-
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.
-
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⟩.
-
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.
-
2022The SNARE protein SNAP-25 is required for normal exocytosis at auditory hair cell ribbon synapses., iScience 2022 Dec; 25(12): 105628.
-
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.
-
2020Deciphering the Unexpected Binding Capacity of the Third PDZ Domain of Whirlin to Various Cochlear Hair Cell Partners., J Mol Biol 2020 11; 432(22): 5920-5937.
-
2019DNABarcodeCompatibility: an R-package for optimizing DNA-barcode combinations in multiplex sequencing experiments, Bioinformatics 2019.
-
2018Clarin-1 gene transfer rescues auditory synaptopathy in model of Usher syndrome., J Clin Invest 2018 Aug; 128(8): 3382-3401.
-
2018Variants in CIB2 cause DFNB48 and not USH1J, Clinical Genetics, 2018, 93 (4), pp.812-821. ⟨10.1111/cge.13170⟩.
-
2018Cone degeneration is triggered by the absence of USH1 proteins but prevented by antioxidant treatments, Scientific Reports, 2018, 8 (1), pp.1968. ⟨10.1038/s41598-018-20171-0⟩.
-
2017CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival, EMBO Molecular Medicine, 2017, 9 (12), pp.1711 - 1731. ⟨10.15252/emmm.201708087⟩.
-
2017Cell dynamics underlying oriented growth of the wing imaginal disc, Development 2017 12;144(23):4406-4421.
-
2017Conformational switch of harmonin, a submembrane scaffold protein of the hair cell mechanoelectrical transduction machinery, FEBS Letters, 2017, 591 (15), pp.2299 - 2310. ⟨10.1002/1873-3468.12729⟩.
-
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⟩.
-
2016High frequency of OTOF mutations in Chinese infants with congenital auditory neuropathy spectrum disorder, Clin. Genet. 2016 Jan;.
-
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⟩.
-
2015A synaptic F-actin network controls otoferlin-dependent exocytosis in auditory inner hair cells, Elife 2015;4.
-
2015Hypervulnerability to Sound Exposure through Impaired Adaptive Proliferation of Peroxisomes., Cell 2015 Nov; 163(4): 894-906.
-
2015EPS8L2 is a new causal gene for childhood onset autosomal recessive progressive hearing loss, Orphanet J Rare Dis 2015;10:96.
-
2015The tip-link molecular complex of the auditory mechano-electrical transduction machinery, Hear. Res. 2015 Dec;330(Pt A):10-7.
-
2015Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder, J. Med. Genet. 2015 May;.
-
2015Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patients, PLoS ONE 2015;10(3):e0120584.
-
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.
-
2014The balance of prickle/spiny-legs isoforms controls the amount of coupling between core and fat PCP systems, Curr. Biol. 2014 Sep;24(18):2111-23.
-
2014Exocytotic Machineries of Vestibular Type I and Cochlear Ribbon Synapses Display Similar Intrinsic Otoferlin-Dependent Ca2+ Sensitivity But a Different Coupling to Ca2+ Channels, Journal of Neuroscience, 2014, 34 (33), pp.10853-10869. ⟨10.1523/JNEUROSCI.0947-14.2014⟩.
-
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.
-
2014Specific aspects of consanguinity: some examples from the Tunisian population, Hum. Hered. 2014;77(1-4):167-74.
-
2014Genetics of auditory mechano-electrical transduction, Pflugers Arch. 2015 Jan;467(1):49-72.
-
2014An unusually powerful mode of low-frequency sound interference due to defective hair bundles of the auditory outer hair cells, Proceedings of the National Academy of Sciences of the United States of America, 2014, 111 (25), pp.9307-12. ⟨10.1073/pnas.1405322111⟩.
-
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.
-
2014Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic deafness, PLoS ONE 2014;9(6):e99797.
-
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.
-
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⟩.
-
2014Successful Gene Therapy in the RPGRIP1-deficient Dog: a Large Model of Cone-Rod Dystrophy., Molecular Therapy, 2014, 22 (2), pp.265-77. ⟨10.1038/mt.2013.232⟩.
-
2013[Gene therapy for human hearing loss: challenges and promises]., Med Sci (Paris) 2013 Oct; 29(10): 883-9.
-
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⟩.
-
2013Auditory hair cell centrioles undergo confined Brownian motion throughout the developmental migration of the kinocilium, Biophys. J. 2013 Jul;105(1):48-58.
-
2013Cadherin defects in inherited human diseases., Prog Mol Biol Transl Sci 2013 ; 116(): 361-84.
-
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.
-
2012Usher syndrome (sensorineural deafness and retinitis pigmentosa): pathogenesis, molecular diagnosis and therapeutic approaches., Curr Opin Neurol 2012 Feb; 25(1): 42-9.
