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anti-Rat (Rattus) CACNA1A Antikörper:
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Rat (Rattus) Polyclonal CACNA1A Primary Antibody für WB - ABIN550310
Starr, Prystay, Snutch: Primary structure of a calcium channel that is highly expressed in the rat cerebellum. in Proceedings of the National Academy of Sciences of the United States of America 1991
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The efficient activation of CaV2.1 channels during action potentials may contribute to the highly reliable transmission at zebrafish neuromuscular junctions.
indings indicated that CACNA1A and CACNA1C might contribute to blood pressure changes over time in Han Chinese population.
The distribution frequency of TT genotype was higher than that of GG genotype (chi2=9.907, p=0.002, OR=0.279, 95% CI=0.123-0.633). In the Benign Paroxysmal Positional Vertigo (BPPV) group, cholesterol and uric acid levels of TT genotype were elevated compared with those in GG genotype (p<0.05). The onset of BPPV is related to the dominant homozygous mutation of rs2074880 (T/G) in the CACNA1A gene.
these findings demonstrated that the SNPs in the CACNA 1A, CACNA 1C, and CACNA 1H genes were involved in the pathophysiology of DPN. In addition, polymorphisms in the CACNA 1A, CACNA 1C, and CACNA 1H genes and their interactions also had effects on diabetic peripheral neuropathy (DPN) .
The CACNA1A gene was the most frequently involved, and its mutations were correlated with Benign paroxysmal torticollis , episodic ataxia, language delay, cognitive dysfunction, and family history with multiple types of episodic event in the family/
We performed a mutational screening of the CACNA1A gene, including the promoter and 3'UTR regions, in 49 unrelated patients diagnosed with episodic ataxia. Our data suggest that most of these variants are disease-causing, although functional studies are required.
Sequencing analysis showed 3 point mutations, two novel variants and one already described in literature. Moreover, MLPA analysis showed 3 deletions in 9 sporadic hemiplegic migraine (18%), in 3 patients with non-hemiplegic migraine (4.1%) and in 3 patients affected by episodic ataxia (20%). Two sporadic patients showed a deletion in exons 41-43, while (5) showed a deletion in the terminal part of CACNA1A.
The Episodic ataxias caused by heterozygous mutations in CACNA1A.
Expression levels of CACNA1A encoding alpha1A subunit were similar between spinocerebellar ataxia type 6 and control neurons, and no differences were found in the subcellular distribution of CaV2.1 channel protein
De novo missense mutations of CACNA1A were found in four patients (4/48, approximately 8.3%). Three of them developed migraine before or after the onset of ataxia. Seizures were present in half of the cases.
From a cohort study and literature review, authors conclude that CACNA1A mutations are more likely to be found in children with benign paroxysmal torticollis if accompanied by family histories of familial hemiplegic migraine, episodic ataxia, or paroxysmal tonic upgaze.
this report provides insight into the mutations in the CACNA1A gene and resulting pheno types and pres ents a novel inheritance pattern for this disorder.
The authors have identified a novel missense heterozygote variant of CACNA1A in a three generation Slovak family with recurrent episodes of ataxia.
the novel R1673P allele of CACNA1A produces neurodegenerative phenotypes in flies and human, likely due to a toxic gain of function
Whole exome sequencing technique confirmed, for the first time in the Polish population, a heterozygous T666M mutation (c.1997C>T; p.Thr666Met) in the CACNA1A gene in the proband, the proband's son and in several other family members. CONCLUSION: The presented report provides clinical and genetic insight into familial hemiplegic migraine 1 resulting from a mutation in the CACNA1A gene.
CACNA1A and SPG7 are major ataxia genes.
To assess the gene dosage effect in SCA6 homozygotes, study determined the effect of CACNA1A CAG repeat length on the age-of-onset in heterozygotes, found that the total number of CAG repeats in both the normal and expanded alleles was inversely correlated with the age-of-onset in SCA6
Electrophysiological characterization of VDCC currents revealed that the suppressive effect of RIM2alpha on voltage-dependent inactivation (VDI) was stronger than that of RIM1alpha for the CaV2.1 variant containing the region encoded by exons 44 and 47.
Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies
Microdomain-targeted remodeling of L-type Calcium Channels contributes to ventricular arrhyrhmias in heart failure.
Eye movement disorders are an early manifestation of CACNA1A mutations phenotype in children.
