Molecular Characterization of Carbamoyl-Phosphate Synthetase (CPS1) Deficiency Using Human Recombinant CPS1 as a Key Tool-Reference-Cited by-同舟云学术

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

Published:2013-05-28 Issue:8 Volume:34 Page:1149-1159
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Diez-Fernandez Carmen¹²,Martínez Ana I.²,Pekkala Satu²,Barcelona Belén¹²³,Pérez-Arellano Isabel²³,Guadalajara Ana María²,Summar Marshall⁴,Cervera Javier¹²³,Rubio Vicente¹³

Affiliation:

1. Instituto de Biomedicina de Valencia (IBV-CSIC); Valencia Spain

2. Centro de Investigación Príncipe Felipe; Valencia Spain

3. Group 739, CIBERER, ISCIII; Spain

4. Childrens National Medical Center; Washington District of Columbia

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22349/fullpdf

Reference53 articles.

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3. Oxidative inactivation of carbamoyl phosphate synthetase (ammonia). Mechanism and sites of oxidation, degradation of the oxidized enzyme, and inactivation by glycerol, EDTA, and thiol protecting agents;Alonso;J Biol Chem,1992

4. Changes in urea cycle-related metabolites in the mouse after combined administration of valproic acid and an amino acid load;Alonso;Arch Biochem Biophys,1989

5. Binding of N-acetyl-L-glutamate to rat liver carbamoyl phosphate synthetase (ammonia);Alonso;Eur J Biochem,1983

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