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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...

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Autors principals: Ralser, Markus, Heeren, Gino, Breitenbach, Michael, Lehrach, Hans, Krobitsch, Sylvia
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2006
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1762313/
https://ncbi.nlm.nih.gov/pubmed/17183658
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0000030
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