Reviews
Orosz F et al. Triosephosphate isomerase deficiency: new insights into an enigmatic disease. Biochim Biophys Acta. 2009;1792(12): 1168-74. PMID: 19786097.
Orosz F et al. Triosephosphate isomerase deficiency: facts and doubts. IUBMB Life. 2006;58(12): 703-15. PMID: 17424909.
Schneider AS. Triosephosphate isomerase deficiency: historical perspectives and molecular aspects. Baillieres Best Pract Res Clin Haematol. 2000;13(1): 119-40. PMID: 10916682.
Ationu A, Humphries A. The feasibility of replacement therapy for inherited disorder of glycolysis: triosephosphate isomerase deficiency (review). Int J Mol Med. 1998;2(6): 701-4. PMID: 9850739.
Selected case studies:
Julien M et al. Hereditary triosephosphate isomerase (TPI) deficiency: two severely affected brothers one with and one without neurological symptoms. Ann Biol Clin (Paris) 2023; 81(2). doi: 10.1684/abc.2023.1789. PMID: 36866814.
VanDemark AP et al. Itavastatin and resveratrol increase triosephosphate isomerase protein in a newly identified variant of TPI deficiency. Dis Model Mech. 2022; 15(5): dmm049261. PMID: 35315486.
Harris C et al. Child Neurology: Triosephosphate isomerase deficiency. Neurology 2020; 95: e3448-e3451. PMID: 32873690.
Aissa K et al. Hemolytic Anemia and Progressive Neurologic Impairment: Think About Triosephosphate Isomerase Deficiency. Fetal Pediatr Pathol. 2014; 33(4):234-8. PMID: 24840153.
Valentin C et al. Triose phosphate isomerase deficiency in 3 French families: two novel null alleles, a frameshift mutation (TPI Alfortville) and an alteration in the initiation codon (TPI Paris). Blood. 2000;96:1130–5. PMID: 10910933.
Hollán S et al. Hereditary triosephosphate isomerase (TPI) deficiency: two severely affected brothers one with and one without neurological symptoms. Hum Genet. 1993; 92(5):486-90. PMID: 8244340.
Selected model studies:
Myers TD et al. Murine model of triosephosphate isomerase deficiency with anemia and severe neuromuscular dysfunction. Curr Res Neurobiol. 2022; 3:100062. PMID: 36405628.
Hrizo SL et al. Identification of protein quality control regulators using a Drosophila model of TPI deficiency. Neurobiol Dis. 2021; 152:105299. PMID: 33600953.
Segal J et al. Low catalytic activity is insufficient to induce disease pathology in triosephosphate isomerase deficiency. J Inherit Metab Dis. 2019; 42(5):839-49. PMID: 31111503.
Oliver C and Timson DJ. In silico prediction of the effects of mutations in the human triose phosphate isomerase gene: Towards a predictive framework for TPI deficiency. Eur J Med Gen 2017; 60:289-98.
Aguirre Y et al. Different contribution of conserved amino acids to the global properties of triosephosphate isomerases. Proteins 2014;82(2):323-35. PMID: 23966267.