Results 71 to 80 of about 475,319 (124)
An easily missed diagnosis: 17-alpha-hydroxylase/17,20-lyase deficiency [PDF]
, 2015 The CYP17A1 gene encodes the enzyme P450c17, which mediates both 17α-hydroxylase and 17,20-lyase activities and is essential for production of cortisol and sex steroids. Loss-of-function mutations of this gene cause 17α-hydroxylase/17,20-lyase deficiency,
Firdevs Baş +9 more
core
The pathway for urea cycle derived from KEGG pathway analysis.
, 2016 UM_WWY possess a gene encoding for a putative enzyme arginase (EC 3.5.3.1) which hydrolyzes arginine into ornithine and urea. EC 6.3.4.5 = Argininosuccinate synthetase; EC 4.3.2.1 = Argininosuccinate lyase; EC 2.1.3.3 = Ornithine transcarbamoylase.
Tze King Tan (2587147) +3 more
core +1 more source
Neurologic aspects of adenylosuccinate lyase deficiency
, 2001 Adenylosuccinate lyase deficiency is an autosomal-recessive disorder of the purine de novo synthesis pathway, diagnosed up to now in approximately 40 patients. The clinical presentation is characterized by severe neurologic involvement including seizures,
CIARDO, FRANCESCA +2 more
core +1 more source
Arginine is an important amino acid in plants, as it not only plays a structural role and serves as nitrogen storage but is also a precursor for various molecules, including polyamines and proline.
Nielipinski, Maciej +3 more
core +1 more source
, 2020 a r t i c l e s nature medicine advance online publication l-arginine is the natural substrate of NOSs for generating NO. As a by-product of the NOS reaction, l-citrulline is formed from l-arginine.
Terry K Bertin +21 more
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Chronic liver disease and impaired hepatic glycogen metabolism in argininosuccinate lyase deficiency. [PDF]
JCI Insight, 2020 Burrage LC +22 more
europepmc +1 more source
, 2014 CPS1, carbamoyl phosphate synthetase 1; OTC, ornithine carbamoyltransferase; ASS1, argininosuccinate synthetase; ASL, argininosuccinate lyase; ARG1, arginase; GLUL, glutamate–ammonia ligase; ABD, antibody diluent (DAKO); PBS, Phosphate-buffered saline ...
Giora van Straten (580550) +10 more
core +1 more source
Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in - vitro enzyme activity with clinical phenotype in argininosuccinic aciduria [PDF]
, 2018 Background: The urea cycle defect argininosuccinate lyase (ASL) deficiency has a large spectrum of presentations from highly severe to asymptomatic. Enzyme activity assays in red blood cells or fibroblasts, although diagnostic of the deficiency, fail to ...
Engel, Katharina +12 more
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Crystallization and preliminary X-ray analysis of argininosuccinate lyase fromStreptococcus mutans
, 2011 Argininosuccinate lyase (ASL) is an important enzyme in arginine synthesis and the urea cycle, which are highly conserved from bacteria to eukaryotes.
Yan-Li Cao +9 more
core +1 more source
, 2014 CPS1, carbamoyl phosphate synthetase 1; OTC, ornithine carbamoyltransferase; ASS1, argininosuccinate synthetase; ASL, argininosuccinate lyase; ARG1, arginase; NAGS, N-acetylglutamate synthase; GLUL, glutamate–ammonia ligase; GLUD1, glutamate ...
Giora van Straten (580550) +10 more
core +1 more source