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• W2145284893 abstract "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 this report, we genetically and physically characterize a human disease-associated TPI mutation caused by an I170V substitution. Human TPI(I170V) elicits behavioral abnormalities in Drosophila. An examination of hTPI(I170V) enzyme kinetics revealed this substitution reduced catalytic turnover, while assessments of thermal stability demonstrated an increase in enzyme stability. The crystal structure of the homodimeric I170V mutant reveals changes in the geometry of critical residues within the catalytic pocket. Collectively these data reveal new observations of the structural and kinetic determinants of TPI Deficiency pathology, providing new insights into disease pathogenesis." @default.
• W2145284893 created "2016-06-24" @default.
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• W2145284893 date "2015-01-01" @default.
• W2145284893 modified "2023-10-14" @default.
• W2145284893 title "Triosephosphate isomerase I170V alters catalytic site, enhances stability and induces pathology in a Drosophila model of TPI deficiency" @default.
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• W2145284893 cites W1971106330 @default.
• W2145284893 cites W1977222497 @default.
• W2145284893 cites W1981574164 @default.
• W2145284893 cites W1982505482 @default.
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• W2145284893 cites W1988521044 @default.
• W2145284893 cites W1989052605 @default.
• W2145284893 cites W1989214991 @default.
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• W2145284893 cites W2002729446 @default.
• W2145284893 cites W2006299355 @default.
• W2145284893 cites W2009610308 @default.
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• W2145284893 doi "https://doi.org/10.1016/j.bbadis.2014.10.010" @default.
• W2145284893 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4268122" @default.
• W2145284893 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/25463631" @default.
• W2145284893 hasPublicationYear "2015" @default.
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