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Study used structure modeling and MD simulations to predict pathogenic omega-currents in CaV1.1 and CaV1.3 (zeige CACNA1D Proteine) Ca(2 (zeige CA2 Proteine)+) 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.
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 (zeige EIF3K Proteine) 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 (zeige SCN4A Proteine) 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 (zeige RYR1 Proteine) and alpha 1 subunit of the dihydropyridine receptor (CACNA1S) have been identified as causative for malignant hyperthermia.
Aberrant splicing of Cav (zeige CA5A Proteine) 1.1 may alter intracellular Ca(2 (zeige CA2 Proteine)+) signalling in myotonic dystrophy 1 and 2 myotubes. The differing dysregulation of intracellular Ca(2 (zeige CA2 Proteine)+) handling in DM1 (zeige DMPK Proteine) and DM2 (zeige CNBP Proteine) 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 (zeige JSRP1 Proteine) variants decreased the sensitivity of the dihydropyridine receptor DHPR (zeige QDPR Proteine) to activation.
TnT3 regulates expression of Cav1.1 in skeletal muscle, this regulation is impaired in aging.
Immunohistochemistry and western blotting after expression of GPR179 in HEK293T cells indicate that the CACNA1S antibody used here and in the retinal studies published to date, cross-reacts with GPR179.
TnT3 regulates transcription of Cacna1s, the gene encoding Cav1.1. Knocking down TnT3 in vivo downregulated Cav1.1.
mutating residue E4242 affects RyR1 (zeige RYR1 Proteine) 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 (zeige MSC Proteine) with BMP4 (zeige BMP4 Proteine) caused a significant increase in expression of Cav1.2 (zeige CACNA1C Proteine), 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 (zeige RPTOR Proteine) ablation in skeletal muscle decreases Cav1.1 expression and affects the function of the excitation-contraction coupling supramolecular complex.
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