JIMD Reports, Volume 66, Issue 1, January 2025.ABSTRACT Background Tetrahydrobiopterin (BH4) deficiencies comprise a group of five neurometabolic disorders caused by five genetic defects responsible for BH4 biosynthesis and regeneration. Their global prevalence remains unknown, and variance exists among different countries.
Omar Jarrah +2 more
openalex +2 more sources
Guide RNA structure design enables combinatorial CRISPRa programs for biosynthetic profiling. [PDF]
Nat CommunEngineering metabolism to efficiently produce chemicals from multi-step pathways requires optimizing multi-gene expression programs to achieve enzyme balance.
Fontana J +10 more
europepmc +3 more sources
Effects of phototherapy on biopterin, neopterin, tryptophan, and behavioral neuroinflammatory reaction in patients with post-stroke depression. [PDF]
Sci RepLiu L, Wu Z, Lu Y, Lu W, Su G, Zhou Z.
europepmc +3 more sources
Studies on the regulation of endothelial nitric oxide synthase in endothelial dysfunction [PDF]
, 2016 Ischaemic heart disease and cerebrovascular disease are the leading causes of morbidity and mortality in the world. The underlying progression of the disease is linked to a reduction in the bioavailability of nitric oxide. One factor contributing to this
Cerrato, Ruha
core +1 more source
Insulin Reverses D-Glucose–Increased Nitric Oxide and Reactive Oxygen Species Generation in Human Umbilical Vein Endothelial Cells [PDF]
, 2015 Vascular tone is controlled by the L-arginine/nitric oxide (NO) pathway, and NO bioavailability is strongly affected by hyperglycaemia-induced oxidative stress.
Aguayo, Claudio +7 more
core +1 more source
Mapping an atlas of tissue-specific drosophila melanogaster metabolomes by high resolution mass spectrometry [PDF]
, 2013 Metabolomics can provide exciting insights into organismal function, but most work on simple models has focussed on the whole organism metabolome, so missing the contributions of individual tissues.
A Kamleh +47 more
core +3 more sources
First Synthesis of Asperopterin A, an Isoxanthopterin Glycoside from Aspergillus Oryzae [PDF]
, 2013 The key precursor, N-2-(N,N -dimethylaminomethylene)-6-hydroxymethyl-8-methyl-3-[2-(4-nitrophenyl)ethyl]-7-xanthopterin (16) was efficiently prepared from 2,5-diamino-6-methylamino-3H-pyrimidin-4-one (5) and ethyl 3-(tert-butyldimethylsilyloxy)-2 ...
Hanaya, Tadashi, Yamamoto, Hiroshi
core +1 more source
Pteridines, 1991 Administration of 2,4-diamino-6-hydroxypyrimidine (DAHP) in the diet of rats reduced total biopterins in plasma, brain and liver. The levels of dihydropteridine reductase (DHPR) and the rate of biopterin biosynthesis were unaffected.
Cox J., Armstrong R. A., Blair J. A.
doaj +1 more source
Biopterin responsive phenylalanine hydroxylase deficiency [PDF]
Genetics in Medicine, 2004 Phenylketonuria (PKU) is an autosomal recessive disorder caused by mutations in the phenylalanine hydroxylase (PAH) gene. There have been more than 400 mutations identified in the PAH gene leading to variable degrees of deficiency in PAH activity, and consequently a wide spectrum of clinical severity.
Reuben, Matalon +11 more
openaire +2 more sources