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PKU AND OTHER DISEASES CAUSED BY DEFECTS IN BIOPTERIN-DEPENDENT ENZYMES

PKU AND OTHER DISEASES CAUSED BY DEFECTS IN BIOPTERIN-DEPENDENT ENZYMES
PKU 和其他由生物蝶呤依赖性酶缺陷引起的疾病
批准号：
2347195
负责人：
SEYMOUR KAUFMAN
金额：
$0.0万
依托单位：
NATIONAL INSTITUTE OF MENTAL HEALTH
依托单位国家：
美国
项目类别：
财政年份：
--
资助国家：
美国
项目状态：
未结题
起止时间：
至
来源：
https://reporter.nih.gov/project-details/2347195
关键词：
active sites aminoacid metabolism carbon oxygen lyase cofactor enzyme activity enzyme deficiency enzyme mechanism enzyme structure genetic regulation genetic transcription hydro lyase hydroxylation hyperphenylalaninemia phenylalanine phenylalanine 4 monooxygenase phenylketonurias protein structure function pteridine analog pteridines site directed mutagenesis tetrahydrobiopterin transcription factor

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相关文献

中文摘要
翻译
双功能蛋白4a-甲醇胺脱水酶/二聚化
英文摘要
The bi-functional protein 4a-carbinolamine dehydratase/dimerization cofactor of HNF-1 (DCoH) is involved in the regeneration of tetrahydrobiopterin, the cofactor of phenylalanine hydroxylase, and in the regulation of the transcription factor HNF-1. A mild form of hyperphenylalaninemia has been demonstrated to be caused by a defect in the enzymatic function and a decrease in proteolytic stability of DCoH. We have used site-directed mutagenesis to characterize the enzyme's catalytic core and to localize the site responsible for transcriptional coactivation.
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会议论文
THE CONVERSION OF PHENYLALANINE TO TYROSINE
PKU AND OTHER DISEASES CAUSED BY DEFECTS IN BIOPTERIN DEPENDENT ENZYMES
Synthesis and Release of Biogenic Amines
SYNTHESIS AND RELEASE OF BIOGENIC AMINES