-
2025Advancing precision ear medicine: leveraging animal models for disease insights and therapeutic innovations., Mamm Genome 2025 Jun; 36(2): 417-443.
-
2025Deciphering Auditory Hyperexcitability in Otogl Mutant Mice Unravels an Auditory Neuropathy Mechanism., Adv Sci (Weinh) 2025 Feb; (): e2410776.
-
2025Down Syndrome: How a gene fuels ear infections, eLife, 2025, 14, pp.e105612. ⟨10.7554/eLife.105612⟩.
-
2024Direct delivery of Cas9 or base editor protein and guide RNA complex enables genome editing in the retina., Mol Ther Nucleic Acids 2024 Dec; 35(4): 102349.
-
2024Progress and Challenges for Gene Therapy for Hearing and Balance Disorders, Adrien A Eshraghi. Overcoming Hearing Loss: From Drug Therapy to Cochlear Implant Surgery, WORLD SCIENTIFIC, pp.201-219, 2024, 978-981-12-8798-5 (ebook). ⟨10.1142/9789811287978_0013⟩.
-
2024Clarin-2 gene supplementation durably preserves hearing in a model of progressive hearing loss., Mol Ther 2024 Jan; (): .
-
2022The SNARE protein SNAP-25 is required for normal exocytosis at auditory hair cell ribbon synapses., iScience 2022 Dec; 25(12): 105628.
-
2022Usher syndrome Recent advances in our understanding of genes and therapeutics, Research Outreach, 2022, 131, ⟨10.32907/RO-131-3039996892⟩.
-
2022Déficience auditive induite par le bruit : comment peut-elle être prévenue et traitée ?, Planet-Vie, 2022.
-
2022Vestibular Deficits in Deafness: Clinical Presentation, Animal Modeling, and Treatment Solutions, Frontiers in Neurology, 2022, 13, pp.816534. ⟨10.3389/fneur.2022.816534⟩.
-
2022The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification, Human Genetics, 2022, 141 (3-4), pp.709-735. ⟨10.1007/s00439-022-02448-7⟩.
-
2022Comparison of rule- and ordinary differential equation-based dynamic model of DARPP-32 signalling network., PeerJ 2022 ; 10(): e14516.
-
2021Vieillissement de l’oreille interne : bases génétiques et conséquences à l’échelle cellulaire et moléculaire., Le vieillissement cochléo-vestibulaire : Rapport SFORL 2021, Elsevier Masson, pp.23-34, 2021, 9782294772948.
-
2021A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans, Human Genetics, 2021, 140 (6), pp.915 - 931. ⟨10.1007/s00439-020-02254-z⟩.
-
2021Review of Genotype-Phenotype Correlations in Usher Syndrome, Ear & Hearing, 2022, 43 (1), pp.1-8. ⟨10.1097/AUD.0000000000001066⟩.
-
2021A unified resource and configurable model of the synapse proteome and its role in disease., Sci Rep 2021 May; 11(1): 9967.
-
2021Stem Cells and Gene Therapy in Progressive Hearing Loss: the State of the Art, Journal of the Association for Research in Otolaryngology, 2021, 22 (2), pp.95-105. ⟨10.1007/s10162-020-00781-0⟩.
-
2021Progress in Gene Editing Tools and Their Potential for Correcting Mutations Underlying Hearing and Vision Loss, Frontiers in Genome Editing, 2021, 3, pp.737632. ⟨10.3389/fgeed.2021.737632⟩.
-
2020Disease mechanisms and gene therapy for Usher syndrome, Hearing Research, 2020, 394, pp.107932. ⟨10.1016/j.heares.2020.107932⟩.
-
2020Inner Ear Gene Therapies Take Off: Current Promises and Future Challenges, Journal of Clinical Medicine, 2020, 9 (7), pp.2309. ⟨10.3390/jcm9072309⟩.
-
2020Identification of a CDH12 potential candidate genetic variant for an autosomal dominant form of transgrediens and progrediens palmoplantar keratoderma in a Tunisian family, Journal of Human Genetics, 2020, 65 (4), pp.397 - 410. ⟨10.1038/s10038-019-0711-4⟩.
-
2019Clarin‐2 is essential for hearing by maintaining stereocilia integrity and function, EMBO Molecular Medicine, 2019, 11 (9), pp.e10288. ⟨10.15252/emmm.201910288⟩.
-
2019Pejvakin-mediated pexophagy protects auditory hair cells against noise-induced damage., Proc. Natl. Acad. Sci. U.S.A. 2019 04; 116(16): 8010-8017.
