Recombinant Mouse Voltage-dependent P/Q-type calcium channel subunit alpha-1A (Cacna1a), partial

1. 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. PMID: 28688851
2. 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. PMID: 28786379
3. 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. PMID: 27586650
4. 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. PMID: 28377503
5. Cacna1a mutation plays a significant role in protein expression patterns in cerebellum of mutant mice. PMID: 26887908
6. 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. PMID: 26796036
7. Findings demonstrate that the mutant Cav2.1 channel exerts a protective effect against cryogenic brain injury in rolling Nagoya mice PMID: 26616403
8. 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 PMID: 26755585
9. regulation of CaV2.1 channels by calcium sensor proteins is required for normal short-term plasticity PMID: 26755594
10. Thus, GHSR1a differentially inhibits CaV2 channels by Gi/o or Gq protein pathways depending on its mode of activation. PMID: 26283199
11. Genetic ablation of Cacna1a in layer VI neurons produced Absence Epilepsy. PMID: 26758833
12. study showed that spontaneous C mutations causing cerebellar pathology are impaired in motor functions during the neonatal period. PMID: 25907855
13. CACNA1A regulates lysosomal fusion with endosomes and autophagosomes and is required for neuronal homeostasis. PMID: 25811491
14. CaV2.1 Ca2+ channel mutation leads to developmental abnormalities in Cl- transporter expression and GABAA receptor compositions in hippocampal neurons. PMID: 24947601
15. Study of interstrain comparisons providing some insight into the role that specific Purkinje cell firing rate alterations play in the Cacna1a mutant phenotype PMID: 25143538
16. 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. PMID: 26032020
17. cav2.1 calcium channels have roles in regulating inhibitory and excitatory synaptic transmission in the lateral superior olive of mice PMID: 25481823
18. The tottering-6j mouse is a useful model for studying Cav2.1 channel functions and Cacna1a-related diseases, including absence epilepsy. PMID: 26002462
19. LTP was augmented by twofold in R192Q mice. R192Q mice showed significant spatial memory deficits. PMID: 25716839
20. 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. PMID: 25855180
21. The data of this study revealed that P/Q-type channel suppression in adult mice supports the episodic status of EA2 disease. PMID: 24768804
22. Findings suggest that the unaltered inhibitory transmission at multipolar interneuron autapses is due to the expression of specific CaV2.1 channels whose gating is barely affected by the familial hemiplegic migraine type 1 mutation PMID: 24907493
23. two functional classes of wild type or knock-in neurons were distinguished according to the first spike latency, which suggests that a subgroup of neurons may be indirectly activated PMID: 24583041
24. Cav2.1-2.3 have unique contributions to the dynamics at the Schaffer collateral synapse that are engaged by the complex patterns of afferent activity seen in vivo PMID: 24523520
25. Despite pronounced consequences of migraine gene mutations at the neurobiological level, changes in cortical RNA expression in FHM1 migraine mice compared to wild-type are modest. PMID: 23985897
26. Cortical inhibitory interneurons are affected by loss of CaV2.1 channel function, which contributes to the onset of generalized epilepsy. PMID: 23595603
27. This study demonistrated that Synaptic gain-of-function effects of mutant Cav2.1 channels in a mouse model of familial hemiplegic migraine are due to increased basal. PMID: 24849341
28. Calcium {Ca(2+)} entry through beta-adrenergic-stimulated LTCC underlies hypoxia-induced [Ca(2+)]i overload and the ensuing loss of mitochondrial function in intact heart. PMID: 24041537
29. These findings identify an interaction between ankyrin-B and both Cav2.1 and Cav2.2 at the amino acid level that is necessary for proper Cav2.1 and Cav2.2 targeting in vivo. PMID: 24394417
30. The results of this study reveal a mechanism by which a Ca(v)2.1 gating modifier can ameliorate defects associated with a disease-causing mutation in Ca(v)2.1. PMID: 24411734
31. Ths results of this study suggested that Cacna1a transgenic mice can experience migraine-related head pain and can thus serve as unique tools to study the pathogenesis of migraine and test novel antimigraine agents. PMID: 23673147
32. Data indicate that TNFalpha expression and macrophage occurrence were significantly higher in calcium channel Cav2.1 R192Q KI ganglia with respect to wildtype ganglia. PMID: 23326332
33. The mutant CaV2.1 channel in rolling Nagoya and leaner mice plays a different protective role in a brain ischemia model. PMID: 23545255
34. Developmental alteration of patterned input confined to only one of the main afferent cerebellar excitatory synaptic pathways has a role in generating the neurological phenotype associated with the global genomic loss of P/Q-type channel function. PMID: 23516282
35. Excitatory postsynaptic currents in neurons with mutant Cav2.1 (R192Q) showed increased amplitudes and faster recovery from synaptic depression. PMID: 22956801
36. Loss of Cav2.1 calcium channel is associated with an alteration in functional dependency of N-type calcium channel Cav2.2. PMID: 23426690
37. Two distinct patterns of Cav2.1 distribution--scattered and clustered--are found in Purkinje cells. PMID: 23426693
38. These results indicate that tottering-6j is a useful model for functional studies of the Ca(v)2.1 channel. PMID: 22952933
39. Gain in synaptic inhibition shown here would compromise the fidelity of information coding in these neurons and may contribute to impaired cerebellar function resulting from loss-of function mutations in the Ca(V)2.1 channel gene PMID: 20845003
40. In a mouse model with cell type-specific ablation of Cav2.1 channels, ablation of Cav2.1 channels restricted to Purkinje cells is sufficient to cause cerebellar ataxia. PMID: 21870131
41. This study demonistrated that cacna1a gene expression in mouse dorsal raphe nucleus PMID: 22534482
42. Study of episodic ataxia 2 in mutant mice has implications for a haploinsufficiency mechanism at least for some of the Cacna1a mutations leading to a premature stop codon. PMID: 21440913
43. Calcium channel Cacna1a and ELKS1b protein interact in vitro and colocalize in the cerebellum may play a role at the molecular layer synapses of the cerebellum. PMID: 22107844
44. Cav2.1 in Purkinje cells (PCs) is essential for competitive synaptic wiring, cell survival, and the establishment of precise boundaries and reciprocity of biochemical compartments in PCs. PMID: 22279216
45. Data suggest that Ca(v)2.1 P/Q-type Ca(2+) channels in postsynaptic PCs mediate synaptic competition among multiple CFs and trigger synapse elimination in developing cerebellum. PMID: 21628556
46. Th findings of this study suggested that heterozygous mice show age-related emotional changes due to alterations in the serotonin system associated with mutant-type Ca(v)2.1alpha(1). PMID: 19345443
47. Ca2+ influx through presynaptic P/Q-type Ca2+ channels with consequent release of glutamate from recurrent cortical pyramidal cell synapses and activation of NMDA receptors are required for initiation and propagation of the CSD involved in migraine PMID: 21150292
48. Presynaptic VDCCs link the target-derived synapse organizer laminin beta2 to active-zone proteins and function as scaffolding proteins to anchor active-zone proteins to the presynaptic membrane. PMID: 21228161
49. CACNA1A mutation conferred a novel molecular phenotype to P2X3 receptors of trigeminal ganglion neurons via CaMKII-dependent activation of calcineurin. PMID: 20735819
50. Suggest that both Cav2.1 P/Q- and Cav3.1 T-type calcium channels are required for the dynamic control of neuronal oscillations in the inferior olive neurons. PMID: 20547676

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KEGG: mmu:12286

STRING: 10090.ENSMUSP00000112436

UniGene: Mm.334658