Loss of function of Ywhah in mice induces deafness and cochlear outer hair cells' degeneration
Identifieur interne : 000242 ( Main/Exploration ); précédent : 000241; suivant : 000243Loss of function of Ywhah in mice induces deafness and cochlear outer hair cells' degeneration
Auteurs : L. Buret [France] ; G. Rebillard [France] ; E. Brun [France] ; C. Angebault [France] ; M. Pequignot [France] ; M. Lenoir [France] ; M. Do-Cruzeiro [France] ; E. Tournier [France] ; K. Cornille [France] ; A. Saleur [France] ; N. Gueguen [France] ; P. Reynier [France] ; P. Amati-Bonneau [France] ; A. Barakat [Maroc] ; C. Blanchet [France] ; P. Chinnery [Royaume-Uni] ; P. Yu-Wai-Man [Royaume-Uni] ; J. Kaplan [France] ; A-F Roux [France] ; G. Van Camp [Belgique] ; B. Wissinger [Allemagne] ; O. Boespflug-Tanguy [France] ; F. Giraudet [France] ; J-L Puel [France] ; G. Lenaers [France] ; C. Hamel [France] ; B. Delprat [France] ; C. Delettre [France]Source :
- Cell Death Discovery [ 2058-7716 ] ; 2016.
Abstract
In vertebrates, 14-3-3 proteins form a family of seven highly conserved isoforms with chaperone activity, which bind phosphorylated substrates mostly involved in regulatory and checkpoint pathways. 14-3-3 proteins are the most abundant protein in the brain and are abundantly found in the cerebrospinal fluid in neurodegenerative diseases, suggesting a critical role in neuron physiology and death. Here we show that 14-3-3eta-deficient mice displayed auditory impairment accompanied by cochlear hair cells' degeneration. We show that 14-3-3eta is highly expressed in the outer and inner hair cells, spiral ganglion neurons of cochlea and retinal ganglion cells. Screening of
Url:
DOI: 10.1038/cddiscovery.2016.17
PubMed: 27275396
PubMed Central: 4893315
Affiliations:
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Brun</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>INSERM U1051, Institute of Neurosciences of Montpellier</institution>, Montpellier,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Biology and Health Sciences, University of Montpellier</institution>, Montpellier,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Angebault, C" sort="Angebault, C" uniqKey="Angebault C" first="C" last="Angebault">C. 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Pequignot</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>INSERM U1051, Institute of Neurosciences of Montpellier</institution>, Montpellier,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Biology and Health Sciences, University of Montpellier</institution>, Montpellier,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Lenoir, M" sort="Lenoir, M" uniqKey="Lenoir M" first="M" last="Lenoir">M. Lenoir</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>INSERM U1051, Institute of Neurosciences of Montpellier</institution>, Montpellier,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Biology and Health Sciences, University of Montpellier</institution>, Montpellier,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Do Cruzeiro, M" sort="Do Cruzeiro, M" uniqKey="Do Cruzeiro M" first="M" last="Do-Cruzeiro">M. Do-Cruzeiro</name><affiliation wicri:level="1"><nlm:aff id="aff3"><institution>Homologuous Recombination, Cochin Institute, University Paris Descartes</institution>, Paris,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Tournier, E" sort="Tournier, E" uniqKey="Tournier E" first="E" last="Tournier">E. Tournier</name><affiliation wicri:level="1"><nlm:aff id="aff3"><institution>Homologuous Recombination, Cochin Institute, University Paris Descartes</institution>, Paris,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Cornille, K" sort="Cornille, K" uniqKey="Cornille K" first="K" last="Cornille">K. Cornille</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>INSERM U1051, Institute of Neurosciences of Montpellier</institution>, Montpellier,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Biology and Health Sciences, University of Montpellier</institution>, Montpellier,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Saleur, A" sort="Saleur, A" uniqKey="Saleur A" first="A" last="Saleur">A. Saleur</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>INSERM U1051, Institute of Neurosciences of Montpellier</institution>, Montpellier,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Biology and Health Sciences, University of Montpellier</institution>, Montpellier,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Gueguen, N" sort="Gueguen, N" uniqKey="Gueguen N" first="N" last="Gueguen">N. Gueguen</name><affiliation wicri:level="1"><nlm:aff