IndraLab

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Mutated CACNA1A inhibits calcium(2+). 3 / 3
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"Interestingly, a missense CACNA1A mutation (loss-of-function of Ca 2.1 P/Q-type channels) causes childhood absence epilepsy in humans and rodents [78,79]."
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"As a regulator of the formation of P/Q-type calcium channel, CACNA1A mutation can weaken the Cav2.1 function, decrease the Ca 2+ influx, and lead to abnormal function of the P/Q-type calcium channel, which causes abnormality of transmitter release and influences the development of Purkinje fiber and granulosa cells, finally triggering neurological diseases [XREF_BIBR - XREF_BIBR]."
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"We found CACNA1A mutant neurons have reduced lysosomal calcium storage without changing the resting calcium concentration in cytoplasm and the acidification of lysosomes."
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