-
2012The auditory hair cell ribbon synapse: from assembly to function., Annu Rev Neurosci 2012 ; 35(): 509-28.
-
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.
-
2011[Cell flow reorients planar polarity in the wing of Drosophila], Med Sci (Paris) 2011 Feb;27(2):117-9.
-
2011Stereocilin connects outer hair cell stereocilia to one another and to the tectorial membrane, J. Comp. Neurol. 2011 Feb;519(2):194-210.
-
2010[Stem cell therapy in the inner ear: recent achievements and prospects]., Med Sci (Paris) 2010 Nov; 26(11): 981-5.
-
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.
-
2010Wrapping up stereocilia rootlets, Cell 2010 May;141(5):748-50.
-
2010Cochlear outer hair cells undergo an apical circumference remodeling constrained by the hair bundle shape, Development 2010 Apr;137(8):1373-83.
-
2010Cadherins as targets for genetic diseases., Cold Spring Harb Perspect Biol 2010 Jan; 2(1): a003095.
-
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.
-
2009Harmonin-b, an actin-binding scaffold protein, is involved in the adaptation of mechanoelectrical transduction by sensory hair cells., Pflugers Arch 2009 Nov; 459(1): 115-30.
-
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.
-
2009Linking genes underlying deafness to hair-bundle development and function, Nat. Neurosci. 2009 Jun;12(6):703-10.
-
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.
-
2008αII-βV spectrin bridges the plasma membrane and cortical lattice in the lateral wall of the auditory outer hair cells, Journal of Cell Science, 2008, 121 (20), pp.3347-3356. ⟨10.1242/jcs.028134⟩.
-
2008Stereocilin-deficient mice reveal the origin of cochlear waveform distortions, Nature 2008 Nov;456(7219):255-8.
-
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.
-
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⟩.
-
2007Shroom2, a myosin-VIIa- and actin-binding protein, directly interacts with ZO-1 at tight junctions., Journal of Cell Science, 2007, 120 (16), pp.2838-50. ⟨10.1242/jcs.002568⟩.
-
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.
-
2006Otoferlin, defective in a human deafness form, is essential for exocytosis at the auditory ribbon synapse., Cell 2006 Oct; 127(2): 277-89.
-
2006Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy, Nat. Genet. 2006 Jul;38(7):770-8.
-
2006From deafness genes to hearing mechanisms: harmony and counterpoint, Trends Mol Med 2006 Feb;12(2):57-64.
-
2005Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells, Human Molecular Genetics, 2005, 14 (24), pp.3921 - 3932. ⟨10.1093/hmg/ddi416⟩.
-
2005Usher I syndrome: unravelling the mechanisms that underlie the cohesion of the growing hair bundle in inner ear sensory cells, Journal of Cell Science, 2005, 118 (20), pp.4593-4603. ⟨10.1242/jcs.02636⟩.
-
2005Syndrome de Usher de type 1 et développement de la touffe ciliaire des cellules sensorielles de l’oreille interne Usher syndrome type I and the differentiation of inner ear sensory cells’ hair bundles, médecine/sciences, 2005, 21 (8-9), pp.737-40. ⟨10.1051/medsci/2005218-9737⟩.
-
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⟩.
-
2005Initial characterization of kinocilin, a protein of the hair cell kinocilium, Hear. Res. 2005 May;203(1-2):144-53.
-
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.
-
2005Interactions in the network of Usher syndrome type 1 proteins, Human Molecular Genetics, 2004, 14, pp.347 - 356. ⟨10.1093/hmg/ddi031⟩.
-
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⟩.
-
2004Memorial lecture-hereditary sensory defects: from genes to pathogenesis, Am. J. Med. Genet. A 2004 Sep;130A(1):3-7.
-
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⟩.
-
2004[Hereditary deafness: molecular genetics], Med Sci (Paris) 2004 Mar;20(3):311-6.
-
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.
-
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.
-
2003Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin., Hum Mol Genet 2003 Mar; 12(5): 463-71.
-
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.
-
2002A subtracted cDNA library from the zebrafish (Danio rerio) embryonic inner ear, Genome Res. 2002 Jun;12(6):1007-11.
-
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.
-
2002MyRIP, a novel Rab effector, enables myosin VIIa recruitment to retinal melanosomes., EMBO Rep 2002 May; 3(5): 463-70.
-
2002A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24-25, Hum. Genet. 2002 Apr;110(4):348-50.
-
2002DFNB31, a recessive form of sensorineural hearing loss, maps to chromosome 9q32-34, Eur. J. Hum. Genet. 2002 Mar;10(3):210-2.
-
2002DFNB21, Adv. Otorhinolaryngol. 2002;61:153-5.
-
2002DFNB9, Adv. Otorhinolaryngol. 2002;61:142-4.