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

Understanding carbamoyl-phosphate synthetase I (CPS1) deficiency by using expression studies and structure-based analysis

(2010) Satu Pekkala et al.   HUMAN MUTATION

Structural insight on the control of urea synthesis: identification of the binding site forN-acetyl-L-glutamate, the essential allosteric activator of mitochondrial carbamoyl phosphate synthetase1

(2009) Satu Pekkala et al.   BIOCHEMICAL JOURNAL

A case of carbamoyl phosphate synthetase 1 deficiency presenting symptoms at one month of age

(2009) Hiroaki Ono et al.   BRAIN & DEVELOPMENT

Highly variable clinical phenotype of carbamylphosphate synthetase 1 deficiency in one family: an effect of allelic variation in gene expression?

(2009) V Klaus et al.   CLINICAL GENETICS

Quantitative RT-PCR comparison of the urea and nitric oxide cycle gene transcripts in adult human tissues

(2009) Meaghan Anne Neill et al.   MOLECULAR GENETICS AND METABOLISM

Role for the Regulator of G-Protein Signaling Homology Domain of G Protein-Coupled Receptor Kinases 5 and 6 in  2-Adrenergic Receptor and Rhodopsin Phosphorylation

(2009) F. Baameur et al.   MOLECULAR PHARMACOLOGY

Diagnosis, symptoms, frequency and mortality of 260 patients with urea cycle disorders from a 21-year, multicentre study of acute hyperammonaemic episodes

(2008) Marshall L Summar et al.   ACTA PAEDIATRICA

Population screening in a Druze community: the challenge and the reward

(2008) Tzipora C Falik-Zaccai et al.   GENETICS IN MEDICINE

Genetic variation in the urea cycle: a model resource for investigating key candidate genes for common diseases

(2008) Sabrina Mitchell et al.   HUMAN MUTATION

Role of Cys-1327 and Cys-1337 in Redox Sensitivity and Allosteric Monitoring in Human Carbamoyl Phosphate Synthetase

(2008) Emily J. Hart et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Human carbamoyl-phosphate synthetase: Insight into N-acetylglutamate interaction and the functional effects of a common single nucleotide polymorphism

(2008) V. Ahuja et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Cross-sectional multicenter study of patients with urea cycle disorders in the United States

(2008) Mendel Tuchman et al.   MOLECULAR GENETICS AND METABOLISM