Gene mutation and pedigree analysis of tetrahydrobiopterin deficiency in a Uygur family of China
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Clinical Laboratory Analysis"
DOI: 10.1002/jcla.22665
Abstract: Tetrahydrobiopterin (BH4) deficiency is an autosomal recessive disorder, which is caused by an enzyme deficiency involved in its synthetic or metabolic pathways. Clinical symptoms may include microcephaly, hypoevolutism, severe ataxia, and seizures. The purposes of… read more here.
Keywords: mutation pedigree; analysis; gene mutation; deficiency ... See more keywords
Combining Precursor-Directed Engineering with Modular Designing: An Effective Strategy for De Novo Biosynthesis of l-DOPA in Bacillus licheniformis.
Sign Up to like & getrecommendations! Published in 2022 at "ACS synthetic biology"
DOI: 10.1021/acssynbio.1c00411
Abstract: 3-Hydroxy-l-tyrosine (l-DOPA) is a promising drug for treating Parkinson's disease. Tyrosine hydroxylase catalyzes the microbial synthesis of l-DOPA, which is hindered by the efficiency of catalysis, the supply of cofactor tetrahydrobiopterin, and the regulation of… read more here.
Keywords: tetrahydrobiopterin; strategy; dopa; engineering ... See more keywords
A key role for tetrahydrobiopterin‐dependent endothelial NOS regulation in resistance arteries: studies in endothelial cell tetrahydrobiopterin‐deficient mice
Sign Up to like & getrecommendations! Published in 2017 at "British Journal of Pharmacology"
DOI: 10.1111/bph.13728
Abstract: The cofactor tetrahydrobiopterin (BH4) is a critical regulator of endothelial NOS (eNOS) function, eNOS‐derived NO and ROS signalling in vascular physiology. To determine the physiological requirement for de novo endothelial cell BH4 synthesis for the… read more here.
Keywords: endothelial cell; tetrahydrobiopterin; resistance arteries; endothelial nos ... See more keywords
Guide for diagnosis and treatment of hyperphenylalaninemia
Sign Up to like & getrecommendations! Published in 2021 at "Pediatrics International"
DOI: 10.1111/ped.14399
Abstract: Sapropterin hydrochloride, a natural coenzyme (6R‐tetrahydrobiopterin) of phenylalanine hydroxylase, was first approved as a treatment for tetrahydrobiopterin deficiency in 1992 in Japan, and was then approved as a treatment for a tetrahydrobiopterin‐responsive hyperphenylalaninemia in 2007… read more here.
Keywords: diagnosis treatment; treatment; treatment hyperphenylalaninemia; guide diagnosis ... See more keywords
Exploring the Mystery of the Tetrahydrobiopterin Synthetic Defect Lethal Mutant leml from Birth to Death in the Silkworm Bombyx mori
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms232012083
Abstract: Tetrahydrobiopterin (BH4) is a vital coenzyme for several enzymes involved in diverse enzymatic reactions in animals, and BH4 deficiency can lead to metabolic and neurological disorders due to dysfunction in its metabolism. In the silkworm… read more here.
Keywords: tetrahydrobiopterin; bh4 deficiency; death; mutant leml ... See more keywords