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anti-Human CACNA1S Antibodies:
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Human Polyclonal CACNA1S Primary Antibody for IF (p), IHC (p) - ABIN1387901
Lobeck, Donnelly, Dupree, Mahe, McNeal, Mohanty, Tiao: Rhesus rotavirus VP6 regulates ERK-dependent calcium influx in cholangiocytes. in Virology 2016
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.
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
These results provide new insights into the role of muscle-specific (show EIF3K Antibodies) proteins on the structural arrangement of alpha1S intracellular loops and point to a new conformational effect of the beta1a subunit in supporting skeletal muscle excitation-contraction coupling.
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.
Immunohistochemistry and western blotting after expression of GPR179 (show GPR179 Antibodies) in HEK293T cells indicate that the CACNA1S antibody used here and in the retinal studies published to date, cross-reacts with GPR179 (show GPR179 Antibodies).
TnT3 regulates transcription of Cacna1s, the gene encoding Cav1.1. Knocking down TnT3 in vivo downregulated Cav1.1.
mutating residue E4242 affects RyR1 (show RYR1 Antibodies) structures critical for retrograde communication with CaV1.1
Events occurring locally in the skeletal muscle of SOD1 mutant mice contribute to the impairment of CaV1.1 function in ALS muscle independently of innervation status.
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
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