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Missense variant in TPI1 (Arg189Gln) causes neurologic deficits through structural changes in the triosephosphate isomerase catalytic site and reduced enzyme levels in vivo.
Roland BP, Richards KR, Hrizo SL, Eicher S, Barile ZJ, Chang TC, Savon G, Bianchi P, Fermo E, Ricerca BM, Tortorolo L, Vockley J, VanDemark AP, Palladino MJ. Roland BP, et al. Among authors: barile zj. Biochim Biophys Acta Mol Basis Dis. 2019 Sep 1;1865(9):2257-2266. doi: 10.1016/j.bbadis.2019.05.002. Epub 2019 May 7. Biochim Biophys Acta Mol Basis Dis. 2019. PMID: 31075491 Free PMC article.
Ketogenic and anaplerotic dietary modifications ameliorate seizure activity in Drosophila models of mitochondrial encephalomyopathy and glycolytic enzymopathy.
Fogle KJ, Smith AR, Satterfield SL, Gutierrez AC, Hertzler JI, McCardell CS, Shon JH, Barile ZJ, Novak MO, Palladino MJ. Fogle KJ, et al. Among authors: barile zj. Mol Genet Metab. 2019 Apr;126(4):439-447. doi: 10.1016/j.ymgme.2019.01.008. Epub 2019 Jan 17. Mol Genet Metab. 2019. PMID: 30683556 Free PMC article.