NAF Ataxia Research Studies Currently Underway
Ilya Bezprozvanny, PhD
University of Texas Southwestern Medical Center in Dallas Deranged calcium signaling in SCA 3 neurons
Summary: Spinocerebellar ataxia type 3 (SCA3) a fatal neurodegenerative disorder
SCA3 is caused by mutation in protein ataxin-3. We discovered that mutated ataxin-3 binds to and activates the type 1 inositol (1, 4, 5) trisphosphate receptor (InsP3Rl) neuronal intracellular calcium (Ca2+) release channel. In this grant I propose experiments with SCA3 mouse model aimed to determine the importance of InsP3R 1 association with mutanted ataxin-3 for SCA3 pathology.
