Ornithine

aldehyde dehydrogenase 18 family member A1 ; Homo sapiens







14 Article(s)
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1 35286254 Structural basis of dynamic P5CS filaments. 2022 Mar 14 2
2 32770108 Pyrroline-5-carboxylate synthase senses cellular stress and modulates metabolism by regulating mitochondrial respiration. 2021 Jan 2
3 32798076 Tremor as an early sign of hereditary spastic paraplegia due to mutations in ALDH18A1. 2021 Jan 3
4 33573605 SPG9A with the new occurrence of an ALDH18A1 mutation in a CMT1A family with PMP22 duplication: case report. 2021 Feb 11 1
5 26829900 ALDH18A1-related cutis laxa syndrome with cyclic vomiting. 2016 Aug 2
6 26026163 Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. 2015 Aug 4
7 22170564 Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine. 2012 Sep 3
8 18401542 Human Delta1-pyrroline-5-carboxylate synthase: function and regulation. 2008 Nov 3
9 18478038 A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome. 2008 Oct 1
10 15517380 Delta1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline. 2005 Jan 3
11 11092761 Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase. 2000 Nov 22 3
12 10037775 Molecular enzymology of mammalian Delta1-pyrroline-5-carboxylate synthase. Alternative splice donor utilization generates isoforms with different sensitivity to ornithine inhibition. 1999 Mar 5 4
13 8761662 Database cloning human delta 1-pyrroline-5-carboxylate synthetase (P5CS) cDNA: a bifunctional enzyme catalyzing the first 2 steps in proline biosynthesis. 1996 Mar 1
14 6115302 Regulation of proline biosynthesis: the inhibition of pyrroline-5-carboxylate synthase activity by ornithine. 1981 Sep 1