Identification of protein quality control regulators using a Drosophila model of TPI deficiency.

ABSTRACT: Triosephosphate isomerase (TPI) deficiency (Df) is a rare recessive metabolic disorder that manifests as hemolytic anemia, locomotor impairment, and progressive neurodegeneration. Research suggests that TPI Df mutations, including the "common" TPI^E105Dmutation, result in reduced TPI protein stability that appears to underlie disease pathogenesis. Drosophila with the recessive TPI^sugarkill allele (a.k.a. sgk or M81T) exhibit progressive locomotor impairment, neuromuscular impairment and reduced longevity, modeling the human disorder. TPI^sugarkill produces a functional protein that is degraded by the proteasome. Molecular chaperones, such as Hsp70 and Hsp90, have been shown to contribute to the regulation of TPI^sugarkill degradation. In addition, s

SUBMITTER: Hrizo SL 

PROVIDER: S-EPMC7993632 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature