Article
A mild phenotype of dihydropyrimidine dehydrogenase deficiency and developmental retardation associated with a missense mutation affecting cofactor binding.
Clinical biochemistry - 1 Jun 2011
Weidensee Sabine, Goettig Peter, Bertone Marko, Haas Dorothea, Magdolen Viktor, Kiechle Marion, Meindl Alfons, van Kuilenburg André B P, Gross Eva
Abstract excerpt
OBJECTIVES: Evaluation of a non-synonymous mutation associated with dihydropyrimidine dehydrogenase (DPD) deficiency. DESIGN AND METHODS: DPD enzyme analysis, mutation analysis and molecular dynamics simulations based on the 3D-model of DPD. RESULTS: The substitution Lys63Glu is likely to affect the FAD binding pocket within the DPD protein and contributes to a near-complete DPD deficiency in a patient with...
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