ASA is a rare genetic urea cycle disorder characterised by deficiency or lack of the enzyme argininosuccinate
lyase (ASL), which is central to two metabolic pathways: the liver-based urea cycle, which detoxifies ammonia and the citrulline-nitric oxide cycle, which synthesises nitric oxide from L-arginine.
Glutamine stimulates argininosuccinate
synthetase gene expression through O-glycosylation of Sp1 in Caco-2 cells.
Mutations and polymorphisms in the human argininosuccinate
synthetase (ASS1) gene.
Bruno et al., "Extracellular vesicles from human liver stem cells restore argininosuccinate
synthase deficiency," Stem Cell Research & Therapy, vol.
Wildemann, "Inducible nitric oxide synthase and argininosuccinate
synthetase: co-induction in brain tissue of patients with Alzheimer's dementia and following stimulation with [beta]-amyloid 1-42 in vitro," Neuroscience Letters, vol.
Tumor necrosis factor-reduces argininosuccinate
symthase expression and nitric oxide production in aorticendothelial cells.
Carbamoyl phosphate reacts with ornithine to produce citrulline, which is transported out of mitochondria and then reacts with aspartate to form argininosuccinate
is converted by argininosuccinase into fumarate and arginine.
The ASS1 gene provides instructions for making argininosuccinate
synthase 1, which is responsible for the third step of the urea cycle.
Cit is transported out from mitochondrion and bound to aspartate by argininosuccinate
synthase, and aspartate is provided by the mitochondrial transporter citrin.
Eichler, "Tumor necrosis factor-alpha reduces argininosuccinate
synthase expression and nitric oxide production in aortic endothelial cells," The American Journal of Physiology--Heart and Circulatory Physiology, vol.
Neuronal and glial coexpression of argininosuccinate
synthetase and inducible nitric oxide synthase in Alzheimer disease.
Spot 12 contained a mixture of four proteins: argininosuccinate
synthase (nine peptides), elongation factor 1-alpha (two peptides), alanine aminotransferase2 (two peptides), and 26S protease regulatory subunit6B homolog (five peptides, also found in other spots) (Table 1, peptide data not shown).