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Doctor of Philosophy, (Biochemistry)
Study Completed: 2009
College of Sciences
The filamin A actin binding domain structure and function: Implications for a gain-of-function mechanism for the otopalatodigital syndrome spectrum disorders
Different inherited mutations in the actin binding domain of filamin A cause a wide range of diseases in humans, reflecting the diversity of the roles that filamin A has in cell structure and signaling pathways. This work investigated the three dimensional structure and the activity of this protein domain. Results from this work have helped understand the mechanism behind the bone and neurological disorders associated with inherited mutations in this protein.
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Last updated on Tuesday 04 April 2017