Datamining approaches for examining the low prevalence of N‐acetylglutamate synthase deficiency and understanding transcriptional regulation of urea cycle genes

Impact of small molecule‐mediated inhibition of ammonia detoxification on lung malignancies and liver metabolism

(2023) Georgios Makris et al.   Cancer Communications

NAGS, CPS1, and SLC25A13 (Citrin) at the Crossroads of Arginine and Pyrimidines Metabolism in Tumor Cells

(2023) Melissa Owusu-Ansah et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

The Effects of Pregnancy on Amino Acid Levels and Nitrogen Disposition

(2023) Luke F. Enthoven et al.   Metabolites

Clinical manifestation and long‐term outcome of citrin deficiency: report from a nationwide study in Japan

(2022) Jun Kido et al.   JOURNAL OF INHERITED METABOLIC DISEASE

A promoter variant in the OTC gene associated with late and variable age of onset hyperammonemia

(2022) Sangwoo T. Han et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Coming full circle: On the origin and evolution of the looping model for enhancer–promoter communication

(2022) Tessa M. Popay et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Non‐coding sequence variants define a novel regulatory element in the first intron of the N‐acetylglutamate synthase gene.

(2021) Johannes Häberle et al.   HUMAN MUTATION

AMPK increases expression of ATM through transcriptional factor Sp1 and induces radioresistance under severe hypoxia in glioblastoma cell lines

(2021) Takuma Hashimoto et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

ZO-2 favors Hippo signaling, and its re-expression in the steatotic liver by AMPK restores junctional sealing

(2021) Laura González-González et al.   Tissue Barriers

Bioinformatic and functional analysis of promoter region of human SLC25A13 gene

(2019) Jun-Lin Chen et al.   GENE

Transcriptional Regulation Factors of the Human Mitochondrial Aspartate/Glutamate Carrier Gene, Isoform 2 (SLC25A13): USF1 as Basal Factor and FOXA2 as Activator in Liver Cells

(2019) Paolo Convertini et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision

(2019) Johannes Häberle et al.   JOURNAL OF INHERITED METABOLIC DISEASE

AMP‐activated protein kinase signaling regulated expression of urea cycle enzymes in response to changes in dietary protein intake

(2019) Sandra K. Heibel et al.   JOURNAL OF INHERITED METABOLIC DISEASE

New developments on the Encyclopedia of DNA Elements (ENCODE) data portal

(2019) Yunhai Luo et al.   NUCLEIC ACIDS RESEARCH

TADs and Their Borders: Free Movement or Building a Wall?

(2019) Li-Hsin Chang et al.   JOURNAL OF MOLECULAR BIOLOGY

Optimizing combination of liver-enriched transcription factors and nuclear receptors simultaneously favors ammonia and drug metabolism in liver cells

(2018) Yongfa Su et al.   EXPERIMENTAL CELL RESEARCH

Disease-causing mutations in the promoter and enhancer of the ornithine transcarbamylase gene

(2018) Yoon J. Jang et al.   HUMAN MUTATION

Urea Cycle Dysregulation Generates Clinically Relevant Genomic and Biochemical Signatures

(2018) Joo Sang Lee et al.   CELL

The activity of the carbamoyl phosphate synthase 1 promoter in human liver-derived cells is dependent on hepatocyte nuclear factor 3-beta

(2017) Zhanfei Chen et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

CPS1 maintains pyrimidine pools and DNA synthesis in KRAS/LKB1-mutant lung cancer cells

(2017) Jiyeon Kim et al.   NATURE

Understanding N-Acetyl-L-Glutamate Synthase Deficiency: Mutational Spectrum, Impact of Clinical Mutations on Enzyme Functionality, and Structural Considerations

(2016) Enea Sancho-Vaello et al.   HUMAN MUTATION

Role of CPS1 in Cell Growth, Metabolism, and Prognosis in LKB1-Inactivated Lung Adenocarcinoma

(2016) Müge Çeliktaş et al.   JNCI-Journal of the National Cancer Institute

Argininosuccinate synthetase regulates hepatic AMPK linking protein catabolism and ureagenesis to hepatic lipid metabolism

(2016) Anila K. Madiraju et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Molecular diagnosis of pediatric patients with citrin deficiency in China: SLC25A13 mutation spectrum and the geographic distribution

(2016) Wei-Xia Lin et al.   Scientific Reports

Effect of arginine on oligomerization and stability of N-acetylglutamate synthase

(2016) N. Haskins et al.   Scientific Reports

Role of CPS1 in Cell Growth, Metabolism, and Prognosis in LKB1-Inactivated Lung Adenocarcinoma

