Article
Characterization of the ternary Usher syndrome SANS/ush2a/whirlin protein complex.
Human molecular genetics - 15 Mar 2017
Sorusch Nasrin, Bauß Katharina, Plutniok Janet, Samanta Ananya, Knapp Barbara, Nagel-Wolfrum Kerstin, Wolfrum Uwe
Abstract excerpt
The Usher syndrome (USH) is the most common form of inherited deaf-blindness, accompanied by vestibular dysfunction. Due to the heterogeneous manifestation of the clinical symptoms, three USH types (USH1-3) and additional atypical forms are distinguished. USH1 and USH2 proteins have been shown to function together in multiprotein networks in photoreceptor cells and hair cells. Mutations in USH proteins are...
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