Article
Altered thymidine metabolism due to defects of thymidine phosphorylase.
The Journal of biological chemistry - 8 Feb 2002
Spinazzola Antonella, Marti Ramon, Nishino Ichizo, Andreu Antonio L, Naini Ali, Tadesse Saba, Pela Ivana, Zammarchi Enrico, Donati M Alice, Oliver Juan A, Hirano Michio
Abstract excerpt
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive human disease due to mutations in the thymidine phosphorylase (TP) gene. TP enzyme catalyzes the reversible phosphorolysis of thymidine to thymine and 2-deoxy-D-ribose 1-phosphate. We present evidence that thymidine metabolism is altered in MNGIE. TP activities in buffy coats were reduced drastically in all 27 MNGIE patients...
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