id="aff4"><institution>Department of Ophthalmology, Angers University Hospital</institution>, Angers,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Reynier, P" sort="Reynier, P" uniqKey="Reynier P" first="P" last="Reynier">P. Reynier</name><affiliation wicri:level="1"><nlm:aff id="aff4"><institution>Department of Ophthalmology, Angers University Hospital</institution>, Angers,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Amati Bonneau, P" sort="Amati Bonneau, P" uniqKey="Amati Bonneau P" first="P" last="Amati-Bonneau">P. Amati-Bonneau</name><affiliation wicri:level="1"><nlm:aff id="aff4"><institution>Department of Ophthalmology, Angers University Hospital</institution>, Angers,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Barakat, A" sort="Barakat, A" uniqKey="Barakat A" first="A" last="Barakat">A. Barakat</name><affiliation wicri:level="1"><nlm:aff id="aff5"><institution>Laboratory of Human Genetic and Molecular Biology, Pasteur Institute</institution>, Casablanca,<country>Morocco</country></nlm:aff><country xml:lang="fr">Maroc</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Blanchet, C" sort="Blanchet, C" uniqKey="Blanchet C" first="C" last="Blanchet">C. Blanchet</name><affiliation wicri:level="1"><nlm:aff id="aff6"><institution>CHRU Montpellier, Centre of Reference for Genetic Sensory Diseases, CHU, Gui de Chauliac Hospital</institution>, Montpellier,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Chinnery, P" sort="Chinnery, P" uniqKey="Chinnery P" first="P" last="Chinnery">P. Chinnery</name><affiliation wicri:level="1"><nlm:aff id="aff7"><institution>Mitochondrial Research Group, Institute of Ageing and Health, The Medical School, Newcastle University</institution>, Newcastle,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Yu Wai Man, P" sort="Yu Wai Man, P" uniqKey="Yu Wai Man P" first="P" last="Yu-Wai-Man">P. Yu-Wai-Man</name><affiliation wicri:level="1"><nlm:aff id="aff7"><institution>Mitochondrial Research Group, Institute of Ageing and Health, The Medical School, Newcastle University</institution>, Newcastle,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Kaplan, J" sort="Kaplan, J" uniqKey="Kaplan J" first="J" last="Kaplan">J. Kaplan</name><affiliation wicri:level="1"><nlm:aff id="aff8"><institution>Laboratory of Genetics in Ophthalmology, Inserm UMR1163, Institut Imagine, Université Paris Descartes Sorbonne Paris Cité, Hôpital Necker</institution>, Paris,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Roux, A F" sort="Roux, A F" uniqKey="Roux A" first="A-F" last="Roux">A-F Roux</name><affiliation wicri:level="1"><nlm:aff id="aff9"><institution>Laboratory of Molecular Genetic, CHU Arnaud de Villeneuve</institution>, Montpellier,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Van Camp, G" sort="Van Camp, G" uniqKey="Van Camp G" first="G" last="Van Camp">G. Van Camp</name><affiliation wicri:level="1"><nlm:aff id="aff10"><institution>Center of Medical Genetics, Department of Biomedical Sciences, University of Antwerp</institution>, Antwerp,<country>Belgium</country></nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Wissinger, B" sort="Wissinger, B" uniqKey="Wissinger B" first="B" last="Wissinger">B. Wissinger</name><affiliation wicri:level="1"><nlm:aff id="aff11"><institution>Molecular Genetics Laboratory, Institute for Ophthalmic Research</institution>, Tuebingen,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Boespflug Tanguy, O" sort="Boespflug Tanguy, O" uniqKey="Boespflug Tanguy O" first="O" last="Boespflug-Tanguy">O. Boespflug-Tanguy</name><affiliation wicri:level="1"><nlm:aff id="aff12"><institution>Neurobiology and Metabolic Diseases, Hospital Robert Debré</institution>, Paris,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Giraudet, F" sort="Giraudet, F" uniqKey="Giraudet F" first="F" last="Giraudet">F. Giraudet</name><affiliation wicri:level="1"><nlm:aff id="aff13"><institution>Laboratory of Neurosensorial Biophysic, UMR INSERM 1107, Faculty of Medicine – Auvergne University</institution>, Clermont Ferrand,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Puel, J L" sort="Puel, J L" uniqKey="Puel J" first="J-L" last="Puel">J-L Puel</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>INSERM U1051, Institute of Neurosciences of Montpellier</institution>, Montpellier,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Biology and Health Sciences, University of Montpellier</institution>, Montpellier,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Lenaers, G" sort="Lenaers, G" uniqKey="Lenaers G" first="G" last="Lenaers">G. Lenaers</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>INSERM