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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Veröffentlicht in:EMBO J
Hauptverfasser: 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
Sprache:Inglês
Veröffentlicht: John Wiley and Sons Inc. 2016
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Online Zugang: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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