scholarly journals N ‐carbamoylglutamate‐responsive carbamoyl phosphate synthetase 1 (CPS1) deficiency: A patient with a novel CPS1 mutation and an experimental study on the mutation's effects

JIMD Reports ◽  
2019 ◽  
Vol 48 (1) ◽  
pp. 36-44 ◽  
Author(s):  
Sufin Yap ◽  
Nadine Gougeard ◽  
Anthony R. Hart ◽  
Belén Barcelona ◽  
Vicente Rubio
Keyword(s):  
Experimental Study ◽  
Carbamoyl Phosphate Synthetase ◽  
Carbamoyl Phosphate ◽  
Carbamoyl Phosphate Synthetase 1 ◽  
Cps1 Deficiency

scholarly journals Expression and specific activities of carbamoyl phosphate synthetase 1 in chronic hypoxic rats

2016 ◽  
Vol 25 (1) ◽  
pp. 3-9
Author(s):  
Uly A. Nikmah ◽  
Ani R. Prijanti ◽  
Sri W.A. Jusman ◽  
Mohamad Sadikin
Keyword(s):  
Specific Activity ◽  
Aerobic Condition ◽  
Hypoxic Condition ◽  
Total Body Weight ◽  
Enzymatic Activities ◽  
Carbamoyl Phosphate Synthetase ◽  
Sprague Dawley ◽  
Carbamoyl Phosphate ◽  
Carbamoyl Phosphate Synthetase 1 ◽  
Specific Activities

Background: Urea biosynthesis is a very important process in the liver which needs ATP, CO2 and functional mitochondria or aerobic condition. Liver can adapt to hypoxic condition, generally and locally. This study aimed to analyze the effect of chronic hypoxia on liver urea biosynthesis as indicated by the level and specific activity of mRNA of carbamoyl phosphate synthetase 1 (CPS1), a key enzyme in urea biosynthesis in hypoxic rats.Methods: 20 male Sprague-Dawley rats were placed in hypoxic chamber supplied by a mixture of 10% O2 and 90% N2. Five rats were sacrificed at 1, 3, 5, and 7 days after exposure. Liver homogenates were analyzed for HIF-1 (hypoxia inducible factor-1) by ELISA, CPS1 mRNA by real time RT-PCR and CPS1 enzymatic specific activities by Pierson method. Data were analyzed by ANOVA test and Pearson correlation.Results: The HIF-1 in liver increased significantly, as well as CPS1 mRNA and CPS1 enzymatic activities (p<0.05). There was a strong correlation (r=0.618; p<0.01) between the level of CPS1 mRNA and CPS1 enzymatic activities, moderate correlation between HIF-1 and CPS1 mRNA (r=0.419; p<0.05) but no correlation between HIF-1 and CPS1 enzymatic activities. The study indicated that urea biosynthesis in liver was affected by hypoxia and partially under HIF-1 regulation. The study also found increase of urea and NH3 biosynthesis related to proteolysis as indicated by the decrease of total body weight and liver weight.Conclusion: There was an increase in the expression and specific activities of CPS1 in urea biosynthesis as a result of increasing proteolysis  in chronic hypoxic condition.

Overexpression of SIRT5 confirms its involvement in deacetylation and activation of carbamoyl phosphate synthetase 1

2010 ◽  
Vol 393 (1) ◽  
pp. 73-78 ◽  
Author(s):  
Masahito Ogura ◽  
Yasuhiko Nakamura ◽  
Daisuke Tanaka ◽  
Xiaotong Zhuang ◽  
Yoshihito Fujita ◽  
...  
Keyword(s):  
Carbamoyl Phosphate Synthetase ◽  
Carbamoyl Phosphate ◽  
Carbamoyl Phosphate Synthetase 1

scholarly journals Molecular Characterization of Carbamoyl-Phosphate Synthetase (CPS1) Deficiency Using Human Recombinant CPS1 as a Key Tool

2013 ◽  
Vol 34 (8) ◽  
pp. 1149-1159 ◽  
Author(s):  
Carmen Diez-Fernandez ◽  
Ana I. Martínez ◽  
Satu Pekkala ◽  
Belén Barcelona ◽  
Isabel Pérez-Arellano ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Carbamoyl Phosphate Synthetase ◽  
Carbamoyl Phosphate ◽  
Cps1 Deficiency
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