After a PhD in Neuroscience from the University of Lyon-I in 1995, he joined the Institut Pasteur (Paris) where resorting to dozen identified deafness genes, several of which are involved in Usher syndrome (deafness and blindness in humans), as entry points has enabled him to enlighten both fundamental and medical aspects of hearing & vision functioning and related disorders. Multidisciplinary approaches owing to the biochemical properties of the encoded proteins, identification of their molecular networks, animal modelling of the disease have provided major insights into how the inner ear & eye sensory organs develop an function (Jean-Valade Prize 2005, Fond Mazet-Danet Fondation de France, 2006; Chaire of Excellence Charles Nicolle, Institut Pasteur (2017-2019). In his team “Progressive Sensory Disorders”, the member’s current efforts are focused on late-onset and/or progressive hearing and vision impairments, aiming to i) elucidate the precise underlying pathogenic pathways, and ii) identify therapeutic targets and solutions to delay, prevent and/or cure progressive sense deterioration in animal preclinical models, and accelerate their transfer into clinics.
Orcid : https://orcid.org/0000-0003-2692-4984
Website : https://research.pasteur.fr/en/team/progressive-sensory-disorders-pathophysiology-and-therapy/
Click to view graph
Connections
Click to view timeline
Timeline
Transversal Projects
Projects
CV
Publications
Download-
2018Clarin-1 gene transfer rescues auditory synaptopathy in model of Usher syndrome, J. Clin. Invest. 2018 Jul;.
-
2018Variants in CIB2 cause DFNB48 and not USH1J, Clin. Genet. 2018 Apr;93(4):812-821.
-
2018Cone degeneration is triggered by the absence of USH1 proteins but prevented by antioxidant treatments, Sci Rep 2018 Jan;8(1):1968.
-
2017CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival, EMBO Mol Med 2017 Dec;9(12):1711-1731.
-
2017Usher syndrome type 1-associated cadherins shape the photoreceptor outer segment, J. Cell Biol. 2017 Jun;216(6):1849-1864.
-
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.
-
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, Nat Commun 2016 Aug;7:12444.
-
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.
-
2016Class III myosins shape the auditory hair bundles by limiting microvilli and stereocilia growth, J. Cell Biol. 2016 Jan;212(2):231-44.
-
+View full list of publications