Literature DB >> 7028477

Human carbamoylphosphate synthetase I.

V Rubio, S Grisolia.   

Abstract

Carbamoylphosphate synthetase (ammonia) isolated from human liver has been characterized. It is composed of monomers (constituted by a single polypeptide of 160,000 +/- 5,000 Mr) that can associate into dimers, although in the native state the monomer predominates. Physical and kinetic properties and amino acid composition are very similar to those found for the rat liver enzyme. There is extensive immunological cross-reactivity between the enzymes from both species. These results are discussed in the light of a possible regulatory role of carbamoylphosphate synthetase. The implications of these findings on a number of pathological states are also discussed.

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Year:  1981        PMID: 7028477     DOI: 10.1159/000459184

Source DB:  PubMed          Journal:  Enzyme        ISSN: 0013-9432


  5 in total

Review 1.  Monoamine oxidases in development.

Authors:  Chi Chiu Wang; Ellen Billett; Astrid Borchert; Hartmut Kuhn; Christoph Ufer
Journal:  Cell Mol Life Sci       Date:  2012-07-11       Impact factor: 9.261

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

Authors:  Johannes Häberle; Oleg A Shchelochkov; Jing Wang; Panagiotis Katsonis; Lynn Hall; Sara Reiss; Angela Eeds; Alecia Willis; Meeta Yadav; Samantha Summar; Olivier Lichtarge; Vicente Rubio; Lee-Jun Wong; Marshall Summar
Journal:  Hum Mutat       Date:  2011-05-05       Impact factor: 4.878

3.  Molecular genetic research into carbamoyl-phosphate synthase I: molecular defects and linkage markers.

Authors:  M L Summar
Journal:  J Inherit Metab Dis       Date:  1998       Impact factor: 4.982

4.  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.

Authors:  Sufin Yap; Nadine Gougeard; Anthony R Hart; Belén Barcelona; Vicente Rubio
Journal:  JIMD Rep       Date:  2019-05-02

5.  A constitutive knockout of murine carbamoyl phosphate synthetase 1 results in death with marked hyperglutaminemia and hyperammonemia.

Authors:  Suhail Khoja; Matthew Nitzahn; Brian Truong; Jenna Lambert; Brandon Willis; Gabriella Allegri; Véronique Rüfenacht; Johannes Häberle; Gerald S Lipshutz
Journal:  J Inherit Metab Dis       Date:  2019-03-05       Impact factor: 4.750

  5 in total

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