U1051, Institute of Neurosciences of Montpellier</institution>, Montpellier,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Biology and Health Sciences, University of Montpellier</institution>, Montpellier,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Hamel, C" sort="Hamel, C" uniqKey="Hamel C" first="C" last="Hamel">C. Hamel</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>INSERM U1051, Institute of Neurosciences of Montpellier</institution>, Montpellier,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Biology and Health Sciences, University of Montpellier</institution>, Montpellier,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff6"><institution>CHRU Montpellier, Centre of Reference for Genetic Sensory Diseases, CHU, Gui de Chauliac Hospital</institution>, Montpellier,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Delprat, B" sort="Delprat, B" uniqKey="Delprat B" first="B" last="Delprat">B. Delprat</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>INSERM U1051, Institute of Neurosciences of Montpellier</institution>, Montpellier,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Biology and Health Sciences, University of Montpellier</institution>, Montpellier,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Delettre, C" sort="Delettre, C" uniqKey="Delettre C" first="C" last="Delettre">C. 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Buret</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>INSERM U1051, Institute of Neurosciences of Montpellier</institution>, Montpellier,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Biology and Health Sciences, University of Montpellier</institution>, Montpellier,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Rebillard, G" sort="Rebillard, G" uniqKey="Rebillard G" first="G" last="Rebillard">G. Rebillard</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>INSERM U1051, Institute of Neurosciences of Montpellier</institution>, Montpellier,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Biology and Health Sciences, University of Montpellier</institution>, Montpellier,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Brun, E" sort="Brun, E" uniqKey="Brun E" first="E" last="Brun">E. Brun</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>INSERM U1051, Institute of Neurosciences of Montpellier</institution>, Montpellier,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Biology and Health Sciences, University of Montpellier</institution>, Montpellier,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Angebault, C" sort="Angebault, C" uniqKey="Angebault C" first="C" last="Angebault">C. Angebault</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>INSERM U1051, Institute of Neurosciences of Montpellier</institution>, Montpellier,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Biology and Health Sciences, University of Montpellier</institution>, Montpellier,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Pequignot, M" sort="Pequignot, M" uniqKey="Pequignot M" first="M" last="Pequignot">M. Pequignot</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>INSERM U1051, Institute of Neurosciences of Montpellier</institution>, Montpellier,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Biology and Health Sciences, University of Montpellier</institution>, Montpellier,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Lenoir, M" sort="Lenoir, M" uniqKey="Lenoir M" first="M" last="Lenoir">M. Lenoir</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>INSERM U1051, Institute of Neurosciences of Montpellier</institution>, Montpellier,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Biology and Health Sciences, University of Montpellier</institution>, Montpellier,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Do Cruzeiro, M" sort="Do Cruzeiro, M" uniqKey="Do Cruzeiro M" first="M" last="Do-Cruzeiro">M. Do-Cruzeiro</name><affiliation wicri:level="1"><nlm:aff id="aff3"><institution>Homologuous Recombination, Cochin Institute, University Paris Descartes</institution>, Paris,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Tournier, E" sort="Tournier, E" uniqKey="Tournier E" first="E" last="Tournier">E. Tournier</name><affiliation wicri:level="1"><nlm:aff id="aff3"><institution>Homologuous Recombination, Cochin Institute, University Paris Descartes</institution>, Paris,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Cornille, K" sort="Cornille, K" uniqKey="Cornille K" first="K" last="Cornille">K. Cornille</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>INSERM