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2020Disease mechanisms and gene therapy for Usher syndrome., Hear. Res. 2020 Sep; 394(): 107932.
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2020Inner Ear Gene Therapies Take Off: Current Promises and Future Challenges., J Clin Med 2020 Jul; 9(7): .
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2020Identification of a CDH12 potential candidate genetic variant for an autosomal dominant form of transgrediens and progrediens palmoplantar keratoderma in a Tunisian family., J. Hum. Genet. 2020 Apr; 65(4): 397-410.
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2019Clarin-2 is essential for hearing by maintaining stereocilia integrity and function., EMBO Mol Med 2019 09; 11(9): e10288.
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2019Pejvakin-mediated pexophagy protects auditory hair cells against noise-induced damage., Proc. Natl. Acad. Sci. U.S.A. 2019 04; 116(16): 8010-8017.
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2019Dual AAV-mediated gene therapy restores hearing in a DFNB9 mouse model., Proc. Natl. Acad. Sci. U.S.A. 2019 03; 116(10): 4496-4501.
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2018Predominant role of microglia in brain iron retention in Sanfilippo syndrome, a pediatric neurodegenerative disease., Glia 2018 08; 66(8): 1709-1723.
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2018Clarin-1 gene transfer rescues auditory synaptopathy in model of Usher syndrome, J. Clin. Invest. 2018 Jul;.
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2018Variants in CIB2 cause DFNB48 and not USH1J, Clin. Genet. 2018 Apr;93(4):812-821.
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2018Cone degeneration is triggered by the absence of USH1 proteins but prevented by antioxidant treatments, Sci Rep 2018 Jan;8(1):1968.
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2017CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival, EMBO Mol Med 2017 Dec;9(12):1711-1731.
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2017Otoferlin acts as a Ca2+ sensor for vesicle fusion and vesicle pool replenishment at auditory hair cell ribbon synapses., Elife 2017 11; 6(): .
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2017Conformational switch of harmonin, a submembrane scaffold protein of the hair cell mechanoelectrical transduction machinery, FEBS Lett. 2017 08;591(15):2299-2310.
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2017Impact of Mycotoxins Secreted by Aspergillus Molds on the Inflammatory Response of Human Corneal Epithelial Cells., Toxins (Basel) 2017 06; 9(7): .
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2017Usher syndrome type 1-associated cadherins shape the photoreceptor outer segment, J. Cell Biol. 2017 Jun;216(6):1849-1864.
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2017Spectrin βV adaptive mutations and changes in subcellular location correlate with emergence of hair cell electromotility in mammalians, Proc. Natl. Acad. Sci. U.S.A. 2017 Feb;114(8):2054-2059.
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2016Cadherins in the auditory sensory organ, Shintaro T. Suzuki & Shinji Hirano (eds.), In The Cadherin Superfamily, Springer, Japan. pp 341-361 (2016).
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2016Novel gene function revealed by mouse mutagenesis screens for models of age-related disease, Nat Commun 2016 Aug;7:12444.
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2016An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients, Eur. J. Hum. Genet. 2016 Dec;24(12):1730-1738.
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2016Class III myosins shape the auditory hair bundles by limiting microvilli and stereocilia growth, J. Cell Biol. 2016 Jan;212(2):231-44.
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2015Shotgun proteomics reveals possible mechanisms for cognitive impairment in Mucopolysaccharidosis I mice., Mol. Genet. Metab. 2015 Feb; 114(2): 138-45.
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2014Successful gene therapy in the RPGRIP1-deficient dog: a large model of cone-rod dystrophy, Mol. Ther. 2014 Feb;22(2):265-77.
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2014An unusually powerful mode of low-frequency sound interference due to defective hair bundles of the auditory outer hair cells, Proc. Natl. Acad. Sci. U.S.A. 2014 Jun;111(25):9307-12.
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2014The retinal phenotype of Usher syndrome: pathophysiological insights from animal models, C. R. Biol. 2014 Mar;337(3):167-77.
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2013The giant spectrin βV couples the molecular motors to phototransduction and Usher syndrome type I proteins along their trafficking route, Hum. Mol. Genet. 2013 Sep;22(18):3773-88.
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2013Cadherin defects in inherited human diseases, Prog Mol Biol Transl Sci 2013;116:361-84.
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2012Gene and cell therapies to listen to the inner ear | Les thérapies génique et cellulaire à l’écoute de l’oreille interne, Biofutur, Issue 337, November 2012, Pages 40-42.
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2012Hereditary hearing loss | Atteintes héréditaires de l’audition, Biofutur. Issue 337, November 2012, Pages 28-29.
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2012Usher syndrome (sensorineural deafness and retinitis pigmentosa): pathogenesis, molecular diagnosis and therapeutic approaches, Curr. Opin. Neurol. 2012 Feb;25(1):42-9.
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2012The auditory hair cell ribbon synapse: from assembly to function, Annu. Rev. Neurosci. 2012;35:509-28.
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2010Storage problems in lysosomal diseases., Biochem. Soc. Trans. 2010 Dec; 38(6): 1442-7.
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2010[Stem cell therapy in the inner ear: recent achievements and prospects], Med Sci (Paris) 2010 Nov;26(11):981-5.
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2010Cadherins as targets for genetic diseases, Cold Spring Harb Perspect Biol 2010 Jan;2(1):a003095.
