Literature DB >> 7093283

Ornithine transcarbamylase deficiencies in human males. Kinetic and immunochemical classification.

P Briand, B Francois, D Rabier, L Cathelineau.   

Abstract

Enzymatic activities and kinetics of liver ornithine transcarbamylase (carbamoylphosphate:L-ornithine carbamoyltransferase) were studied in 16 human males with ornithine transcarbamylase mutations. In the same liver fragments, cross-reactive material was measured with specific anti-ornithine transcarbamylase antibody. These studies allowed us to describe five groups of mutations. Two of them were similar on the basis of their enzymatic properties and cross-reactive material amounts to two mouse ornithine transcarbamylase mutations:sparse-fur (spf) and sparse-fur with abnormal skin and hair (spf-ash).

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Year:  1982        PMID： 7093283     DOI： 10.1016/0167-4838(82)90136-4

Source DB:  PubMed          Journal:  Biochim Biophys Acta        ISSN： 0006-3002


  26 in total

1.  A novel missense mutation in exon 8 of the ornithine transcarbamylase gene in two unrelated male patients with mild ornithine transcarbamylase deficiency.

Authors:  A Hata; T Matsuura; C Setoyama; K Shimada; T Yokoi; I Akaboshi; I Matsuda
Journal:  Hum Genet       Date:  1991-05       Impact factor: 4.132

2.  Ornithine transcarbamylase deficiency: a case with a truncated enzyme precursor and a case with undetectable mRNA activity.

Authors:  H Kodama; A Ohtake; M Mori; I Okabe; M Tatibana; S Kamoshita
Journal:  J Inherit Metab Dis       Date:  1986       Impact factor: 4.982

3.  Kinetic abnormalities of carbamyl phosphate synthetase-I in a case of congenital hyperammonaemia.

Authors:  I A Qureshi; J Letarte; R Ouellet; B Lemieux; L Cathelineau
Journal:  J Inherit Metab Dis       Date:  1986       Impact factor: 4.982

4.  Ornithine carbamoyltransferase deficiency with subnormal enzyme activity.

Authors:  D Rabier; B Guillois; J Bardet; C Deprun; P Parvy; P Kamoun
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

5.  Metabolism of citrulline in man.

Authors:  D Rabier; P Kamoun
Journal:  Amino Acids       Date:  1995-12       Impact factor: 3.520

6.  Molecular basis of ornithine transcarbamylase deficiency in spf and spf-ash mutant mice.

Authors:  A Ohtake; M Takayanagi; S Yamamoto; H Kakinuma; H Nakajima; M Tatibana; M Mori
Journal:  J Inherit Metab Dis       Date:  1986       Impact factor: 4.982

7.  An arginine to glutamine mutation in residue 109 of human ornithine transcarbamylase completely abolishes enzymatic activity in Cos1 cells.

Authors:  J T Lee; R L Nussbaum
Journal:  J Clin Invest       Date:  1989-12       Impact factor: 14.808

8.  Decreased hyperammonaemia and orotic aciduria due to inactivation of ornithine aminotransferase in mice with a hereditary abnormal ornithine carbamoyltransferase.

Authors:  N Seiler; C Grauffel; G Daune-Anglard; S Sarhan; B Knödgen
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

9.  Four novel gene mutations in five Japanese male patients with neonatal or late onset OTC deficiency: application of PCR-single-strand conformation polymorphisms for all exons and adjacent introns [corrected].

Authors:  T Matsuura; R Hoshide; C Setoyama; K Shimada; Y Hase; T Yanagawa; M Kajita; I Matsuda
Journal:  Hum Genet       Date:  1993-08       Impact factor: 4.132

10.  Genetically controlled quantitative variation of ornithine transcarbamylase in the chick kidney.

Authors:  S Tsuji; K Nakagawa; T Fukushima
Journal:  Biochem Genet       Date:  1983-10       Impact factor: 1.890
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