U1051, Institute of Neurosciences of Montpellier</institution>, Montpellier,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Biology and Health Sciences, University of Montpellier</institution>, Montpellier,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Saleur, A" sort="Saleur, A" uniqKey="Saleur A" first="A" last="Saleur">A. Saleur</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>INSERM U1051, Institute of Neurosciences of Montpellier</institution>, Montpellier,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Biology and Health Sciences, University of Montpellier</institution>, Montpellier,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Gueguen, N" sort="Gueguen, N" uniqKey="Gueguen N" first="N" last="Gueguen">N. Gueguen</name><affiliation wicri:level="1"><nlm:aff id="aff4"><institution>Department of Ophthalmology, Angers University Hospital</institution>, Angers,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Reynier, P" sort="Reynier, P" uniqKey="Reynier P" first="P" last="Reynier">P. Reynier</name><affiliation wicri:level="1"><nlm:aff id="aff4"><institution>Department of Ophthalmology, Angers University Hospital</institution>, Angers,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Amati Bonneau, P" sort="Amati Bonneau, P" uniqKey="Amati Bonneau P" first="P" last="Amati-Bonneau">P. Amati-Bonneau</name><affiliation wicri:level="1"><nlm:aff id="aff4"><institution>Department of Ophthalmology, Angers University Hospital</institution>, Angers,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Barakat, A" sort="Barakat, A" uniqKey="Barakat A" first="A" last="Barakat">A. Barakat</name><affiliation wicri:level="1"><nlm:aff id="aff5"><institution>Laboratory of Human Genetic and Molecular Biology, Pasteur Institute</institution>, Casablanca,<country>Morocco</country></nlm:aff><country xml:lang="fr">Maroc</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Blanchet, C" sort="Blanchet, C" uniqKey="Blanchet C" first="C" last="Blanchet">C. Blanchet</name><affiliation wicri:level="1"><nlm:aff id="aff6"><institution>CHRU Montpellier, Centre of Reference for Genetic Sensory Diseases, CHU, Gui de Chauliac Hospital</institution>, Montpellier,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Chinnery, P" sort="Chinnery, P" uniqKey="Chinnery P" first="P" last="Chinnery">P. Chinnery</name><affiliation wicri:level="1"><nlm:aff id="aff7"><institution>Mitochondrial Research Group, Institute of Ageing and Health, The Medical School, Newcastle University</institution>, Newcastle,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Yu Wai Man, P" sort="Yu Wai Man, P" uniqKey="Yu Wai Man P" first="P" last="Yu-Wai-Man">P. Yu-Wai-Man</name><affiliation wicri:level="1"><nlm:aff id="aff7"><institution>Mitochondrial Research Group, Institute of Ageing and Health, The Medical School, Newcastle University</institution>, Newcastle,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Kaplan, J" sort="Kaplan, J" uniqKey="Kaplan J" first="J" last="Kaplan">J. Kaplan</name><affiliation wicri:level="1"><nlm:aff id="aff8"><institution>Laboratory of Genetics in Ophthalmology, Inserm UMR1163, Institut Imagine, Université Paris Descartes Sorbonne Paris Cité, Hôpital Necker</institution>, Paris,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Roux, A F" sort="Roux, A F" uniqKey="Roux A" first="A-F" last="Roux">A-F Roux</name><affiliation wicri:level="1"><nlm:aff id="aff9"><institution>Laboratory of Molecular Genetic, CHU Arnaud de Villeneuve</institution>, Montpellier,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Van Camp, G" sort="Van Camp, G" uniqKey="Van Camp G" first="G" last="Van Camp">G. Van Camp</name><affiliation wicri:level="1"><nlm:aff id="aff10"><institution>Center of Medical Genetics, Department of Biomedical Sciences, University of Antwerp</institution>, Antwerp,<country>Belgium</country></nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Wissinger, B" sort="Wissinger, B" uniqKey="Wissinger B" first="B" last="Wissinger">B. Wissinger</name><affiliation wicri:level="1"><nlm:aff id="aff11"><institution>Molecular Genetics Laboratory, Institute for Ophthalmic Research</institution>, Tuebingen,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Boespflug Tanguy, O" sort="Boespflug Tanguy, O" uniqKey="Boespflug Tanguy O" first="O" last="Boespflug-Tanguy">O. Boespflug-Tanguy</name><affiliation wicri:level="1"><nlm:aff id="aff12"><institution>Neurobiology and Metabolic Diseases, Hospital Robert Debré</institution>, Paris,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Giraudet, F" sort="Giraudet, F" uniqKey="Giraudet