The SNARE protein SNAP-25 is required for normal exocytosis at auditory hair cell ribbon synapses

Autor: Charlotte Calvet, Thibault Peineau, Najate Benamer, Maxence Cornille, Andrea Lelli, Baptiste Plion, Ghizlène Lahlou, Julia Fanchette, Sylvie Nouaille, Jacques Boutet de Monvel, Amrit Estivalet, Philippe Jean, Vincent Michel, Martin Sachse, Nicolas Michalski, Paul Avan, Christine Petit, Didier Dulon, Saaid Safieddine

Publikováno v: iScience, Vol 25, Iss 12, Pp 105628- (2022)

Summary: Hearing depends on fast and sustained calcium-dependent synaptic vesicle fusion at the ribbon synapses of cochlear inner hair cells (IHCs). The implication of the canonical neuronal SNARE complex in this exocytotic process has so far remaine

Externí odkaz: https://doaj.org/article/b93b8ca16eb54c7397c900ea371497c5

Dual AAV-mediated gene therapy restores hearing in a DFNB9 mouse model

Autor: Omar Akil, Saaid Safieddine, Jacques Boutet de Monvel, Charlotte Calvet, Frank M. Dyka, Ghizlene Lahlou, Sylvie Nouaille, Jean-Pierre Hardelin, Paul Avan, Alice Emptoz, Christine Petit, William W. Hauswirth, Lawrence R. Lustig

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America
Proceedings of the National Academy of Sciences of the United States of America, 2019, 116 (10), pp.4496-4501. ⟨10.1073/pnas.1817537116⟩
Proceedings of the National Academy of Sciences of the United States of America, National Academy of Sciences, 2019, 116 (10), pp.4496-4501. ⟨10.1073/pnas.1817537116⟩

Significance In humans, inner ear development is completed in utero, with hearing onset at ∼20 weeks of gestation. However, genetic forms of congenital deafness are typically diagnosed during the neonatal period. Gene therapy approaches in animal m

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a59eb91d9ac9543df3524f03209acd9
https://doi.org/10.1073/pnas.1817537116

Structural Characterization of Whirlin Reveals an Unexpected and Dynamic Supramodule Conformation of Its PDZ Tandem

Autor: Christine Petit, Florent Delhommel, Benjamin Bardiaux, Julia Chamot-Rooke, Michael Nilges, Sébastien Brier, Florence Cordier, Amel Bahloul, Bertrand Raynal, Sylvie Nouaille, Nicolas Wolff, Baptiste Colcombet-Cazenave, Guillaume Bouvier

Publikováno v: Structure
Structure, Elsevier (Cell Press), 2017, 25 (11), pp.1645-1656.e5. ⟨10.1016/j.str.2017.08.013⟩
Structure, 2017, 25 (11), pp.1645-1656.e5. ⟨10.1016/j.str.2017.08.013⟩

International audience; Hearing relies on the transduction of sound-evoked vibrations into electric signals, occurring in the stereocilia bundle of hair cells. The bundle is organized in a staircase pattern formed by rows of packed stereocilia. This

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf6c0f0829c16de0cf89456ba92ad039
https://hal-pasteur.archives-ouvertes.fr/pasteur-02883914

Local gene therapy durably restores vestibular function in a mouse model of Usher syndrome type 1G

Autor: Alice, Emptoz, Vincent, Michel, Andrea, Lelli, Omar, Akil, Jacques, Boutet de Monvel, Ghizlene, Lahlou, Anaïs, Meyer, Typhaine, Dupont, Sylvie, Nouaille, Elody, Ey, Filipa, Franca de Barros, Mathieu, Beraneck, Didier, Dulon, Jean-Pierre, Hardelin, Lawrence, Lustig, Paul, Avan, Christine, Petit, Saaid, Safieddine

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America
Proceedings of the National Academy of Sciences of the United States of America, 2017, 114 (36), pp.9695-9700. ⟨10.1073/pnas.1708894114⟩
Proceedings of the National Academy of Sciences of the United States of America, National Academy of Sciences, 2017, 114 (36), pp.9695-9700. ⟨10.1073/pnas.1708894114⟩

International audience; Our understanding of the mechanisms underlying inherited forms of inner ear deficits has considerably improved during the past 20 y, but we are still far from curative treatments. We investigated gene replacement as a strategy

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::de91960ac6c0a3018d14421e98a3a695
https://hal.science/hal-01661148

Otoancorin, an inner ear protein restricted to the interface between the apical surface of sensory epithelia and their overlying acellular gels, is defective in autosomal recessive deafness DFNB22

Autor: Sylvie Nouaille, Walter E. Nance, Elisabeth Verpy, Guy P. Richardson, Mirna Mustapha, Karen B. Avraham, Xue Zhong Liu, Jacques Loiselet, Marc Lathrop, Richard J. Goodyear, Michel Leibovici, Fredj Tekaia, Moien Kanaan, Ingrid Zwaenepoel, Christine Petit

Publikováno v: Proceedings of the National Academy of Sciences. 99:6240-6245

A 3,673-bp murine cDNA predicted to encode a glycosylphosphatidylinositol-anchored protein of 1,088 amino acids was isolated during a study aimed at identifying transcripts specifically expressed in the inner ear. This inner ear-specific protein, oto

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f4e5e2b9cfe80cbc7ca0dcddd1a5aa3
https://doi.org/10.1073/pnas.082515999