Article
Mutation associated with an autosomal dominant cone-rod dystrophy CORD7 modifies RIM1-mediated modulation of voltage-dependent Ca2+ channels.
Channels (Austin, Tex.) - 1 Jan 2000
Miki Takafumi, Kiyonaka Shigeki, Uriu Yoshitsugu, De Waard Michel, Wakamori Minoru, Beedle Aaron M, Campbell Kevin P, Mori Yasuo
Abstract excerpt
Genetic analyses have revealed an association between the gene encoding the Rab3A-interacting molecule (RIM1) and the autosomal dominant cone-rod dystrophy CORD7. However, the pathogenesis of CORD7 remains unclear. We recently revealed that RIM1 regulates voltage-dependent Ca(2+) channel (VDCC) currents and anchors neurotransmitter-containing vesicles to VDCCs, thereby controlling neurotransmitter release. We...
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