Co-expression of phenylalanine hydroxylase variants and effects of interallelic complementation on in vitro enzyme activity and genotype-phenotype correlation
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- 作者：Nan Shena ; Caroline Heintzb ; Christian Thiela ; Jü ; rgen G. Okuna ; Georg F. Hoffmanna ; Nenad Blaua ; nenad.blau@med.uni-heidelberg.de" class="auth_mail" title="E-mail the corresponding author
- 关键词：Tetrahydrobiopterin ; Phenylketonuria ; PKU ; Hyperphenylalaninemia
- 刊名：Molecular Genetics and Metabolism
- 出版年：2016
- 出版时间：March 2016
- 年：2016
- 卷：117
- 期：3
- 页码：328-335
- 全文大小：472 K
文摘
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We developed a dual eukaryotic vector system to investigate the co-expression of PAH alleles COS-7 cells.
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The co-expression of two distinct PAH alleles revealed possible dominance (positive or negative).
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Genotypes were compared with the PAH activity, phenotypes and BH4 responsiveness from more than 10,000 PKU patients.