Article
Triosephosphate isomerase I170V alters catalytic site, enhances stability and induces pathology in a Drosophila model of TPI deficiency.
Biochimica et biophysica acta - 1 Jan 2015
Roland Bartholomew P, Amrich Christopher G, Kammerer Charles J, Stuchul Kimberly A, Larsen Samantha B, Rode Sascha, Aslam Anoshé A, Heroux Annie, Wetzel Ronald, VanDemark Andrew P, Palladino Michael J
Abstract excerpt
Triosephosphate isomerase (TPI) is a glycolytic enzyme which homodimerizes for full catalytic activity. Mutations of the TPI gene elicit a disease known as TPI Deficiency, a glycolytic enzymopathy noted for its unique severity of neurological symptoms. Evidence suggests that TPI Deficiency pathogenesis may be due to conformational changes of the protein, likely affecting dimerization and protein stability. In...
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