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Triose Phosphate Isomerase Deficiency Is Caused by Altered Dimerization–Not Catalytic Inactivity–of the Mutant Enzymes
Triosephosphate isomerase (TPI) deficiency is an autosomal recessive disorder caused by various mutations in the gene encoding the key glycolytic enzyme TPI. A drastic decrease in TPI activity and an increased level of its substrate, dihydroxyacetone phosphate, have been measured in unpurified cell...
Autores principales: | Ralser, Markus, Heeren, Gino, Breitenbach, Michael, Lehrach, Hans, Krobitsch, Sylvia |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2006
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1762313/ https://www.ncbi.nlm.nih.gov/pubmed/17183658 http://dx.doi.org/10.1371/journal.pone.0000030 |
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