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

  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},
  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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Causes and consequences of inherited cone disorders

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It is established that loss-of-function mutations in CACNA1F cause incomplete CSNB, making this disorder an example of a human channelopathy of the retina.

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Direct Interaction of the Rab3 Effector RIM with Ca2+Channels, SNAP-25, and Synaptotagmin*

It is proposed that the Rab3 effector RIM is a scaffold protein that participates through its multiple binding partners in the docking and fusion of secretory vesicles at the release sites.

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