Evidence for founder effect of the glu104asp substitution and identification of new mutations in triosephosphate isomerase deficiency
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference22 articles.
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4. Characterization of the functional gene and several processed pseudogenes in the human triosephosphate isomerase gene family.
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1. Murine model of triosephosphate isomerase deficiency with anemia and severe neuromuscular dysfunction;Current Research in Neurobiology;2022
2. Missense variant in TPI1 (Arg189Gln) causes neurologic deficits through structural changes in the triosephosphate isomerase catalytic site and reduced enzyme levels in vivo;Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease;2019-09
3. Low catalytic activity is insufficient to induce disease pathology in triosephosphate isomerase deficiency;Journal of Inherited Metabolic Disease;2019-06-11
4. Differential effects on enzyme stability and kinetic parameters of mutants related to human triosephosphate isomerase deficiency;Biochimica et Biophysica Acta (BBA) - General Subjects;2018-06
5. Enzyme Architecture: Modeling the Operation of a Hydrophobic Clamp in Catalysis by Triosephosphate Isomerase;Journal of the American Chemical Society;2017-07-19
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