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Usher type 1G protein sans is a critical component of the tip-link complex, a structure controlling actin polymerization in stereocilia.
Caberlotto E, Michel V, Foucher I, Bahloul A, Goodyear RJ, Pepermans E, Michalski N, Perfettini I, Alegria-Prévot O, Chardenoux S, Do Cruzeiro M, Hardelin JP, Richardson GP, Avan P, Weil D, Petit C. Caberlotto E, et al. Among authors: hardelin jp. Proc Natl Acad Sci U S A. 2011 Apr 5;108(14):5825-30. doi: 10.1073/pnas.1017114108. Epub 2011 Mar 21. Proc Natl Acad Sci U S A. 2011. PMID: 21436032 Free PMC article.
Local gene therapy durably restores vestibular function in a mouse model of Usher syndrome type 1G.
Emptoz A, Michel V, Lelli A, Akil O, Boutet de Monvel J, Lahlou G, Meyer A, Dupont T, Nouaille S, Ey E, Franca de Barros F, Beraneck M, Dulon D, Hardelin JP, Lustig L, Avan P, Petit C, Safieddine S. Emptoz A, et al. Among authors: hardelin jp. Proc Natl Acad Sci U S A. 2017 Sep 5;114(36):9695-9700. doi: 10.1073/pnas.1708894114. Epub 2017 Aug 23. Proc Natl Acad Sci U S A. 2017. PMID: 28835534 Free PMC article.
Dual AAV-mediated gene therapy restores hearing in a DFNB9 mouse model.
Akil O, Dyka F, Calvet C, Emptoz A, Lahlou G, Nouaille S, Boutet de Monvel J, Hardelin JP, Hauswirth WW, Avan P, Petit C, Safieddine S, Lustig LR. Akil O, et al. Among authors: hardelin jp. Proc Natl Acad Sci U S A. 2019 Mar 5;116(10):4496-4501. doi: 10.1073/pnas.1817537116. Epub 2019 Feb 19. Proc Natl Acad Sci U S A. 2019. PMID: 30782832 Free PMC article.
[Hereditary deafness: molecular genetics].
Hardelin JP, Denoyelle F, Levilliers J, Simmler MC, Petit C. Hardelin JP, et al. Med Sci (Paris). 2004 Mar;20(3):311-6. doi: 10.1051/medsci/2004203311. Med Sci (Paris). 2004. PMID: 15067576 Free article. Review. French.
91 results