Minimal ureagenesis is necessary for survival in the murine model of hyperargininemia treated by AAV-based gene therapy.

PubWeight™: 0.82‹?›

🔗 View Article (PMC 4320015)

Published in Gene Ther on December 04, 2014

Authors

C Hu1, D S Tai1, H Park1, G Cantero1, G Cantero-Nieto, E Chan1, M Yudkoff2, S D Cederbaum3, G S Lipshutz4

Author Affiliations

1: Department of Surgery, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
2: Division of Metabolic Disease, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, USA.
3: 1] Department of Pediatrics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA [2] Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA [3] Department of Psychiatry, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA [4] The Intellectual and Developmental Disabilities Research Center at UCLA, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA [5] The Semel Institute for Neuroscience, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
4: 1] Department of Surgery, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA [2] Department of Psychiatry, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA [3] The Intellectual and Developmental Disabilities Research Center at UCLA, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA [4] The Semel Institute for Neuroscience, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA [5] Department of Medicine, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA [6] Department of Urology, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA [7] Broad Center of Regenerative Medicine and Stem Cell Research, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.

Articles cited by this

Treatment of inborn errors of urea synthesis: activation of alternative pathways of waste nitrogen synthesis and excretion. N Engl J Med (1982) 2.34

o-Phthaldialdehyde precolumn derivatization and reversed-phase high-performance liquid chromatography of polypeptide hydrolysates and physiological fluids. J Chromatogr (1983) 2.26

Mouse model for human arginase deficiency. Mol Cell Biol (2002) 1.88

Argininemia: a treatable genetic cause of progressive spastic diplegia simulating cerebral palsy: case reports and literature review. J Child Neurol (1997) 1.79

Long-term correction of ammonia metabolism and prolonged survival in ornithine transcarbamylase-deficient mice following liver-directed treatment with adeno-associated viral vectors. Mol Ther (2006) 1.64

Proceedings of a consensus conference for the management of patients with urea cycle disorders. J Pediatr (2001) 1.51

N-carbamylglutamate markedly enhances ureagenesis in N-acetylglutamate deficiency and propionic acidemia as measured by isotopic incorporation and blood biomarkers. Pediatr Res (2008) 1.44

RH10 provides superior transgene expression in mice when compared with natural AAV serotypes for neonatal gene therapy. J Gene Med (2010) 1.38

AAV2/8-mediated correction of OTC deficiency is robust in adult but not neonatal Spf(ash) mice. Mol Ther (2009) 1.22

Restoration of ureagenesis in N-acetylglutamate synthase deficiency by N-carbamylglutamate. J Pediatr (2004) 1.18

AAV-based neonatal gene therapy for hemophilia A: long-term correction and avoidance of immune responses in mice. Gene Ther (2012) 1.12

Short-term correction of arginase deficiency in a neonatal murine model with a helper-dependent adenoviral vector. Mol Ther (2009) 1.10

Effects of a single dose of N-carbamylglutamate on the rate of ureagenesis. Mol Genet Metab (2009) 1.09

Long-term survival of the juvenile lethal arginase-deficient mouse with AAV gene therapy. Mol Ther (2012) 1.02

Measuring in vivo ureagenesis with stable isotopes. Mol Genet Metab (2010) 1.01

Arginase deficiency with lethal neonatal expression: evidence for the glutamine hypothesis of cerebral edema. J Pediatr (2003) 1.01

AAV-based gene therapy prevents neuropathology and results in normal cognitive development in the hyperargininemic mouse. Gene Ther (2013) 0.97

Myocyte-mediated arginase expression controls hyperargininemia but not hyperammonemia in arginase-deficient mice. Mol Ther (2014) 0.97

Arginase I deficiency: severe infantile presentation with hyperammonemia: more common than reported? Mol Genet Metab (2011) 0.94

Lethal phenotype in conditional late-onset arginase 1 deficiency in the mouse. Mol Genet Metab (2013) 0.94

Insulin decreases and hydrocortisone increases the synthesis of glutamine synthetase in cultured 3T3-L1 adipocytes. J Biol Chem (1983) 0.90

In vivo measurement of ureagenesis with stable isotopes. J Inherit Metab Dis (1998) 0.87

Adeno-associated virus-mediated rescue of neonatal lethality in argininosuccinate synthetase-deficient mice. Mol Ther (2013) 0.86

Stable isotopes in the diagnosis and treatment of inherited hyperammonemia. J Pediatr Biochem (2014) 0.84