
NCBI . NLM . NIH . GOV {
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Title[redir]:
A requirement for Gch1 and tetrahydrobiopterin in embryonic development - PMC
Description:
GTP cyclohydrolase I (GTPCH) catalyses the first and rate-limiting reaction in the synthesis of the enzymatic cofactor, tetrahydrobiopterin (BH4). Loss of function mutations in the GCH1 gene lead to congenital neurological diseases such as ...
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Keywords {🔍}
gch, embryos, doi, embryonic, levels, mice, deficiency, embryo, gtpch, fig, observed, pubmed, google, scholar, lethality, heart, ldopa, significant, development, supplementation, maternal, sepiapterin, metabolic, due, significantly, data, compared, group, analysis, supplementary, mouse, deletion, pmc, treatment, tetrahydrobiopterin, activity, rescued, rate, difference, littermates, synthesis, genetic, indicating, expression, gross, article, dams, loss, gene, mrna,
Topics {✒️}
quantitative real-time rt–pcr ag/agcl reference electrode pmc beta search 6-pyruvoyl-tetrahydropterin synthase deficiency tet-regulated gtp cyclohydrolase 10µl i2/ki solution van der heijden newman–keuls post-test crossed gch1fl/fl mice hand1-mediated vascular development subsequent lc-ms analysis rat anti-mouse pecam reaching super-physiological levels key bh4-requiring cells nitric oxide synthases gch1 fl/fl mice 6-pyruvoyl-tetrahydropterin synthase mobile phase comprising unbiased metabolomic screen tetrahydrobiopterin-deficient hph-1 mouse flp-mediated excision embryonic l-dopa levels additional loxp site drinking water 1 mg/ml lc-ms platform dopamine β-hydroxylase embryonic bh4 similar frt-pgk-promoter ace c-18 column autosomal recessive mutations lyso-alkylglycerol phospholidids enos ko mouse congenital neurological diseases systemic pharmacologic inhibitors standard pcr techniques develop muscle hypotonia β-adrenergic receptor supporting information appendix gtpch active site l-dopa treated dams supplementary materials included license information pmcid gch1fl/fl mice untargeted metabolomics screen united states government mount pecam staining heterozygous autosomal dominant gittenberger-de groot free rad l-dopa appeared
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