The giant spectrin bV couples the molecular motors to phototransduction and Usher syndrome type I proteins along their trafficking route
نویسندگان
چکیده
InstitutPasteur,Unité degénétiqueetphysiologiede l’audition,ParisF75015,France InsermUMRS1120,Paris,France UPMC, Paris 6, France Institut Pasteur, PFID-Imagopole, Paris, France Institut de la vision, Syndrome de Usher et autres atteintes rétino-cochléaires, Paris, France Institute of Zoology, Cell and Matrix Biology, Johannes Gutenberg University of Mainz, 55099 Mainz, Germany Collège de France, Paris, France
منابع مشابه
The giant spectrin βV couples the molecular motors to phototransduction and Usher syndrome type I proteins along their trafficking route.
Mutations in the myosin VIIa gene cause Usher syndrome type IB (USH1B), characterized by deaf-blindness. A delay of opsin trafficking has been observed in the retinal photoreceptor cells of myosin VIIa-deficient mice. We identified spectrin βV, the mammalian β-heavy spectrin, as a myosin VIIa- and rhodopsin-interacting partner in photoreceptor cells. Spectrin βV displays a polarized distributio...
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Defects in myosin VIIa, harmonin (a PDZ domain protein), cadherin 23, protocadherin 15 and sans (a putative scaffolding protein), underlie five forms of Usher syndrome type I (USH1). Mouse mutants for all these proteins exhibit disorganization of their hair bundle, which is the mechanotransduction receptive structure of the inner ear sensory cells, the cochlear and vestibular hair cells. We hav...
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