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Genotype--Phenotype Correlations in Ornithine Transcarbamylase Deficiency： A Mutation Update

Journal of genetics and genomics, 2015-05, Vol.42 (5), p.181-194

2015

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

International journal of molecular sciences, 2023-04, Vol.24 (7), p.6754

2023

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The Urine Microbiome of Healthy Men and Women Differs by Urine Collection Method

International Neurourology Journal, 2020, 24(1), , pp.41-51

2020

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Sources and Fates of Carbamyl Phosphate: A Labile Energy-Rich Molecule with Multiple Facets

Biology (Basel, Switzerland), 2018-06, Vol.7 (2), p.34

2018

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

Human mutation, 2018-04, Vol.39 (4), p.527-536

2018

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N-acetylglutamate and its changing role through evolution

Biochemical journal, 2003-06, Vol.372 (Pt 2), p.279-290

2003

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Mitochondrial Enzymes of the Urea Cycle Cluster at the Inner Mitochondrial Membrane

Frontiers in physiology, 2021-01, Vol.11, p.542950-542950

2021

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Expression pattern and biochemical properties of zebrafish N-acetylglutamate synthase

PloS one, 2014-01, Vol.9 (1), p.e85597-e85597

2014

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Transcription factor Ap2b regulates the mouse autosomal recessive polycystic kidney disease genes, Pkhd1 and Cys1

Frontiers in molecular biosciences, 2023-01, Vol.9, p.946344-946344

2023

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P007: PP4 criteria specifications for proximal urea cycle disorders

Genetics in Medicine Open, 2024, Vol.2, p.100884

2024

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Differential regulation of MYC expression by PKHD1/Pkhd1 in human and mouse kidneys: phenotypic implications for recessive polycystic kidney disease

Frontiers in cell and developmental biology, 2023-11, Vol.11, p.1270980-1270980

2023

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Mutations and polymorphisms in the human N-acetylglutamate synthase (NAGS) gene

Human mutation, 2007-08, Vol.28 (8), p.754-759

2007

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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

Human mutation, 2011-10, Vol.32 (10), p.1153-1160

2011

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GJC2 promoter mutations causing Pelizaeus–Merzbacher-like disease

Molecular genetics and metabolism, 2014-03, Vol.111 (3), p.393-398

2014

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Assessing Protein Interactions for Clustering of Mitochondrial Urea Cycle Enzymes

Methods in molecular biology (Clifton, N.J.), 2022, Vol.2487, p.73

2022

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

The Journal of biological chemistry, 2009-02, Vol.284 (8), p.4873-4880

2009

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The Crystal Structure of N-Acetyl-L-glutamate Synthase from Neisseria gonorrhoeae Provides Insights into Mechanisms of Catalysis and Regulation

The Journal of biological chemistry, 2008-03, Vol.283 (11), p.7176-7184

2008

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Fifteen years of urea cycle disorders brain research: Looking back, looking forward

Analytical biochemistry, 2022-01, Vol.636, p.114343-114343, Article 114343

2022

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Cloning and expression of the human N-acetylglutamate synthase gene

Biochemical and biophysical research communications, 2002-12, Vol.299 (4), p.581-586

2002

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INAGS/I, ICPS1/I, and ISLC25A13/I at the Crossroads of Arginine and Pyrimidines Metabolism in Tumor Cells

International journal of molecular sciences, 2023-04, Vol.24 (7)

2023

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Molecular regulation of enzymes in protein catabolism

Molecular genetics and metabolism, 2024-04, Vol.141 (4)

2024

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Assessing the functional impact of ASL missense variants using high throughput yeast assays

Molecular genetics and metabolism, 2024-04, Vol.141 (4)

2024

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

BMC biochemistry, 2008-09, Vol.9 (1), p.24-24, Article 24

2008

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Cystin is required for maintaining fibrocystin (FPC) levels and safeguarding proteome integrity in mouse renal epithelial cells

The FASEB journal, 2023-07, Vol.37 (7), p.n/a

2023

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Cystin is required for maintaining fibrocystin (FPC) levels and safeguarding proteome integrity in mouse renal epithelial cells: A mechanistic connection between the kidney defects in

The FASEB journal, 2023-06, Vol.37 (7)

2023

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Genotype--Phenotype Correlations in Ornithine Transcarbamylase Deficiency： A Mutation Update

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

The Urine Microbiome of Healthy Men and Women Differs by Urine Collection Method

Sources and Fates of Carbamyl Phosphate: A Labile Energy-Rich Molecule with Multiple Facets

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

N-acetylglutamate and its changing role through evolution

Mitochondrial Enzymes of the Urea Cycle Cluster at the Inner Mitochondrial Membrane

Expression pattern and biochemical properties of zebrafish N-acetylglutamate synthase

Transcription factor Ap2b regulates the mouse autosomal recessive polycystic kidney disease genes, Pkhd1 and Cys1

P007: PP4 criteria specifications for proximal urea cycle disorders

Differential regulation of MYC expression by PKHD1/Pkhd1 in human and mouse kidneys: phenotypic implications for recessive polycystic kidney disease

Mutations and polymorphisms in the human N-acetylglutamate synthase (NAGS) 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

GJC2 promoter mutations causing Pelizaeus–Merzbacher-like disease

Assessing Protein Interactions for Clustering of Mitochondrial Urea Cycle Enzymes

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

The Crystal Structure of N-Acetyl-L-glutamate Synthase from Neisseria gonorrhoeae Provides Insights into Mechanisms of Catalysis and Regulation

Fifteen years of urea cycle disorders brain research: Looking back, looking forward

Cloning and expression of the human N-acetylglutamate synthase gene

INAGS/I, ICPS1/I, and ISLC25A13/I at the Crossroads of Arginine and Pyrimidines Metabolism in Tumor Cells

Molecular regulation of enzymes in protein catabolism

Assessing the functional impact of ASL missense variants using high throughput yeast assays

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

Cystin is required for maintaining fibrocystin (FPC) levels and safeguarding proteome integrity in mouse renal epithelial cells

Cystin is required for maintaining fibrocystin (FPC) levels and safeguarding proteome integrity in mouse renal epithelial cells: A mechanistic connection between the kidney defects in

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