F" first="F" last="Giraudet">F. Giraudet</name><affiliation wicri:level="1"><nlm:aff id="aff13"><institution>Laboratory of Neurosensorial Biophysic, UMR INSERM 1107, Faculty of Medicine – Auvergne University</institution>, Clermont Ferrand,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Puel, J L" sort="Puel, J L" uniqKey="Puel J" first="J-L" last="Puel">J-L Puel</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>INSERM U1051, Institute of Neurosciences of Montpellier</institution>, Montpellier,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Biology and Health Sciences, University of Montpellier</institution>, Montpellier,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Lenaers, G" sort="Lenaers, G" uniqKey="Lenaers G" first="G" last="Lenaers">G. Lenaers</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>INSERM U1051, Institute of Neurosciences of Montpellier</institution>, Montpellier,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Biology and Health Sciences, University of Montpellier</institution>, Montpellier,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Hamel, C" sort="Hamel, C" uniqKey="Hamel C" first="C" last="Hamel">C. Hamel</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>INSERM U1051, Institute of Neurosciences of Montpellier</institution>, Montpellier,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Biology and Health Sciences, University of Montpellier</institution>, Montpellier,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff6"><institution>CHRU Montpellier, Centre of Reference for Genetic Sensory Diseases, CHU, Gui de Chauliac Hospital</institution>, Montpellier,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Delprat, B" sort="Delprat, B" uniqKey="Delprat B" first="B" last="Delprat">B. Delprat</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>INSERM U1051, Institute of Neurosciences of Montpellier</institution>, Montpellier,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Biology and Health Sciences, University of Montpellier</institution>, Montpellier,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Delettre, C" sort="Delettre, C" uniqKey="Delettre C" first="C" last="Delettre">C. Delettre</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>INSERM U1051, Institute of Neurosciences of Montpellier</institution>, Montpellier,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Biology and Health Sciences, University of Montpellier</institution>, Montpellier,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author></analytic><series><title level="j">Cell Death Discovery</title><idno type="eISSN">2058-7716</idno><imprint><date when="2016">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>In vertebrates, 14-3-3 proteins form a family of seven highly conserved isoforms with chaperone activity, which bind phosphorylated substrates mostly involved in regulatory and checkpoint pathways. 14-3-3 proteins are the most abundant protein in the brain and are abundantly found in the cerebrospinal fluid in neurodegenerative diseases, suggesting a critical role in neuron physiology and death. Here we show that 14-3-3eta-deficient mice displayed auditory impairment accompanied by cochlear hair cells' degeneration. We show that 14-3-3eta is highly expressed in the outer and inner hair cells, spiral ganglion neurons of cochlea and retinal ganglion cells. Screening of <italic>YWHAH</italic>, the gene encoding the 14-3-3eta isoform, in non-syndromic and syndromic deafness, revealed seven non-synonymous variants never reported before. Among them, two were predicted to be damaging in families with syndromic deafness. <italic>In vitro</italic>, variants of <italic>YWHAH</italic> induce mild mitochondrial fragmentation and severe susceptibility to apoptosis, in agreement with a reduced capacity of mutated 14-3-3eta to bind the pro-apoptotic Bad protein. This study demonstrates that <italic>YWHAH</italic> variants can have a substantial effect on 14-3-3eta function and that 14-3-3eta could be a critical factor in the survival of outer hair cells.