|
| 37146589 | The functional impact of 1,570 individual amino acid substitutions in human OTC. | Am J Hum Genet | 2023 |
| 37847851 | Datamining approaches for examining the low prevalence of N-acetylglutamate synthase deficiency and understanding transcriptional regulation of urea cycle genes. | | 2023 |
| 33574402 | Gene delivery corrects N-acetylglutamate synthase deficiency and enables insights in the physiological impact of L-arginine activation of N-acetylglutamate synthase. | Scientific Reports | 2021 |
| 33551825 | Mitochondrial Enzymes of the Urea Cycle Cluster at the Inner Mitochondrial Membrane. | Frontiers in Physiology | 2020 |
| 32095520 | A mutation-independent CRISPR-Cas9-mediated gene targeting approach to treat a murine model of ornithine transcarbamylase deficiency. | Science advances | 2020 |
| 31341644 | Dysregulated calcium homeostasis prevents plasma membrane repair in Anoctamin 5/TMEM16E-deficient patient muscle cells. | Cell Death Discovery | 2019 |
| 31509535 | Baseline human gut microbiota profile in healthy people and standard reporting template. | PLoS One | 2019 |
| 29282796 | Disease-causing mutations in the promoter and enhancer of the ornithine transcarbamylase gene. | Hum Mutat | 2018 |
| 30596645 | Enabling precision medicine via standard communication of HTS provenance, analysis, and results. | PLoS Biol | 2018 |
| 28283349 | AAV gene therapy corrects OTC deficiency and prevents liver fibrosis in aged OTC-knock out heterozygous mice. | Molecular Genetics and Metabolism | 2017 |
| 28755746 | Genome-wide profiling of differentially spliced mRNAs in human fetal cortical tissue exposed to alcohol. | | 2017 |
| 28473971 | Design and Implementation of the Hepatorenal Fibrocystic Disease Core Center Clinical Database: A Centralized Resource for Characterizing Autosomal Recessive Polycystic Kidney Disease and Other Hepatorenal Fibrocystic Diseases. | Frontiers in Pediatrics | 2017 |
| 27934952 | Effect of arginine on oligomerization and stability of N-acetylglutamate synthase. | Scientific Reports | 2016 |
| 26829317 | A dual AAV system enables the Cas9-mediated correction of a metabolic liver disease in newborn mice. | Nat Biotechnol | 2016 |
| 26059767 | Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update. | Journal of Genetics and Genomics | 2015 |
| 25580472 | Predicting the severity of motor neuron disease progression using electronic health record data with a cloud computing Big Data approach. | | 2014 |
| 22133298 | Preclinical evaluation of a clinical candidate AAV8 vector for ornithine transcarbamylase (OTC) deficiency reveals functional enzyme from each persisting vector genome. | Molecular Genetics and Metabolism | 2012 |
| 22503289 | A novel biochemically salvageable animal model of hyperammonemia devoid of N-acetylglutamate synthase. | Molecular Genetics and Metabolism | 2012 |
| 21850052 | Sustained correction of OTC deficiency in spf(â¿¿ash) mice using optimized self-complementary AAV2/8 vectors. | Gene Therapy | 2012 |
| 21775517 | Adeno-associated virus antibody profiles in newborns, children, and adolescents. | Clinical and Vaccine Immunology | 2011 |
| 21917775 | GFAP mutations, age at onset, and clinical subtypes in Alexander disease. | Neurology | 2011 |
| 19861950 | Systematic evaluation of AAV vectors for liver directed gene transfer in murine models. | Molecular Therapy | 2010 |
| 19888196 | The pleiotropic effects of natural AAV infections on liver-directed gene transfer in macaques. | Molecular Therapy | 2010 |
| 20303810 | N-acetylglutamate synthase: structure, function and defects. | Molecular Genetics and Metabolism | 2010 |
| 19095660 | Mechanism of allosteric inhibition of N-acetyl-L-glutamate synthase by L-arginine. | Journal of Biological Chemistry | 2009 |
| 18263758 | Genetic and clinical heterogeneity in eIF2B-related disorder. | J Child Neurol | 2008 |
