Non-coding sequence variants define a novel regulatory element in the first intron of the N-acetylglutamate synthase gene.
Sign Up to like & getrecommendations! Published in 2021 at "Human mutation"
DOI: 10.1002/humu.24281
Abstract: N-acetylglutamate synthase deficiency (NAGSD, MIM #237310) is an autosomal recessive urea cycle disorder caused either by decreased expression of the NAGS gene or defective NAGS enzyme resulting in decreased production of N-acetylglutamate (NAG), an allosteric… read more here.
Keywords: acetylglutamate synthase; non coding; sequence variants; coding sequence ... See more keywords
Gene delivery corrects N-acetylglutamate synthase deficiency and enables insights in the physiological impact of L-arginine activation of N-acetylglutamate synthase
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DOI: 10.1038/s41598-021-82994-8
Abstract: The urea cycle protects the central nervous system from ammonia toxicity by converting ammonia to urea. N-acetylglutamate synthase (NAGS) catalyzes formation of N-acetylglutamate, an essential allosteric activator of carbamylphosphate synthetase 1. Enzymatic activity of mammalian… read more here.
Keywords: nags mice; acetylglutamate synthase; activation; gene ... See more keywords
Late-Onset N-Acetylglutamate Synthase Deficiency: Report of a Paradigmatic Adult Case Presenting with Headaches and Review of the Literature
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DOI: 10.3390/ijms19020345
Abstract: N-acetylglutamate synthase deficiency (NAGSD) is an extremely rare urea cycle disorder (UCD) with few adult cases so far described. Diagnosis of late-onset presentations is difficult and delayed treatment may increase the risk of severe hyperammonemia.… read more here.
Keywords: onset; late onset; acetylglutamate synthase; synthase deficiency ... See more keywords