Otoferlin, Defective in a Human Deafness Form, Is Essential for Exocytosis at the Auditory Ribbon Synapse

@article{Roux2006OtoferlinDI,
  title={Otoferlin, Defective in a Human Deafness Form, Is Essential for Exocytosis at the Auditory Ribbon Synapse},
  author={Isabelle Roux and Saaid Safieddine and R{\'e}gis Nouvian and M'hamed Grati and M Simmler and Amel Bahloul and Isabelle Perfettini and Morgane Le Gall and Philippe Rostaing and Ghislaine Hamard and Antoine Triller and Paul Avan and Tobias Moser and Christine Petit},
  journal={Cell},
  year={2006},
  volume={127},
  pages={277-289}
}
The auditory inner hair cell (IHC) ribbon synapse operates with an exceptional temporal precision and maintains a high level of neurotransmitter release. However, the molecular mechanisms underlying IHC synaptic exocytosis are largely unknown. We studied otoferlin, a predicted C2-domain transmembrane protein, which is defective in a recessive form of human deafness. We show that otoferlin expression in the hair cells correlates with afferent synaptogenesis and find that otoferlin localizes to… CONTINUE READING
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