Missense variant in TPI1 (Arg189Gln) causes neurologic deficits through structural changes in the triosephosphate isomerase catalytic site and reduced enzyme levels in vivo

Bartholomew P. Roland, Kristen R. Richards, Stacy L. Hrizo, Samantha Eicher, Zackery J. Barile, Tien-Chien Chang, G. Savon, P. Bianchi, E. Fermo, Bianca Maria Ricerca, Luca Tortorolo, J. Vockley, Andrew P. Vandemark, Michael J. Palladino

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Biochemistry, Genetics and Molecular Biology