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Structure and expression of human dihydropteridine reductase.

作者信息

Lockyer J, Cook R G, Milstien S, Kaufman S, Woo S L, Ledley F D

出版信息

Proc Natl Acad Sci U S A. 1987 May;84(10):3329-33. doi: 10.1073/pnas.84.10.3329.

DOI:10.1073/pnas.84.10.3329
PMID:3033643
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC304863/
Abstract

Dihydropteridine reductase (DHPR; EC 1.6.99.7) catalyzes the NADH-mediated reduction of quinonoid dihydrobiopterin and is an essential component of the pterin-dependent aromatic amino acid hydroxylating systems. A cDNA for human DHPR was isolated from a human liver cDNA library in the vector lambda gt11 using a monospecific antibody against sheep DHPR. The nucleic acid sequence and amino acid sequence of human DHPR were determined from a full-length clone. A 112 amino acid sequence of sheep DHPR was obtained by sequencing purified sheep DHPR. This sequence is highly homologous to the predicted amino acid sequence of the human protein. Gene transfer of the recombinant human DHPR into COS cells leads to expression of DHPR enzymatic activity. These results indicate that the cDNA clone identified by antibody screening is an authentic and full-length cDNA for human DHPR.

摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/493e/304863/05689f6300e2/pnas00275-0258-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/493e/304863/05689f6300e2/pnas00275-0258-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/493e/304863/05689f6300e2/pnas00275-0258-a.jpg

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Proc Natl Acad Sci U S A. 1963 Dec;50(6):1085-93. doi: 10.1073/pnas.50.6.1085.
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The enzymatic conversion of phenylalanine to tyrosine.苯丙氨酸向酪氨酸的酶促转化。
多巴胺代谢产物引起的蛋白损伤在帕金森病中的作用：证据、工具和展望。
Chem Res Toxicol. 2022 Oct 17;35(10):1789-1804. doi: 10.1021/acs.chemrestox.2c00193. Epub 2022 Aug 22.
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QDPR gene mutation and clinical follow-up in Chinese patients with dihydropteridine reductase deficiency.中国二氢蝶啶还原酶缺乏症患者的QDPR基因突变与临床随访
World J Pediatr. 2014 Aug;10(3):219-26. doi: 10.1007/s12519-014-0496-7. Epub 2014 Aug 15.
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Serum prolactin as a tool for the follow-up of treated DHPR-deficient patients.将血清催乳素作为治疗 DHPR 缺陷患者随访的工具。
J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S193-7. doi: 10.1007/s10545-007-0788-3. Epub 2008 Apr 15.
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Molecular analysis of 16 Turkish families with DHPR deficiency using denaturing gradient gel electrophoresis (DGGE).利用变性梯度凝胶电泳（DGGE）对16个患有二氢吡啶受体（DHPR）缺乏症的土耳其家庭进行分子分析。
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Hyperphenylalaninemia due to defects in tetrahydrobiopterin metabolism: molecular characterization of mutations in 6-pyruvoyl-tetrahydropterin synthase.由于四氢生物蝶呤代谢缺陷导致的高苯丙氨酸血症：6-丙酮酸四氢蝶呤合酶突变的分子特征
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