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All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year Sort by creator [A → Z]' creator [Z → A]' publishing year ↑ (asc)' publishing year ↓ (desc)' title [A → Z]' title [Z → A]' Simple Search Hits 1 – 2 of 2 1 The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management Tranebjærg, Lisbeth; Strenzke, Nicola; Lindholm, Sture... In: ISSN: 0340-6717 ; EISSN: 1432-1203 ; Human Genetics ; https://hal.archives-ouvertes.fr/hal-02349575 ; Human Genetics, Springer Verlag, 2018, 137 (2), pp.111--127. ⟨10.1007/s00439-017-1862-z⟩ (2018) BASE Show details 2 Hair cell synaptic dysfunction, auditory fatigue and thermal sensitivity in otoferlin Ile515Thr mutants 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. - : John Wiley and Sons Inc., 2016 Abstract: The multi‐C2 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 I515T/I515T , exhibit a moderate hearing impairment involving enhanced adaptation to continuous or repetitive sound stimulation. In Otof I515T/I515T inner hair cells (IHCs), otoferlin levels are diminished by 65%, and synaptic vesicles are enlarged. Exocytosis during prolonged stimulation is strongly reduced. This indicates that otoferlin is critical for the reformation of properly sized and fusion‐competent synaptic vesicles. Moreover, we found sustained exocytosis and sound encoding to scale with the amount of otoferlin at the plasma membrane. We identified a 20 amino acid motif including an RXR motif, presumably present in human but not in mouse otoferlin, which reduces the plasma membrane abundance of Ile515Thr‐otoferlin. Together, this likely explains the auditory synaptopathy at normal temperature and the temperature‐sensitive deafness in humans carrying the Ile515Thr mutation. Keyword: Articles URL: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5283603/ https://doi.org/10.15252/embj.201694564 http://www.ncbi.nlm.nih.gov/pubmed/27729456 BASE Hide details

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