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Page 1
Clarin-2 is essential for hearing by maintaining stereocilia integrity and function.
Dunbar LA, Patni P, Aguilar C, Mburu P, Corns L, Wells HR, Delmaghani S, Parker A, Johnson S, Williams D, Esapa CT, Simon MM, Chessum L, Newton S, Dorning J, Jeyarajan P, Morse S, Lelli A, Codner GF, Peineau T, Gopal SR, Alagramam KN, Hertzano R, Dulon D, Wells S, Williams FM, Petit C, Dawson SJ, Brown SD, Marcotti W, El-Amraoui A, Bowl MR. Dunbar LA, et al. Among authors: lelli a. EMBO Mol Med. 2019 Sep;11(9):e10288. doi: 10.15252/emmm.201910288. Epub 2019 Aug 26. EMBO Mol Med. 2019. PMID: 31448880 Free PMC article.
EPS8, encoding an actin-binding protein of cochlear hair cell stereocilia, is a new causal gene for autosomal recessive profound deafness.
Behlouli A, Bonnet C, Abdi S, Bouaita A, Lelli A, Hardelin JP, Schietroma C, Rous Y, Louha M, Cheknane A, Lebdi H, Boudjelida K, Makrelouf M, Zenati A, Petit C. Behlouli A, et al. Among authors: lelli a. Orphanet J Rare Dis. 2014 Apr 17;9:55. doi: 10.1186/1750-1172-9-55. Orphanet J Rare Dis. 2014. PMID: 24741995 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: lelli a. 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.
CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival.
Michel V, Booth KT, Patni P, Cortese M, Azaiez H, Bahloul A, Kahrizi K, Labbé M, Emptoz A, Lelli A, Dégardin J, Dupont T, Aghaie A, Oficjalska-Pham D, Picaud S, Najmabadi H, Smith RJ, Bowl MR, Brown SD, Avan P, Petit C, El-Amraoui A. Michel V, et al. Among authors: lelli a. EMBO Mol Med. 2017 Dec;9(12):1711-1731. doi: 10.15252/emmm.201708087. EMBO Mol Med. 2017. PMID: 29084757 Free PMC article.
Ultrarare heterozygous pathogenic variants of genes causing dominant forms of early-onset deafness underlie severe presbycusis.
Boucher S, Tai FWJ, Delmaghani S, Lelli A, Singh-Estivalet A, Dupont T, Niasme-Grare M, Michel V, Wolff N, Bahloul A, Bouyacoub Y, Bouccara D, Fraysse B, Deguine O, Collet L, Thai-Van H, Ionescu E, Kemeny JL, Giraudet F, Lavieille JP, Devèze A, Roudevitch-Pujol AL, Vincent C, Renard C, Franco-Vidal V, Thibult-Apt C, Darrouzet V, Bizaguet E, Coez A, Aschard H, Michalski N, Lefevre GM, Aubois A, Avan P, Bonnet C, Petit C. Boucher S, et al. Among authors: lelli a. Proc Natl Acad Sci U S A. 2020 Dec 8;117(49):31278-31289. doi: 10.1073/pnas.2010782117. Epub 2020 Nov 23. Proc Natl Acad Sci U S A. 2020. PMID: 33229591 Free PMC article.
Single-cell transcriptomic profiling of the mouse cochlea: An atlas for targeted therapies.
Jean P, Wong Jun Tai F, Singh-Estivalet A, Lelli A, Scandola C, Megharba S, Schmutz S, Roux S, Mechaussier S, Sudres M, Mouly E, Heritier AV, Bonnet C, Mallet A, Novault S, Libri V, Petit C, Michalski N. Jean P, et al. Among authors: lelli a. Proc Natl Acad Sci U S A. 2023 Jun 27;120(26):e2221744120. doi: 10.1073/pnas.2221744120. Epub 2023 Jun 20. Proc Natl Acad Sci U S A. 2023. PMID: 37339214 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: lelli a. 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.
54 results