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

CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival

Autor: Vincent Michel, Kevin T Booth, Pranav Patni, Matteo Cortese, Hela Azaiez, Amel Bahloul, Kimia Kahrizi, Ménélik Labbé, Alice Emptoz, Andrea Lelli, Julie Dégardin, Typhaine Dupont, Asadollah Aghaie, Danuta Oficjalska‐Pham, Serge Picaud, Hossein Najmabadi, Richard J Smith, Michael R Bowl, Steven DM Brown, Paul Avan, Christine Petit, Aziz El‐Amraoui

Publikováno v: EMBO Molecular Medicine, Vol 9, Iss 12, Pp 1711-1731 (2017)

Abstract Defects of CIB2, calcium‐ and integrin‐binding protein 2, have been reported to cause isolated deafness, DFNB48 and Usher syndrome type‐IJ, characterized by congenital profound deafness, balance defects and blindness. We report here tw

Externí odkaz: https://doaj.org/article/e937db1c0a3f42f8996a47b2bad6c98a

Ultrarare heterozygous pathogenic variants of genes causing dominant forms of early-onset deafness underlie severe presbycusis

Autor: Christian Renard, Christine Petit, Yosra Bouyacoub, Sedigheh Delmaghani, Magali Niasme-Grare, Nicolas Michalski, Hung Thai-Van, Olivier Deguine, Anne Aubois, Arnaud Deveze, Jean-Pierre Lavieille, Valérie Franco-Vidal, Anne-Laure Roudevitch-Pujol, Amrit Singh-Estivalet, Arnaud Coez, Vincent Michel, Christophe Vincent, Hugues Aschard, Claire Thibult-Apt, Amel Bahloul, Sophie Boucher, E. Ionescu, Bernard Fraysse, Fabienne Wong Jun Tai, Fabrice Giraudet, Vincent Darrouzet, Typhaine Dupont, Nicolas Wolff, Didier Bouccara, Lionel Collet, Crystel Bonnet, Gaelle M. Lefèvre, Jean-Louis Kemeny, Andrea Lelli, Eric Bizaguet, Paul Avan

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, National Academy of Sciences, 2020, 117 (49), pp.31278-31289. ⟨10.1073/pnas.2010782117⟩
Proceedings of the National Academy of Sciences of the United States of America, 2020, 117 (49), pp.31278-31289. ⟨10.1073/pnas.2010782117⟩
Proc Natl Acad Sci U S A

International audience; Presbycusis, or age-related hearing loss (ARHL), is a major public health issue. About half the phenotypic variance has been attributed to genetic factors. Here, we assessed the contribution to presbycusis of ultrarare pathoge

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26bb30ca4931ea88956d1a4bd7843bdb
https://hal-pasteur.archives-ouvertes.fr/pasteur-03215054

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

Localization of Usher 1 proteins to the photoreceptor calyceal processes, which are absent from mice

Autor: Cataldo Schietroma, Iman Sahly, Diane Carette, Andrea Lelli, Elise Pepermans, Christine Petit, José-Alain Sahel, Vincent Michel, Jean-Pierre Hardelin, Aziz El-Amraoui, Amrit Estivalet, Amel Bahloul, Asadollah Aghaie, Inga Ebermann, Eric Dufour, Dominique Weil, Isabelle Perfettini, Maria Iribarne

Publikováno v: The journal of cell biology
The Journal of Cell Biology
The Journal of Cell Biology; Vol 199

Mice are a poor model for retinal defects caused by type I Usher syndrome (USH1) because their photoreceptors have almost no calyceal processes, the structures in which all USH1 proteins are detected in other vertebrates.
The mechanisms underlyi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::110304185e2e0022d6fbb15a3b14a0bf
https://doi.org/10.1083/jcb.201202012