flavin-adenine-dinucleotide has been researched along with dihydrouracil* in 1 studies
1 other study(ies) available for flavin-adenine-dinucleotide and dihydrouracil
Article | Year |
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A mild phenotype of dihydropyrimidine dehydrogenase deficiency and developmental retardation associated with a missense mutation affecting cofactor binding.
Evaluation of a non-synonymous mutation associated with dihydropyrimidine dehydrogenase (DPD) deficiency.. DPD enzyme analysis, mutation analysis and molecular dynamics simulations based on the 3D-model of DPD.. 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 developmental retardation.. Like other DPD variants attenuating FAD binding, Lys63Glu should be included in screening for DPD deficiency. Topics: Amino Acid Sequence; Child; Creatinine; Dihydropyrimidine Dehydrogenase Deficiency; Dihydrouracil Dehydrogenase (NADP); Flavin-Adenine Dinucleotide; Genotype; Humans; Male; Molecular Sequence Data; Mutation, Missense; Protein Binding; Sequence Homology, Amino Acid; Thymine; Uracil | 2011 |