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2024A free intravesicular C-terminal of otoferlin is essential for synaptic vesicle docking and fusion at auditory inner hair cell ribbon synapses., Prog Neurobiol 2024 Aug; 240(): 102658.
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2024Extended time frame for restoring inner ear function through gene therapy in Usher1G preclinical model, JCI Insight, 2024, 9 (3), pp.e169504. ⟨10.1172/jci.insight.169504⟩.
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2023Single-cell transcriptomic profiling of the mouse cochlea: An atlas for targeted therapies., Proc Natl Acad Sci U S A 2023 Jun; 120(26): e2221744120.
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2022The SNARE protein SNAP-25 is required for normal exocytosis at auditory hair cell ribbon synapses., iScience 2022 Dec; 25(12): 105628.
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2020Ultrarare heterozygous pathogenic variants of genes causing dominant forms of early-onset deafness underlie severe presbycusis., Proc Natl Acad Sci U S A 2020 12; 117(49): 31278-31289.
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2016An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients, European Journal of Human Genetics, 2016, 24 (12), pp.1730-1738. ⟨10.1038/ejhg.2016.99⟩.
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2016High frequency of OTOF mutations in Chinese infants with congenital auditory neuropathy spectrum disorder, Clin. Genet. 2016 Jan;.
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2016Class III myosins shape the auditory hair bundles by limiting microvilli and stereocilia growth., Journal of Cell Biology, 2016, 212 (2), pp.231-44. ⟨10.1083/jcb.201509017⟩.
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2015A synaptic F-actin network controls otoferlin-dependent exocytosis in auditory inner hair cells, Elife 2015;4.
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2015Hypervulnerability to Sound Exposure through Impaired Adaptive Proliferation of Peroxisomes., Cell 2015 Nov; 163(4): 894-906.
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2015EPS8L2 is a new causal gene for childhood onset autosomal recessive progressive hearing loss, Orphanet J Rare Dis 2015;10:96.
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2015The tip-link molecular complex of the auditory mechano-electrical transduction machinery, Hear. Res. 2015 Dec;330(Pt A):10-7.
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2015Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder, J. Med. Genet. 2015 May;.
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2015Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patients, PLoS ONE 2015;10(3):e0120584.
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2015Diversity of the causal genes in hearing impaired Algerian individuals identified by whole exome sequencing, Mol Genet Genomic Med 2015 May;3(3):189-96.
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2014Targeted high-throughput sequencing identifies pathogenic mutations in KCNQ4 in two large Chinese families with autosomal dominant hearing loss, PLoS ONE 2014;9(8):e103133.
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2014Specific aspects of consanguinity: some examples from the Tunisian population, Hum. Hered. 2014;77(1-4):167-74.
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2014Genetics of auditory mechano-electrical transduction, Pflugers Arch. 2015 Jan;467(1):49-72.
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2014The CD2 isoform of protocadherin-15 is an essential component of the tip-link complex in mature auditory hair cells, EMBO Mol Med 2014 Jul;6(7):984-92.
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2014Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic deafness, PLoS ONE 2014;9(6):e99797.
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2014EPS8, encoding an actin-binding protein of cochlear hair cell stereocilia, is a new causal gene for autosomal recessive profound deafness, Orphanet J Rare Dis 2014;9:55.
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2014The retinal phenotype of Usher syndrome: Pathophysiological insights from animal models Atteinte rétinienne dans le syndrome de Usher : contribution des modèles animaux à la physiopathologie, Comptes Rendus. Biologies, 2014, 337 (3), pp.167 - 177. ⟨10.1016/j.crvi.2013.12.004⟩.
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2013[Gene therapy for human hearing loss: challenges and promises]., Med Sci (Paris) 2013 Oct; 29(10): 883-9.
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2013The giant spectrin βV couples the molecular motors to phototransduction and Usher syndrome type I proteins along their trafficking route, Human Molecular Genetics, 2013, 22 (18), pp.3773 - 3788. ⟨10.1093/hmg/ddt228⟩.
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2013Auditory hair cell centrioles undergo confined Brownian motion throughout the developmental migration of the kinocilium, Biophys. J. 2013 Jul;105(1):48-58.
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2012Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness, Hum. Mol. Genet. 2012 Sep;21(17):3835-44.
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2011Usher type 1G protein sans is a critical component of the tip-link complex, a structure controlling actin polymerization in stereocilia, Proc. Natl. Acad. Sci. U.S.A. 2011 Apr;108(14):5825-30.
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2011Stereocilin connects outer hair cell stereocilia to one another and to the tectorial membrane, J. Comp. Neurol. 2011 Feb;519(2):194-210.
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2010Cadherin-23, myosin VIIa and harmonin, encoded by Usher syndrome type I genes, form a ternary complex and interact with membrane phospholipids, Hum. Mol. Genet. 2010 Sep;19(18):3557-65.
