Hair cell synaptic dysfunction, auditory fatigue and thermal sensitivity in otoferlin Ile515Thr mutants

The multi‐C(2) domain protein otoferlin is required for hearing and mutated in human deafness. Some OTOF mutations cause a mild elevation of auditory thresholds but strong impairment of speech perception. At elevated body temperature, hearing is lost. Mice homozygous for one of these mutations, Otof...

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Publicat a:EMBO J
Autors principals: Strenzke, Nicola, Chakrabarti, Rituparna, Al‐Moyed, Hanan, Müller, Alexandra, Hoch, Gerhard, Pangrsic, Tina, Yamanbaeva, Gulnara, Lenz, Christof, Pan, Kuan‐Ting, Auge, Elisabeth, Geiss‐Friedlander, Ruth, Urlaub, Henning, Brose, Nils, Wichmann, Carolin, Reisinger, Ellen
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2016
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Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5283603/
https://ncbi.nlm.nih.gov/pubmed/27729456
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.15252/embj.201694564
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