-
2018Clarin-1 gene transfer rescues auditory synaptopathy in model of Usher syndrome., J Clin Invest 2018 Aug; 128(8): 3382-3401.
-
2018Predominant role of microglia in brain iron retention in Sanfilippo syndrome, a pediatric neurodegenerative disease., Glia 2018 08; 66(8): 1709-1723.
-
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⟩.
-
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⟩.
-
2017Impact of Mycotoxins Secreted by Aspergillus Molds on the Inflammatory Response of Human Corneal Epithelial Cells., Toxins (Basel) 2017 06; 9(7): .
-
2017Usher syndrome type 1–associated cadherins shape the photoreceptor outer segment, Journal of Cell Biology, 2017, 216 (6), pp.1849 - 1864. ⟨10.1083/jcb.201612030⟩.
-
2017Spectrin βV adaptive mutations and changes in subcellular location correlate with emergence of hair cell electromotility in mammalians., Proceedings of the National Academy of Sciences of the United States of America, 2017, 114 (8), pp.2054-2059. ⟨10.1073/pnas.1618778114⟩.
-
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⟩.
-
2016Cadherins in the auditory sensory organ, Shintaro T. Suzuki & Shinji Hirano (eds.), In The Cadherin Superfamily, Springer, Japan. pp 341-361 (2016).
-
2016Novel gene function revealed by mouse mutagenesis screens for models of age-related disease, Nature Communications, 2016, 7, pp.12444. ⟨10.1038/ncomms12444⟩.
-
2016Cadherins in the Auditory Sensory Organ, Suzuki, S; Hirano, S. The Cadherin Superfamily, Springer, pp.341 - 361, 2016, 978-4-431-56033-3. ⟨10.1007/978-4-431-56033-3_13⟩.
-
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⟩.
-
2015Shotgun proteomics reveals possible mechanisms for cognitive impairment in Mucopolysaccharidosis I mice., Mol. Genet. Metab. 2015 Feb; 114(2): 138-45.
-
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 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⟩.
-
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⟩.
-
2013Cadherin defects in inherited human diseases., Prog Mol Biol Transl Sci 2013 ; 116(): 361-84.
-
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.
-
2012Hereditary hearing loss | Atteintes héréditaires de l’audition, Biofutur. Issue 337, November 2012, Pages 28-29.
-
2012Localization of Usher 1 proteins to the photoreceptor calyceal processes, which are absent from mice., J Cell Biol 2012 Oct; 199(2): 381-99.
-
2012Pivotal role of M-DC8+ monocytes from viremic HIV-infected patients in TNF overproduction in response to microbial products., Blood, 2012, 120 (11), pp.2259-2268. ⟨10.1182/blood-2012-03-418681⟩.
-
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.
-
2011Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis., Orphanet Journal of Rare Diseases, 2011, 6 (1), pp.21. ⟨10.1186/1750-1172-6-21⟩.
-
2010Storage problems in lysosomal diseases., Biochem. Soc. Trans. 2010 Dec; 38(6): 1442-7.
-
2010[Stem cell therapy in the inner ear: recent achievements and prospects]., Med Sci (Paris) 2010 Nov; 26(11): 981-5.
-
2010Cadherins as targets for genetic diseases., Cold Spring Harb Perspect Biol 2010 Jan; 2(1): a003095.
-
2010GAP43 overexpression and enhanced neurite outgrowth in mucopolysaccharidosis type IIIB cortical neuron cultures., J. Neurosci. Res. 2010 Jan; 88(1): 202-13.
-
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.
-
2009[The outer hair cell of the mammalian cochlea: an outstanding amplifier]., Med Sci (Paris) 2009 Feb; 25(2): 117-20.
-
2008Myosin VII, Myosins pp 353-373.
-
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⟩.
-
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⟩.
-
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⟩.
-
2005Vezatin, a protein associated to adherens junctions, is required for mouse blastocyst morphogenesis., Dev Biol 2005 Nov; 287(1): 180-91.
-
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⟩.
-
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⟩.
-
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⟩.
-
2003Rab27A and its effector MyRIP link secretory granules to F-actin and control their motion towards release sites, Journal of Cell Biology, 2003, 163 (3), pp.559. ⟨10.1083/jcb.200302157⟩.
-
2003Differential distribution of harmonin isoforms and their possible role in Usher-1 protein complexes in mammalian photoreceptor cells., Invest Ophthalmol Vis Sci 2003 Nov; 44(11): 5006-15.
