Article
Regulated vesicular trafficking of specific PCDH15 and VLGR1 variants in auditory hair cells.
The Journal of neuroscience : the official journal of the Society for Neuroscience - 3 Oct 2012
Zallocchi Marisa, Delimont Duane, Meehan Daniel T, Cosgrove Dominic
Abstract excerpt
Usher syndrome is a genetically heterogeneous disorder characterized by hearing and balance dysfunction and progressive retinitis pigmentosa. Mouse models carrying mutations for the nine Usher-associated genes have splayed stereocilia, and some show delayed maturation of ribbon synapses suggesting these proteins may play different roles in terminal differentiation of auditory hair cells. The presence of the Usher...
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