Physiological and pathophysiological characteristics of ataxin-3 isoforms
Daniel Weishäupl(Bernstein Center for Computational Neuroscience Tübingen), Juliane Schneider(Bernstein Center for Computational Neuroscience Tübingen), Barbara Peixoto Pinheiro(Bernstein Center for Computational Neuroscience Tübingen), Corinna Ruess(Bernstein Center for Computational Neuroscience Tübingen), Sandra Maria Dold(Bernstein Center for Computational Neuroscience Tübingen), Felix von Zweydorf(German Center for Neurodegenerative Diseases), Christian Johannes Gloeckner(German Center for Neurodegenerative Diseases), Jana Schmidt(Bernstein Center for Computational Neuroscience Tübingen), Olaf Rieß(Bernstein Center for Computational Neuroscience Tübingen), Thorsten Schmidt(Bernstein Center for Computational Neuroscience Tübingen)
Cited by 60Open Access
Abstract
allelic variants modify the physiological and pathophysiological properties of ataxin-3. Our findings indicate that alternative splicing and interactions between different ataxin-3 isoforms affect not only major aspects of ataxin-3 function but also MJD pathogenesis. Our results stress the importance of considering isoforms of disease-causing proteins and their interplay with the normal allelic variant as disease modifiers in MJD and autosomal-dominantly inherited diseases in general.
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