Molecular studies of the synaptic protein otoferlin

von Alexandra Müller
Dissertation
Datum der mündl. Prüfung:2016-04-08
Erschienen:2017-02-24
Betreuer:Dr. Ellen Reisinger
Gutachter:Prof. Dr. Nils Brose
Gutachter:Prof. Dr. Thomas Dresbach
Gutachter:Prof. Dr. Martin Göpfert
Gutachter:Prof. Dr. Silvio Rizzoli
Gutachter:Dr. Manuela Schmidt
Zum Verlinken/Zitieren: http://dx.doi.org/10.53846/goediss-6128

 

 

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Zusammenfassung

Englisch

Deafness is an interesting and intensely studied topic and can be caused by different, genetic as well as environmental, factors. One important cause of deafness are mutations in the otoferlin gene leading to non-syndromic deafness DFNB9. Interestingly, some mutations lead to temperature induced hearing loss where patients have normal to impaired hearing when their body temperature is normal but become deaf as soon as they become febrile. Different mutations of otoferlin were analyzed using biolystic transfection, mass spectrometry, real-time PCR and fluorescence microscopy were used.
Keywords: Otoferlin; Hearing; Gene Gun; Temperature sensitivity; Real-time PCR; Cloning
 
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