-
2003Involvement of the Rab27 binding protein Slac2c/MyRIP in insulin exocytosis., Mol Biol Cell 2003 Oct; 14(10): 4103-13.
-
2003Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31, Nature Genetics, 2003, 34, pp.421-428. ⟨10.1038/ng1208⟩.
-
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.
-
2002Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle., EMBO J 2002 Dec; 21(24): 6689-99.
-
2002MyRIP, a novel Rab effector, enables myosin VIIa recruitment to retinal melanosomes., EMBO Rep 2002 May; 3(5): 463-70.
-
2001Spatiotemporal expression of otogelin in the developing and adult mouse inner ear, Hear. Res. 2001 Aug;158(1-2):151-9.
-
2000Vezatin, a novel transmembrane protein, bridges myosin VIIA to the cadherin-catenins complex, EMBO Journal, 2000, 19 (22), pp.6020-6029. ⟨10.1093/emboj/19.22.6020⟩.
-
2000Unconventional Myosin VIIA Is a Novel A-kinase-anchoring Protein, Journal of Biological Chemistry, 2000, 275 (38), pp.29654-29659. ⟨10.1074/jbc.M004393200⟩.
-
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.
-
2000Targeted disruption of otog results in deafness and severe imbalance, Nat. Genet. 2000 Feb;24(2):139-43.
-
1999A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness, Nature Genetics, 1999, 21 (4), pp.363-369. ⟨10.1038/7693⟩.
-
1999KCNQ4, a Novel Potassium Channel Expressed in Sensory Outer Hair Cells, Is Mutated in Dominant Deafness, Cell, 1999, 96 (3), pp.437-446. ⟨10.1016/s0092-8674(00)80556-5⟩.
-
1998Eya1 expression in the developing ear and kidney: Towards the understanding of the pathogenesis of branchio-oto-renal (BOR) syndrome, Developmental Dynamics, 1998, 213 (4), pp.486-499. <a target="_blank" href="https://dx.doi.org/10.1002/(SICI)1097-0177(199812)213:43.0.CO;2-L">⟨10.1002/(SICI)1097-0177(199812)213:43.0.CO;2-L⟩.
-
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.
-
1997Towards a molecular understanding of the pathophysiology of Usher syndrome, Journal of Audiological MedicineVolume 6, Issue 3, 1997, Pages 170-184.
-
1997Development and differentiation of pituitary cells, Microscopy Research and Technique, 1997, Special Issue: Functional Anatomy of the Pituitary Gland and Alterations in Disease, 39 (2), pp.98-113. <a target="_blank" href="https://dx.doi.org/10.1002/(SICI)1097-0029(19971015)39:23.0.CO;2-S">⟨10.1002/(SICI)1097-0029(19971015)39:23.0.CO;2-S⟩.
-
1997Expression of myosin VIIA during mouse embryogenesis, Anatomy and Embryology, 1997, 196 (2), pp.159-170. ⟨10.1007/s004290050088⟩.
-
1997Cloning of the Genes Encoding Two Murine and Human Cochlear Unconventional Type I Myosins, Genomics, 1997, 40 (2), pp.332-341. ⟨10.1006/geno.1996.4526⟩.
-
1996Comigration of tyrosine hydroxylase- and gonadotropin-releasing hormone-immunoreactive neurons in the nasal area of human embryos, Developmental Brain Research, 1996, 97 (2), pp.251-259. ⟨10.1016/s0165-3806(96)00147-2⟩.
-
1996Human Usher 1B/mouse shaker-1: the retinal phenotype discrepancy explained by the presence/absence of myosin VIIA in the photoreceptor cells, Human Molecular Genetics, 1996, 5 (8), pp.1171-1178. ⟨10.1093/hmg/5.8.1171⟩.
-
1996Human myosin VIIA responsible for the Usher 1B syndrome: a predicted membrane-associated motor protein expressed in developing sensory epithelia., Proceedings of the National Academy of Sciences of the United States of America, 1996, 93 (8), pp.3232-3237. ⟨10.1073/pnas.93.8.3232⟩.
-
1995Interactions between adenohypophyseal, hypothalamic and nasal presumptive territories during early neurulation process, Endocrine 1995 May;3(5):335-43.
-
1993Experimental Evidence for the Early Commitment of the Presumptive Adenohypophysis, Neuroendocrinology, 2004, 58 (6), pp.609-615. ⟨10.1159/000126599⟩.
-
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.