(2016) Müge Çeliktaş et al.   JNCI-Journal of the National Cancer Institute

Diversion of aspartate in ASS1-deficient tumours fosters de novo pyrimidine synthesis

(2015) Shiran Rabinovich et al.   NATURE

Structure of human carbamoyl phosphate synthetase: deciphering the on/off switch of human ureagenesis

(2015) Sergio de Cima et al.   Scientific Reports

Structure of N-acetyl-l-glutamate synthase/kinase from Maricaulis maris with the allosteric inhibitor l-arginine bound

(2013) Gengxiang Zhao et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Acute metabolic decompensation due to influenza in a mouse model of ornithine transcarbamylase deficiency

(2013) P. J. McGuire et al.   Disease Models & Mechanisms

Mutations and Polymorphisms in the HumanArgininosuccinate Lyase(ASL) Gene

(2013) Cécile Balmer et al.   HUMAN MUTATION

Infectious Precipitants of Acute Hyperammonemia Are Associated with Indicators of Increased Morbidity in Patients with Urea Cycle Disorders

(2013) Peter J. McGuire et al.   JOURNAL OF PEDIATRICS

The incidence of urea cycle disorders

(2013) Marshall L. Summar et al.   MOLECULAR GENETICS AND METABOLISM

Crystal Structure of the N-Acetyltransferase Domain of Human N-Acetyl-L-Glutamate Synthase in Complex with N-Acetyl-L-Glutamate Provides Insights into Its Catalytic and Regulatory Mechanisms

(2013) Gengxiang Zhao et al.   PLoS One

A novel biochemically salvageable animal model of hyperammonemia devoid of N-acetylglutamate synthase

(2012) Emilee Senkevitch et al.   MOLECULAR GENETICS AND METABOLISM

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Transcriptional Regulation of N-Acetylglutamate Synthase

(2012) Sandra Kirsch Heibel et al.   PLoS One

The nuclear receptor FXR regulates hepatic transport and metabolism of glutamine and glutamate

(2011) Barbara Renga et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Carbamoyl Phosphate Synthetase 1 deficiency in Italy: Clinical and genetic findings in a heterogeneous cohort

(2011) S. Funghini et al.   GENE

N-carbamylglutamate enhancement of ureagenesis leads to discovery of a novel deleterious mutation in a newly defined enhancer of the NAGS gene and to effective therapy

(2011) Sandra K. Heibel et al.   HUMAN MUTATION

A Novel N-Acetylglutamate Synthase Architecture Revealed by the Crystal Structure of the Bifunctional Enzyme from Maricaulis maris

(2011) Dashuang Shi et al.   PLoS One

Expression, Purification and Characterization of Arginase from Helicobacter pylori in Its Apo Form

(2011) Jinyong Zhang et al.   PLoS One

Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations

(2010) Johannes Häberle et al.   HUMAN MUTATION

High-frequency detection of deletions and variable rearrangements at the ornithine transcarbamylase (OTC) locus by oligonucleotide array CGH

(2009) Oleg A. Shchelochkov et al.   MOLECULAR GENETICS AND METABOLISM

Contiguous gene deletion syndrome in a female with ornithine transcarbamylase deficiency

(2009) S. Balasubramaniam et al.   MOLECULAR GENETICS AND METABOLISM

N-carbamylglutamate Markedly Enhances Ureagenesis in N-acetylglutamate Deficiency and Propionic Acidemia as Measured by Isotopic Incorporation and Blood Biomarkers

(2009) Mendel Tuchman et al.   PEDIATRIC RESEARCH

Identification of a liver-specific cAMP response element in the human argininosuccinate synthetase gene

(2008) Tai-Ru Guei et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Inversion of allosteric effect of arginine on N-acetylglutamate synthase, a molecular marker for evolution of tetrapods

(2008) Nantaporn Haskins et al.   BMC BIOCHEMISTRY

Site-directed mutagenesis studies of acetylglutamate synthase delineate the site for the arginine inhibitor

(2008) Enea Sancho-Vaello et al.   FEBS LETTERS

The Crystal Structure ofN-Acetyl-L-glutamate Synthase fromNeisseria gonorrhoeaeProvides Insights into Mechanisms of Catalysis and Regulation

(2008) Dashuang Shi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Mechanism of Allosteric Inhibition ofN-Acetyl-L-glutamate Synthase by L-Arginine

(2008) Li Min et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Contrasting features of urea cycle disorders in human patients and knockout mouse models

(2008) Joshua L. Deignan et al.   MOLECULAR GENETICS AND METABOLISM