Missense variant in TPI1 (Arg189Gln) causes neurologic deficits through structural changes in the triosephosphate isomerase catalytic site and reduced enzyme levels in vivo
TPI1基因错义变异(Arg189Gln)通过改变磷酸丙糖异构酶催化位点的结构,导致体内酶水平降低,从而引起神经功能缺陷。
期刊:Biochimica et Biophysica Acta-Molecular Basis of Disease
影响因子:4.2
doi:10.1016/j.bbadis.2019.05.002
Roland, Bartholomew P; Richards, Kristen R; Hrizo, Stacy L; Eicher, Samantha; Barile, Zackery J; Chang, Tien-Chien; Savon, Grace; Bianchi, Paola; Fermo, Elisa; Ricerca, Bianca Maria; Tortorolo, Luca; Vockley, Jerry; VanDemark, Andrew P; Palladino, Michael J