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Mutations in zebrafish cav1.3a underlie the auditory-vestibular defects of gemini (gem) circler mutants. gem mutant hair cells display normal cell viability, afferent synaptogenesis, and peripheral innervation, yet exhibit reduced extracellular potentials
new information on the hypothalamic expression of alpha1A and alpha1D subunits during development in a mammal with a long gestation period and a large and convoluted brain.
Data suggest that p.G403D mutation in CACNA1D causes persistent hyperinsulinaemic hypoglycaemia with heart defects (presenting as aortic valve insufficiency) and severe neuromuscular disease (presenting as hypotonia); this study involves DNA mutational analysis in one patient plus 2 unrelated patients. [CASE REPORT]
These results provide the evidence of a direct regulatory role of Snapin (zeige SNAPIN Proteine) on Cav1.3 channels in atrial myocytes.
Study used structure modeling and MD simulations to predict omega-currents in CaV1.1 (zeige CACNA1S Proteine) and CaV1.3 channel VSDs when one of the first three S4 gating charges harbors a disease-causing mutation. Using site-directed mutagenesis and electrophysiology, experimentally confirmed that the mutation of R3 charge to His in VSD III of CaV1.3 channels results in an omega-current at hyperpolarizing potentials.
CACNA1D mutations predominate in small zona glomerulosa (ZG)-like Aldosterone-producing Adenomas.
The CACNA1C (zeige CACNA1C Proteine)-L762F mutation is associated with development of long QT syndrome through slower channel inactivation and increased sustained and window current. Timothy syndrome -associated mutations localize to specific areas of CACNA1C (zeige CACNA1C Proteine) and are associated with a younger age at presentation, higher QTc, and 2:1 AV block than isolated LQTS-associated mutations.
Mutations in CACNA1D cause the excessive autonomous aldosterone secretion of Aldosterone-producing Adenomas.
While the relative contribution of Cav1.3 to intestinal Ca(2 (zeige CA2 Proteine)+) absorption and its value as a therapeutic target remain to be established, we postulate that Cav1.3 downregulation in IBD may contribute to the negative systemic Ca(2 (zeige CA2 Proteine)+) balance, to increased bone resorption, and to reduced bone mineral density in IBD patients.
E2 upregulated the expression of Cav1.3 for Ca2+ influx to promote the expression of p-ERK1/2 for cell proliferation in breast cancer cells
LRP1B (zeige LRP1B Proteine), BRD2 (zeige BRD2 Proteine) and CACNA1D are new candidate genes in fetal metabolic programming of newborns exposed to maternal hyperglycemia.
CACNA1D might not be a risk gene for SCZ in Han Chinese population, which add to the current state of knowledge regarding the susceptibility of CACNA1D to schizophrenia.
Ca(2 (zeige CA2 Proteine)+) entry serves critical cellular functions in virtually every cell type, and appropriate regulation of Ca(2 (zeige CA2 Proteine)+) in neurons is essential for proper function.
Auditory inner hair cells (IHCs) encode sounds into nerve impulses through fast and indefatigable Ca(2 (zeige CA2 Proteine)+)-dependent exocytosis at their ribbon synapses. We show that this synaptic process involves long and short C-terminal isoforms of the Cav1.3 Ca(2 (zeige CA2 Proteine)+) channel that differ in the kinetics of their Ca(2 (zeige CA2 Proteine)+)-dependent inactivation and their relative sensitivity to the l-type Ca(2 (zeige CA2 Proteine)+) channel blocker nifedipine.
alpha1D Ca and SK4 channels are coupled in the atria, and deletion of alpha1D leads to decreased SK4 mRNA and BNP secretion providing evidence for a novel role of alpha1D in atrial endocrine function
beta-Adrenergic stimulation enhanced pacemaking of both genotypes, though, Cav1.3(-/-) sino-atrial node cells remained slower than wild type
implicating Cav1.3 as an essential element for hippocampus-associated cognitive functions
Studies indicate the function of L-type calcium channels Cav1.3 in chromaffin cells.
Data suggest that the ion channels CaV1.3, bestrophin-1 (zeige BEST1 Proteine) and maxiK (zeige KCNMA1 Proteine) were identified as players in the regulation of photoreceptor outer segments (POS) phagocytosis by the retinal pigment epithelium (RPE (zeige RPE Proteine)).
Cp8 is a new of Cav1.2 (zeige CACNA1C Proteine) and Cav1.3 channel activators.
RIM2alpha and RIM2beta promote a large complement of synaptic CaV1.3 Ca(2 (zeige CA2 Proteine)+) channels at inner hair cell presynaptic active zones and are required for normal hearing.
Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, namely alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1D subunit. Several transcript variants encoding different isoforms have been found for this gene.
L-type calcium channel pore subunit isoform 1.3a
, voltage-dependent L-type calcium channel subunit alpha-1D
, voltage-gated calcium channel alpha 1D subunit
, calcium channel, voltage-dependent, L type, alpha 1D subunit
, voltage-gated calcium channel subunit Cav1.3
, calcium channel voltage-dependent L type Cav1.3, alpha 1d subunit
, voltage-dependent L-type calcium channel subunit alpha-1D-like
, calcium channel, L type, alpha-1 polypeptide
, calcium channel, neuroendocrine/brain-type, alpha 1 subunit
, voltage-gated calcium channel alpha 1 subunit
, voltage-gated calcium channel alpha subunit Cav1.3
, brain class D
, calcium channel alpha-1 subunit
, voltage-dependent calcium channel subunit alpha1D
, voltage-gated calcium channel pore forming subunit CaV1.3alpha1 IVS3-IVS4 extracellular linker
, voltage-gated calcium channel subunit alpha Cav1.3
, alpha 1 E
, L-type voltage-gated calcium channel alpha1D subunit ChCaChA1D