Beschreibung:
In humans, in whom speech and speech perception is essential for communication and social interaction, deafness is a severe disorder. One of the genetic non-syndromic forms is the autosomal recessive nonsyndromic deafness DFNB 9, which is caused by loss of function mutations in the OTOF gene encoding the protein otoferlin. As otoferlin may serve a dual role in Ca2+-sensing and vesicle replenishment at the IHC ribbon synapse, it is of great interest to establish rescue protocols to (i) obtain a more detailed view on the properties of the protein and its functional domains and (ii) ultimately...