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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)
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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.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5283603/
https://doi.org/10.15252/embj.201694564
http://www.ncbi.nlm.nih.gov/pubmed/27729456
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