Associated Papers
Newly Identified TPI Deficiency Treatments Function for Novel Disease-Causing Allele, TPI1R5G.
Figura JR et al.
Genes, 2025
Itavastatin and resveratrol increase triosephosphate isomerase protein in a newly identified variant of TPI deficiency.
VanDemark AP et al.
Disease Models & Mechanisms, 2022
Murine model of triosephosphate isomerase deficiency with anemia and severe neuromuscular dysfunction.
Myers TD et al.
Current Research in Neurobiology, 2022
Identification of protein quality control regulators using a Drosophila model of TPI deficiency.
Hrizo SL et al.
Neurobiology of Disease, 2021
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 et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2019
Select a paper to view details