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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. 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.
Decoding P4-ATPase substrate interactions.
Roland BP, Graham TR. Roland BP, et al. Crit Rev Biochem Mol Biol. 2016 Nov/Dec;51(6):513-527. doi: 10.1080/10409238.2016.1237934. Epub 2016 Oct 4. Crit Rev Biochem Mol Biol. 2016. PMID: 27696908 Free PMC article. Review.
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