CaV1.1
the localization and stability of Cacna1s depend on the expression of mGluR6 (show GRM6 Antibodies) and its cascade components, and they suggest that Cacna1s is part of the mGluR6 (show GRM6 Antibodies) complex.
This work demonstrates the critical role of the chloride gradient in modulating the susceptibility to ictal weakness and establishes bumetanide as a potential therapy for hypokalaemic periodic paralysis arising from either NaV1.4 (show SCN4A Antibodies) or CaV1.1 mutations.
Data propose a new role for Cav1.1 in the activation of signaling pathways allowing muscle fibers to decipher the frequency of electrical stimulation and to activate specific transcriptional programs that define their phenotype.
Ca(2 (show CA2 Antibodies)+) transients evoked by tetanic stimulation are the result of massive Ca(2 (show CA2 Antibodies)+) influx due to enhanced Ca(v)1.1 channel activity, which restores muscle strength in JP45 (show JSRP1 Antibodies)/CASQ1 (show CASQ1 Antibodies) double knockout mice.
The CaV1.1 R528H knockin mutant mouse created a skeletal muscle phenotype that recapitulated all the essential features of hypokalemic periodic paralysis in humans.
Results describe the cloning, sequencing and identification of single nucleotide polymorphisms of partial sequence on the porcine CACNA1S gene.
This gene encodes one of the five subunits of the slowly inactivating L-type voltage-dependent calcium channel in skeletal muscle cells. Mutations in this gene have been associated with hypokalemic periodic paralysis, thyrotoxic periodic paralysis and malignant hyperthermia susceptibility.
calcium channel, voltage-dependent, L type, alpha 1S subunit
, voltage-dependent L type calcium channel alpha 1S subunit
, voltage-dependent L-type calcium channel subunit alpha-1S
, transverse tubule dihydropyridine receptor alpha 1 subunit
, calcium channel, L type, alpha 1 polypeptide, isoform 3 (skeletal muscle, hypokalemic periodic paralysis)
, dihydropyridine receptor
, dihydropyridine-sensitive L-type calcium channel alpha-1 subunit
, voltage-gated calcium channel subunit alpha Cav1.1
, calcium channel, L type, alpha-1 polypeptide, isoform 3, skeletal muscle
, DHPR alpha1s
, dihydropyridine receptor alpha 1S
, muscle dysgenesis
, L-type calcium channel, alpha 1 subunit
, voltage-gated calcium channel alpha 1S subunit