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2010GAP43 overexpression and enhanced neurite outgrowth in mucopolysaccharidosis type IIIB cortical neuron cultures., J. Neurosci. Res. 2010 Jan; 88(1): 202-13.
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2009The outer hair cell of the mammalian cochlea: An outstanding amplifier | La cellule ciliée externe de la cochlée des mammifères: Un amplificateur aux propriétés exceptionnelles, Med Sci (Paris) 2009 ; 25 : 117–120.
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2009[The outer hair cell of the mammalian cochlea: an outstanding amplifier], Med Sci (Paris) 2009 Feb;25(2):117-20.
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2008Myosin VII, Myosins pp 353-373.
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2008alphaII-betaV spectrin bridges the plasma membrane and cortical lattice in the lateral wall of the auditory outer hair cells, J. Cell. Sci. 2008 Oct;121(Pt 20):3347-56.
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2007Shroom2, a myosin-VIIa- and actin-binding protein, directly interacts with ZO-1 at tight junctions, J. Cell. Sci. 2007 Aug;120(Pt 16):2838-50.
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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, Hum. Mol. Genet. 2005 Dec;14(24):3921-32.
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2005Usher I syndrome: unravelling the mechanisms that underlie the cohesion of the growing hair bundle in inner ear sensory cells, J. Cell. Sci. 2005 Oct;118(Pt 20):4593-603.
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2005[Usher syndrome type I and the differentiation of inner ear sensory cells’ hair bundles], Med Sci (Paris) 2005 Aug-Sep;21(8-9):737-40.
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2005PHR1, an integral membrane protein of the inner ear sensory cells, directly interacts with myosin 1c and myosin VIIa, J. Cell. Sci. 2005 Jul;118(Pt 13):2891-9.
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2004Interactions in the network of Usher syndrome type 1 proteins, Hum. Mol. Genet. 2005 Feb;14(3):347-56.
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2004Myosin XVa and whirlin, two deafness gene products required for hair bundle growth, are located at the stereocilia tips and interact directly, Hum. Mol. Genet. 2005 Feb;14(3):401-10.
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2004Unconventional myosin VIIa and vezatin, two proteins crucial for Listeria entry into epithelial cells., J Cell Sci 2004 Apr; 117(Pt 10): 2121-30.
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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.
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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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2001Spatiotemporal expression of otogelin in the developing and adult mouse inner ear, Hear. Res. 2001 Aug;158(1-2):151-9.
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2000Vezatin, a novel transmembrane protein, bridges myosin VIIA to the cadherin-catenins complex., EMBO J 2000 Nov; 19(22): 6020-9.
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2000Unconventional myosin VIIA is a novel A-kinase-anchoring protein, J. Biol. Chem. 2000 Sep;275(38):29654-9.
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2000KCNQ4, a K+ channel mutated in a form of dominant deafness, is expressed in the inner ear and the central auditory pathway, Proc. Natl. Acad. Sci. U.S.A. 2000 Apr;97(8):4333-8.
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2000Targeted disruption of otog results in deafness and severe imbalance, Nat. Genet. 2000 Feb;24(2):139-43.
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1999A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness, Nat. Genet. 1999 Apr;21(4):363-9.
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1999KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness, Cell 1999 Feb;96(3):437-46.
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1998Eya1 expression in the developing ear and kidney: towards the understanding of the pathogenesis of Branchio-Oto-Renal (BOR) syndrome, Dev. Dyn. 1998 Dec;213(4):486-99.
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1997Otogelin: a glycoprotein specific to the acellular membranes of the inner ear, Proc. Natl. Acad. Sci. U.S.A. 1997 Dec;94(26):14450-5.
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1997Towards a molecular understanding of the pathophysiology of Usher syndrome, Journal of Audiological MedicineVolume 6, Issue 3, 1997, Pages 170-184.
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1997Development and differentiation of pituitary cells, Microsc. Res. Tech. 1997 Oct;39(2):98-113.
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1997Expression of myosin VIIA during mouse embryogenesis, Anat. Embryol. 1997 Aug;196(2):159-70.
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1997Cloning of the genes encoding two murine and human cochlear unconventional type I myosins, Genomics 1997 Mar;40(2):332-41.
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1996Comigration of tyrosine hydroxylase- and gonadotropin-releasing hormone-immunoreactive neurons in the nasal area of human embryos, Brain Res. Dev. Brain Res. 1996 Dec;97(2):251-9.
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1996Human Usher 1B/mouse shaker-1: the retinal phenotype discrepancy explained by the presence/absence of myosin VIIA in the photoreceptor cells, Hum. Mol. Genet. 1996 Aug;5(8):1171-8.
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1996Human myosin VIIA responsible for the Usher 1B syndrome: a predicted membrane-associated motor protein expressed in developing sensory epithelia, Proc. Natl. Acad. Sci. U.S.A. 1996 Apr;93(8):3232-7.
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1995Interactions between adenohypophyseal, hypothalamic and nasal presumptive territories during early neurulation process, Endocrine 1995 May;3(5):335-43.
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1993Experimental evidence for the early commitment of the presumptive adenohypophysis, Neuroendocrinology 1993 Dec;58(6):609-15.
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1993Experimental evidence for an early commitment of gonadotropin-releasing hormone neurons, with special regard to their origin from the ectoderm of nasal cavity presumptive territory, Neuroendocrinology 1993 Jun;57(6):991-1002.