Mutation Associated with an Autosomal Dominant Cone-Rod Dystrophy CORD7 Modifies RIM1-Mediated Modulation of Voltage-Dependent Ca2+ Channels

@article{Miki2007MutationAW,
  title={Mutation Associated with an Autosomal Dominant Cone-Rod Dystrophy CORD7 Modifies RIM1-Mediated Modulation of Voltage-Dependent Ca2+ Channels},
  author={Takafumi Miki and Shigeki Kiyonaka and Yoshitsugu Uriu and Michel De Waard and Minoru Wakamuri and Kevin P. Campbell and Yasou Mori},
  journal={Channels},
  year={2007},
  volume={1},
  pages={144 - 147 - 701}
}
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 Ca2+ channel (VDCC) currents and anchors neurotransmitter‑containing vesicles to VDCCs, thereby controlling neurotransmitter release. We demonstrate here that the mouse RIM1 arginine‑to‑histidine substitution (R655H), which… 

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