PKU AND OTHER DISEASES CAUSED BY DEFECTS IN BIOPTERIN DEPENDENT ENZYMES

双功能蛋白的定点突变研究 甲醇胺脱水酶/DCoH，其缺乏是导致 高苯丙氨酸血症，已表明这两种活动均可 有选择地被击倒。 一项新的活动，极大地提高了活跃度 组织培养中的苯丙氨酸羟基酶已被证明 乙醇胺/二水合酶。 利用重组DNA技术，我们已经共同设计了几个 已知可引起苯丙氨酸羟基酶的自然突变 并对苯丙酮尿症进行了初步动力学研究 这些突变体的特征。 表皮角质形成细胞的含量很低，但可以检测到。 甲醇胺脱水酶的水平。

Site-specific mutational studies of the bifunctional protein carbinolamine dehydratase/DCoH, whose deficiency is a cause of hyperphenylalaninemia, have shown that the two activities can be selectively knocked out. A new activity that very significantly increases the levels of active phenylalanine hydroxylase in tissue culture has been demonstrated for carbinolamine/dihydratase. Using recombinant DNA techniques, we have co-engineered several naturally-occuring mutants of phenylalanine hydroxylase known to cause phenylketonuria and have carried out a preliminary kinetic characterization of these mutants. Epidermal keratinocytes have been shown to have low, but detectable levels of carbinolamine dehydratase.