| 18801197 | Inversion of allosteric effect of arginine on N-acetylglutamate synthase, a molecular marker for evolution of tetrapods. | BMC Biochemistry | 2008 |
| 18184660 | The crystal structure of N-acetyl-L-glutamate synthase from Neisseria gonorrhoeae provides insights into mechanisms of catalysis and regulation. | Journal of Biological Chemistry | 2008 |
| 17600144 | A single mutation in the active site swaps the substrate specificity of N-acetyl-L-ornithine transcarbamylase and N-succinyl-L-ornithine transcarbamylase. | Protein Science | 2007 |
| 17425781 | A novel bifunctional N-acetylglutamate synthase-kinase from Xanthomonas campestris that is closely related to mammalian N-acetylglutamate synthase. | BMC Biochemistry | 2007 |
| 17421020 | Mutations and polymorphisms in the human N-acetylglutamate synthase (NAGS) gene. | Human Mutation | 2007 |
| 16321554 | Biochemical properties of recombinant human and mouse N-acetylglutamate synthase. | Molecular Genetics and Metabolism | 2006 |
| 17142901 | Expression, crystallization and preliminary crystallographic studies of a novel bifunctional N-acetylglutamate synthase/kinase from Xanthomonas campestris homologous to vertebrate N-acetylglutamate synthase. | | 2006 |
| 16704984 | Structure and catalytic mechanism of a novel N-succinyl-L-ornithine transcarbamylase in arginine biosynthesis of Bacteroides fragilis. | Journal of Biological Chemistry | 2006 |
| 16741992 | Structures of N-acetylornithine transcarbamoylase from Xanthomonas campestris complexed with substrates and substrate analogs imply mechanisms for substrate binding and catalysis. | Proteins: Structure, Function and Bioinformatics | 2006 |
| 16677864 | Long-term correction of ammonia metabolism and prolonged survival in ornithine transcarbamylase-deficient mice following liver-directed treatment with adeno-associated viral vectors. | Molecular Therapy | 2006 |
| 16786505 | Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene. | Human Mutation | 2006 |
| 16585758 | Acetylornithine transcarbamylase: a novel enzyme in arginine biosynthesis. | Journal of Bacteriology | 2006 |
| 16256388 | The use of yeast mitochondria to study the properties of wild-type and mutant human mitochondrial ornithine transporter. | Molecular Genetics and Metabolism | 2005 |
| 15714518 | Late onset N-acetylglutamate synthase deficiency caused by hypomorphic alleles. | Human Mutation | 2005 |
| 15731101 | Crystal structure of N-acetylornithine transcarbamylase from Xanthomonas campestris: a novel enzyme in a new arginine biosynthetic pathway found in several eubacteria. | Journal of Biological Chemistry | 2005 |
| 16511126 | Expression, purification, crystallization and preliminary X-ray crystallographic studies of a novel acetylcitrulline deacetylase from Xanthomonas campestris. | | 2005 |
| 15050968 | Mammalian N-acetylglutamate synthase. | Molecular Genetics and Metabolism | 2004 |
| 15480384 | Restoration of ureagenesis in N-acetylglutamate synthase deficiency by N-carbamylglutamate. | Journal of Pediatrics | 2004 |
| 12594532 | Null mutations in the N-acetylglutamate synthase gene associated with acute neonatal disease and hyperammonemia. | Human Genetics | 2003 |
| 12049647 | Identification, cloning and expression of the mouse N-acetylglutamate synthase gene. | Biochemical Journal | 2002 |
| 12459178 | Cloning and expression of the human N-acetylglutamate synthase gene. | Biochemical and Biophysical Research Communications | 2002 |
| 12095263 | Crystal structure of a transcarbamylase-like protein from the anaerobic bacterium Bacteroides fragilis at 2.0 A resolution. | Journal of Molecular Biology | 2002 |
| 11793468 | Mutations and polymorphisms in the human ornithine transcarbamylase gene. | Human Mutation | 2002 |
| 11320316 | Crystallization and preliminary X-ray crystallographic studies of wild-type human ornithine transcarbamylase and two naturally occurring mutants at position 277. | Acta Crystallogr D Biol Crystallogr | 2001 |