</p></div></front><back><div1 type="bibliography"><listBibl><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct></listBibl></div1></back></TEI><affiliations><list><country><li>Allemagne</li><li>Belgique</li><li>France</li><li>Maroc</li><li>Royaume-Uni</li></country></list><tree><country name="France"><noRegion><name sortKey="Buret, L" sort="Buret, L" uniqKey="Buret L" first="L" last="Buret">L. Buret</name></noRegion><name sortKey="Amati Bonneau, P" sort="Amati Bonneau, P" uniqKey="Amati Bonneau P" first="P" last="Amati-Bonneau">P. Amati-Bonneau</name><name sortKey="Angebault, C" sort="Angebault, C" uniqKey="Angebault C" first="C" last="Angebault">C. Angebault</name><name sortKey="Angebault, C" sort="Angebault, C" uniqKey="Angebault C" first="C" last="Angebault">C. Angebault</name><name sortKey="Blanchet, C" sort="Blanchet, C" uniqKey="Blanchet C" first="C" last="Blanchet">C. Blanchet</name><name sortKey="Boespflug Tanguy, O" sort="Boespflug Tanguy, O" uniqKey="Boespflug Tanguy O" first="O" last="Boespflug-Tanguy">O. Boespflug-Tanguy</name><name sortKey="Brun, E" sort="Brun, E" uniqKey="Brun E" first="E" last="Brun">E. Brun</name><name sortKey="Brun, E" sort="Brun, E" uniqKey="Brun E" first="E" last="Brun">E. Brun</name><name sortKey="Buret, L" sort="Buret, L" uniqKey="Buret L" first="L" last="Buret">L. Buret</name><name sortKey="Cornille, K" sort="Cornille, K" uniqKey="Cornille K" first="K" last="Cornille">K. Cornille</name><name sortKey="Cornille, K" sort="Cornille, K" uniqKey="Cornille K" first="K" last="Cornille">K. Cornille</name><name sortKey="Delettre, C" sort="Delettre, C" uniqKey="Delettre C" first="C" last="Delettre">C. Delettre</name><name sortKey="Delettre, C" sort="Delettre, C" uniqKey="Delettre C" first="C" last="Delettre">C. Delettre</name><name sortKey="Delprat, B" sort="Delprat, B" uniqKey="Delprat B" first="B" last="Delprat">B. Delprat</name><name sortKey="Delprat, B" sort="Delprat, B" uniqKey="Delprat B" first="B" last="Delprat">B. Delprat</name><name sortKey="Do Cruzeiro, M" sort="Do Cruzeiro, M" uniqKey="Do Cruzeiro M" first="M" last="Do-Cruzeiro">M. Do-Cruzeiro</name><name sortKey="Giraudet, F" sort="Giraudet, F" uniqKey="Giraudet F" first="F" last="Giraudet">F. Giraudet</name><name sortKey="Gueguen, N" sort="Gueguen, N" uniqKey="Gueguen N" first="N" last="Gueguen">N. Gueguen</name><name sortKey="Hamel, C" sort="Hamel, C" uniqKey="Hamel C" first="C" last="Hamel">C. Hamel</name><name sortKey="Hamel, C" sort="Hamel, C" uniqKey="Hamel C" first="C" last="Hamel">C. Hamel</name><name sortKey="Hamel, C" sort="Hamel, C" uniqKey="Hamel C" first="C" last="Hamel">C. Hamel</name><name sortKey="Kaplan, J" sort="Kaplan, J" uniqKey="Kaplan J" first="J" last="Kaplan">J. Kaplan</name><name sortKey="Lenaers, G" sort="Lenaers, G" uniqKey="Lenaers G" first="G" last="Lenaers">G. Lenaers</name><name sortKey="Lenaers, G" sort="Lenaers, G" uniqKey="Lenaers G" first="G" last="Lenaers">G. Lenaers</name><name sortKey="Lenoir, M" sort="Lenoir, M" uniqKey="Lenoir M" first="M" last="Lenoir">M. Lenoir</name><name sortKey="Lenoir, M" sort="Lenoir, M" uniqKey="Lenoir M" first="M" last="Lenoir">M. Lenoir</name><name sortKey="Pequignot, M" sort="Pequignot, M" uniqKey="Pequignot M" first="M" last="Pequignot">M. Pequignot</name><name sortKey="Pequignot, M" sort="Pequignot, M" uniqKey="Pequignot M" first="M" last="Pequignot">M. Pequignot</name><name sortKey="Puel, J L" sort="Puel, J L" uniqKey="Puel J" first="J-L" last="Puel">J-L Puel</name><name sortKey="Puel, J L" sort="Puel, J L" uniqKey="Puel J" first="J-L" last="Puel">J-L Puel</name><name sortKey="Rebillard, G" sort="Rebillard, G" uniqKey="Rebillard G" first="G" last="Rebillard">G. Rebillard</name><name sortKey="Rebillard, G" sort="Rebillard, G" uniqKey="Rebillard G" first="G" last="Rebillard">G. Rebillard</name><name sortKey="Reynier, P" sort="Reynier, P" uniqKey="Reynier P" first="P" last="Reynier">P. Reynier</name><name sortKey="Roux, A F" sort="Roux, A F" uniqKey="Roux A" first="A-F" last="Roux">A-F Roux</name><name sortKey="Saleur, A" sort="Saleur, A" uniqKey="Saleur A" first="A" last="Saleur">A. Saleur</name><name sortKey="Saleur, A" sort="Saleur, A" uniqKey="Saleur A" first="A" last="Saleur">A. Saleur</name><name sortKey="Tournier, E" sort="Tournier, E" uniqKey="Tournier E" first="E" last="Tournier">E. Tournier</name></country><country name="Maroc"><noRegion><name sortKey="Barakat, A" sort="Barakat, A" uniqKey="Barakat A" first="A" last="Barakat">A. Barakat</name></noRegion></country><country name="Royaume-Uni"><noRegion><name sortKey="Chinnery, P" sort="Chinnery, P" uniqKey="Chinnery P" first="P" last="Chinnery">P. Chinnery</name></noRegion><name sortKey="Yu Wai Man, P" sort="Yu Wai Man, P" uniqKey="Yu Wai Man P" first="P" last="Yu-Wai-Man">P. Yu-Wai-Man</name></country><country name="Belgique"><noRegion><name sortKey="Van Camp, G" sort="Van Camp, G" uniqKey="Van Camp G" first="G" last="Van Camp">G. Van Camp</name></noRegion></country><country name="Allemagne"><noRegion><name sortKey="Wissinger, B" sort="Wissinger, B" uniqKey="Wissinger B" first="B" last="Wissinger">B. 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