Light shed on vision and hearing...( These three proteins were previously kn...)

These three proteins were previously known to be involved in the disease, but mutations in them had only been found in separate groups of patients. In this report, the team of Christine Petit demonstrates that these proteins function together to shape and maintain highly specialized structures at the tips of the sensory cells of the inner ear. It is precisely these structures that are essential for hearing, but which are defective in patients with Usher Syndrome.

Batiste Boeda, Aziz El-Amraoui, Amel Bahloul, Richard Goodyear, Laurent Daviet, Stephane Blanchard, Isabelle Perfettini, Karl R.Fath, Spencer Shorte, Jan Reiners, Anne Houdusse, Pierre Legrain, Uwe Wolfrum, Guy Richardson and Christine Petit Myosin VIIa, harmonin, and cadherin 23, three Usher I gene products cooperate to shape the sensory hair cell bundle EMBO Journal 21(24):6689-6699 (2002).

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Contact: Ellen Peerenboom
ellen.peerenboom@embo.org
0049-6221-8891-108
European Molecular Biology Laboratory
16-Dec-2002

Page: 1
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