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Identification of protein quality control regulators using a Drosophila model of TPI deficiency.
Hrizo SL, Eicher SL, Myers TD, McGrath I, Wodrich APK, Venkatesh H, Manjooran D, Swoger S, Gagnon K, Bruskin M, Lebedev MV, Zheng S, Vitantonio A, Kim S, Lamb ZJ, Vogt A, Ruzhnikov MRZ, Palladino MJ. Hrizo SL, et al. Among authors: eicher sl. Neurobiol Dis. 2021 May;152:105299. doi: 10.1016/j.nbd.2021.105299. Epub 2021 Feb 15. Neurobiol Dis. 2021. PMID: 33600953 Free PMC article.
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: eicher s. 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.