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Statements

CACNA1A inhibits Calcium_channels. 11 / 11
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"This gain-of-function mutation results in an impaired open-state voltage-dependent inactivation of the L-type calcium channel, ultimately leading to a markedly prolonged myocardial action potential [ xref , xref ]."
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"As predicted by the genetic variant, patch clamp analysis revealed reduced L-type calcium channel voltage-dependent inactivation in Timothy syndrome iPSC-CMs."
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"We found that about half of the HM patients with the CACAN1A gene mutation had mental retardation, which may be related to the calcium channel impairment caused by the CACNA1A gene mutation."
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"This mutation greatly reduces voltage-dependent inactivation of the calcium channel with little effect on calcium-dependent inactivation ( xref ), and thus may potentially cause a pathogenic calcium overload in cardiac and neuronal cells."
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"Voltage-dependent inactivation of a calcium channel."
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"CACNA1A variants that impair the function of the Cav2.1 calcium channel disrupt the normal release of neurotransmitters, particularly glutamate, thus affecting communication between neurons."
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"In all experiments γ-5 had no significant effect on the modulation of voltage-dependent activation and inactivation of the α 1A calcium channel."
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"In contrast, the cyclin-dependent kinase inhibitor roscovitine, which enhances voltage-dependent inactivation of the L-type calcium channel, was able to decrease the number of tyrosine hydroxylase neurons xref ."
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"We took advantage of a mouse KO strain defective for Cacna1a (Jun et al., 1999) which encodes the P/Q-type Ca 2.1 calcium channel to decrease presynaptic calcium channel function, in order to genetically mimic this effect on OIRD sensitivity."
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"These gain-of-function mutations result in an impaired open-state and voltage-dependent inactivation of the L-type calcium channel, ultimately leading to a markedly prolonged myocardial action potential (delayed ventricular repolarization) ( xref - xref )."
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"CACNA1A gene mutations may impair calcium channel function, causing generalized epilepsy.29, 30 Sometimes, CACNA1Agene mutations occur either in epileptics, or FHM, but sometimes at the same time.31, 32, 33 CACNA1Amutations may also lead to FHM1 by affecting CSD in which the cortical neurons of R192Q mutant mice are the imbalance of excitation and inhibition, thereby reducing the threshold for CSD and accelerating its propagation."
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