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Hypervulnerability to Sound Exposure through Impaired Adaptive Proliferation of Peroxisomes.
Delmaghani S, Defourny J, Aghaie A, Beurg M, Dulon D, Thelen N, Perfettini I, Zelles T, Aller M, Meyer A, Emptoz A, Giraudet F, Leibovici M, Dartevelle S, Soubigou G, Thiry M, Vizi ES, Safieddine S, Hardelin JP, Avan P, Petit C. Delmaghani S, et al. Among authors: hardelin jp. Cell. 2015 Nov 5;163(4):894-906. doi: 10.1016/j.cell.2015.10.023. Cell. 2015. PMID: 26544938 Free article.
Stereocilin-deficient mice reveal the origin of cochlear waveform distortions.
Verpy E, Weil D, Leibovici M, Goodyear RJ, Hamard G, Houdon C, Lefèvre GM, Hardelin JP, Richardson GP, Avan P, Petit C. Verpy E, et al. Among authors: hardelin jp. Nature. 2008 Nov 13;456(7219):255-8. doi: 10.1038/nature07380. Epub 2008 Oct 8. Nature. 2008. PMID: 18849963 Free PMC article.
Localization of Usher 1 proteins to the photoreceptor calyceal processes, which are absent from mice.
Sahly I, Dufour E, Schietroma C, Michel V, Bahloul A, Perfettini I, Pepermans E, Estivalet A, Carette D, Aghaie A, Ebermann I, Lelli A, Iribarne M, Hardelin JP, Weil D, Sahel JA, El-Amraoui A, Petit C. Sahly I, et al. Among authors: hardelin jp. J Cell Biol. 2012 Oct 15;199(2):381-99. doi: 10.1083/jcb.201202012. Epub 2012 Oct 8. J Cell Biol. 2012. PMID: 23045546 Free PMC article.
Mutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness.
Delmaghani S, Aghaie A, Bouyacoub Y, El Hachmi H, Bonnet C, Riahi Z, Chardenoux S, Perfettini I, Hardelin JP, Houmeida A, Herbomel P, Petit C. Delmaghani S, et al. Among authors: hardelin jp. Am J Hum Genet. 2016 Jun 2;98(6):1266-1270. doi: 10.1016/j.ajhg.2016.04.015. Am J Hum Genet. 2016. PMID: 27259055 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.
Otoferlin acts as a Ca2+ sensor for vesicle fusion and vesicle pool replenishment at auditory hair cell ribbon synapses.
Michalski N, Goutman JD, Auclair SM, Boutet de Monvel J, Tertrais M, Emptoz A, Parrin A, Nouaille S, Guillon M, Sachse M, Ciric D, Bahloul A, Hardelin JP, Sutton RB, Avan P, Krishnakumar SS, Rothman JE, Dulon D, Safieddine S, Petit C. Michalski N, et al. Among authors: hardelin jp. Elife. 2017 Nov 7;6:e31013. doi: 10.7554/eLife.31013. Elife. 2017. PMID: 29111973 Free PMC article.
[Congenital deafness forms: progressing toward gene therapy?].
Hardelin JP, Safieddine S. Hardelin JP, et al. Med Sci (Paris). 2019 Dec;35(12):1213-1215. doi: 10.1051/medsci/2019233. Epub 2020 Jan 6. Med Sci (Paris). 2019. PMID: 31903944 Free article. French. No abstract available.
91 results