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2010Wrapping up stereocilia rootlets, Cell 2010 May;141(5):748-50.
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2010Cochlear outer hair cells undergo an apical circumference remodeling constrained by the hair bundle shape, Development 2010 Apr;137(8):1373-83.
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2009Myosin VI is required for the proper maturation and function of inner hair cell ribbon synapses., Hum Mol Genet 2009 Dec; 18(23): 4615-28.
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2009Consortin, a trans-Golgi network cargo receptor for the plasma membrane targeting and recycling of connexins, Hum. Mol. Genet. 2010 Jan;19(2):262-75.
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2009Linking genes underlying deafness to hair-bundle development and function, Nat. Neurosci. 2009 Jun;12(6):703-10.
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2009Vezatin, an integral membrane protein of adherens junctions, is required for the sound resilience of cochlear hair cells, EMBO Mol Med 2009 May;1(2):125-38.
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2008Stereocilin-deficient mice reveal the origin of cochlear waveform distortions, Nature 2008 Nov;456(7219):255-8.
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2008A core cochlear phenotype in USH1 mouse mutants implicates fibrous links of the hair bundle in its cohesion, orientation and differential growth, Development 2008 Apr;135(8):1427-37.
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2008[Chapter 8] Mouse Models for Human Hereditary Deafness, Mouse Models of Developmental Genetic Disease, 84, Elsevier, pp.385-429, 2008, Current Topics in Developmental Biology, 978-0-12-374454-8. ⟨10.1016/S0070-2153(08)00608-X⟩.
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2007Molecular characterization of the ankle-link complex in cochlear hair cells and its role in the hair bundle functioning., J Neurosci 2007 Jun; 27(24): 6478-88.
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2006Otoferlin, defective in a human deafness form, is essential for exocytosis at the auditory ribbon synapse., Cell 2006 Oct; 127(2): 277-89.
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2006From deafness genes to hearing mechanisms: harmony and counterpoint, Trends Mol Med 2006 Feb;12(2):57-64.
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2005PHR1, an integral membrane protein of the inner ear sensory cells, directly interacts with myosin 1c and myosin VIIa., Journal of Cell Science, 2005, 118 (13), pp.2891-99. ⟨10.1242/jcs.02424⟩.
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2005Initial characterization of kinocilin, a protein of the hair cell kinocilium, Hear. Res. 2005 May;203(1-2):144-53.
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2005Cadherin 23 is a component of the transient lateral links in the developing hair bundles of cochlear sensory cells, Dev. Biol. 2005 Apr;280(2):281-94.
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2005Myosin XVa and whirlin, two deafness gene products required for hair bundle growth, are located at the stereocilia tips and interact directly, Human Molecular Genetics, 2004, 14 (3), pp.401 - 410. ⟨10.1093/hmg/ddi036⟩.
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2004Memorial lecture-hereditary sensory defects: from genes to pathogenesis, Am. J. Med. Genet. A 2004 Sep;130A(1):3-7.
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2004Unconventional myosin VIIa and vezatin, two proteins crucial for Listeria entry into epithelial cells, Journal of Cell Science, 2004, 117 (Pt 10), pp.2121-2130. ⟨10.1242/jcs.01066⟩.
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2004[Hereditary deafness: molecular genetics], Med Sci (Paris) 2004 Mar;20(3):311-6.
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2004Expression of the connexin43- and connexin45-encoding genes in the developing and mature mouse inner ear, Cell Tissue Res. 2004 Apr;316(1):15-22.
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2003DFNB40, a recessive form of sensorineural hearing loss, maps to chromosome 22q11.21-12.1, Eur. J. Hum. Genet. 2003 Oct;11(10):816-8.
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2002Targeted ablation of connexin26 in the inner ear epithelial gap junction network causes hearing impairment and cell death, Curr. Biol. 2002 Jul;12(13):1106-11.
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2002A subtracted cDNA library from the zebrafish (Danio rerio) embryonic inner ear, Genome Res. 2002 Jun;12(6):1007-11.
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2002Anosmin-1, defective in the X-linked form of Kallmann syndrome, promotes axonal branch formation from olfactory bulb output neurons, Cell 2002 Apr;109(2):217-28.
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2002MyRIP, a novel Rab effector, enables myosin VIIa recruitment to retinal melanosomes., EMBO Rep 2002 May; 3(5): 463-70.
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2002A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24-25, Hum. Genet. 2002 Apr;110(4):348-50.
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2002DFNB31, a recessive form of sensorineural hearing loss, maps to chromosome 9q32-34, Eur. J. Hum. Genet. 2002 Mar;10(3):210-2.
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2002DFNB21, Adv. Otorhinolaryngol. 2002;61:153-5.
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2002DFNB9, Adv. Otorhinolaryngol. 2002;61:142-4.