Triosephosphate isomerase deficiency

Schneider, A.,Westwood, B., Yim, C Prchal, J., Berkow, R Labotka, R., Warner, R., and Beut-ler, E Triosephosphate isomerase deficiency Occurrence of point mutation in amino acid 104 in multiple apparently unrelated families. Am. J. Hematol. 50,263-268 (1995). 

Celotto, A. M., Frank, A. C., Seigle, J. L., and Palladino, M. J. (2006). Drosophila model of human inherited triosephosphate isomerase deficiency glycolytic enzymopathy. Genetics 174,1237-1246. 

Triosephosphate Isomerase Deficiency, a Unique Glycolytic Enzymopathy... 

Horanyi, M., Harsanyi, V., Farkas, T. Search for the pathogenesis of the differing phenotype in two compound heterozygote Hungarian brothers with the same genotypic triosephosphate isomerase deficiency. Proc. Natl. Acad. Sci. USA 1997, 94 10362-10366. 

Schneider, A. S. Triosephosphate isomerase deficiency historical perspectives and molecular aspects. Bailliere s Clin. Haematol. 2000,13 119-140. 

S., Ovadi, J. Triosephosphate isomerase deficiency consequences of an inherited mutation at mRNA, protein and metabolic levels. Biochem. J. 2005, 392 675-683. 

Ahmed, N., Battah, S., Karachalias, N., Babaei-Jadidi, R., Horanyi, M., Baroti, K., Hollan, S., Thomalley, P. J. Increased formation of methylglyoxal and protein glycation, oxidation and nitrosation in triosephosphate isomerase deficiency. Biochim. Biophys. Acta 2003,1639 121 132. 

Repiso A, Boren J, Ortega F, Pujades A, CenteHes J, Vives-Corrons JL, et al. Triosephosphate isomerase deficiency, genetic, enzymatic and metabolic chai ac-terization of a new case from Spain. Haematologica 2002 87 ECR12. 

K., Karro, H., Miwa, S., Harsanyi, V., Gyodi, E., Inselt-Kovacs, M. Hereditary triosephosphate isomerase (TPI) deficiency two severaly affected brothers one with and one without neurological symptoms. Hum. Genet. 1993, 92 486 490. 

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