Study demonstrates that the functional defects in Cav2.1+/R1497X knock-in mice are due to the dominant-negative suppression of Cav2.1 channels and attests to the importance of the Cav2.1+/R1497X mouse model for studies of Episodic Ataxia type 2 pathophysiology as well as the development of therapeutic strategies for this disease.
These results identified a region that directly controlled fast synaptic vesicle release and vesicle docking at the active zone independent of CaV2.1 calcium channel abundance.
These results demonstrate that a functional deficit in P/Q-type channels does not alter propulsive colonic motility. Myenteric neuron L-type Ca(2+) channel function increases to compensate for loss of functional P/Q-type Ca(2+) channels.
Cacna1a mutation plays a significant role in protein expression patterns in cerebellum of mutant mice.
Our findings that BAG3 is localized at the sarcolemma and t-tubules while modulating myocyte contraction and action potential duration through specific interaction with the beta1-adrenergic receptor and L-type Ca(2+) channel provide novel insight into the role of BAG3 in cardiomyopathies and increased arrhythmia risks in heart failure.
Findings demonstrate that the mutant Cav2.1 channel exerts a protective effect against cryogenic brain injury in rolling Nagoya mice
results indicate that regulation of CaV2.1 channels by Ca(2+) sensor proteins is essential for normal synaptic plasticity at the neuromuscular junction and for muscle strength, endurance, and motor coordination in mice in vivo
regulation of CaV2.1 channels by calcium sensor proteins is required for normal short-term plasticity
Thus, GHSR1a differentially inhibits CaV2 channels by Gi/o or Gq protein pathways depending on its mode of activation.
Genetic ablation of Cacna1a in layer VI neurons produced Absence Epilepsy.
study showed that spontaneous C mutations causing cerebellar pathology are impaired in motor functions during the neonatal period.
CACNA1A regulates lysosomal fusion with endosomes and autophagosomes and is required for neuronal homeostasis.
CaV2.1 Ca2+ channel mutation leads to developmental abnormalities in Cl- transporter expression and GABAA receptor compositions in hippocampal neurons.
Study of interstrain comparisons providing some insight into the role that specific Purkinje cell firing rate alterations play in the Cacna1a mutant phenotype
Cacna1a mutations elevate neuronal [Ca(2+)]i and alter synaptic morphology as a mechanism for enhanced cortical spreading depression susceptibility in a mouse model of familial hemiplegic migraine type 1.
cav2.1 calcium channels have roles in regulating inhibitory and excitatory synaptic transmission in the lateral superior olive of mice
The tottering-6j mouse is a useful model for studying Cav2.1 channel functions and Cacna1a-related diseases, including absence epilepsy.
LTP was augmented by twofold in R192Q mice. R192Q mice showed significant spatial memory deficits.
This study emonstrated that the high-power low-frequency oscillations in the tg/tg cerebral cortex represent a highly abnormal excitability state that may underlie noncerebellar symptoms that characterize CACNA1A mutations.
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.
cloned the full-length alpha1A subunit
Gem contains two candidate inhibitory sites, each capable of producing full inhibition of P/Q-type Ca(2+) channels.
describe a CACNA1A mutation (A454T) that disturbs the functional interaction between SNAREs and the poreforming alpha1A subunit, resulting in mutant P/Q channels that are less efficiently coupled to secretion.
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, alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1A subunit, which is predominantly expressed in neuronal tissue. Mutations in this gene are associated with 2 neurologic disorders, familial hemiplegic migraine and episodic ataxia 2. This gene also exhibits polymorphic variation due to (CAG)n-repeats. Multiple transcript variants encoding different isoforms have been found for this gene. In one set of transcript variants, the (CAG)n-repeats occur in the 3' UTR, and are not associated with any disease. But in another set of variants, an insertion extends the coding region to include the (CAG)n-repeats which encode a polyglutamine tract. Expansion of the (CAG)n-repeats from the normal 4-16 to 21-28 in the coding region is associated with spinocerebellar ataxia 6.
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
, voltage-dependent calcium ion channel alpha subunit
, brain calcium channel 1
, brain calcium channel I
, brain class A
, calcium channel alpha 1A
, calcium channel, L type, alpha-1 polypeptide
, calcium channel, voltage-dependent, alpha 1A subunit
, voltage-dependent P/Q-type calcium channel subunit alpha-1A
, voltage-gated calcium channel subunit alpha Cav2.1
, P/Q-type calcium channel alpha1A subunit
, calcium channel, P/Q type, alpha 1A
, calcium channel, alpha 1A subunit
, voltage-gated calcium channel alpha 1A subunit
, calcium channel BI-1
, calcium channel BI-2