Literature DB >> 3570300

Structure of an abnormal messenger RNA for argininosuccinate synthetase in citrullinemia.

K Kobayashi, H Ichiki, T Saheki, M Tatsuno, C Uchiyama, O Nukada, T Yoda.   

Abstract

The structural abnormality of mRNA for argininosuccinate synthetase (ASS) and the structure of immune cross-reactive material for ASS (ASS-CRM) in the liver of a patient with type III citrullinemia were analyzed using dot and Northern blot hybridization, S1 nuclease analysis, and a sensitive enzyme-linked immunosorbent assay. The patient's liver contained no detectable ASS activity, the ASS-CRM content was about 0.5% of that in the control and the ASS mRNA content was almost normal. The ASS mRNA of the case was found to have an apparent structural abnormality; approximately 1.57 kb in length caused by a defect of about 0.1 kb near the 3' end of the coding region. Furthermore, gel filtration analysis revealed that the ASS-CRM had a molecular weight indistinguishable from the control ASS. These results indicate that the abnormal mRNA of the patient was translated in vivo to an immune-cross-reactive protein that was able to form a quaternary structure.

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Year:  1987        PMID： 3570300     DOI： 10.1007/bf00283045

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  22 in total

1.  Analysis of the enzyme abnormality in eight cases of neonatal and infantile citrullinaemia in Japan.

Authors:  T Saheki; K Nakano; K Kobayashi; Y Imamura; Y Itakura; M Sase; S Hagihara; S Matuo
Journal:  J Inherit Metab Dis       Date:  1985       Impact factor: 4.982

2.  Hybridization of denatured RNA and small DNA fragments transferred to nitrocellulose.

Authors:  P S Thomas
Journal:  Proc Natl Acad Sci U S A       Date:  1980-09       Impact factor: 11.205

3.  Molecular structure of the human argininosuccinate synthetase gene: occurrence of alternative mRNA splicing.

Authors:  S O Freytag; A L Beaudet; H G Bock; W E O'Brien
Journal:  Mol Cell Biol       Date:  1984-10       Impact factor: 4.272

4.  Sequence for human argininosuccinate synthetase cDNA.

Authors:  H G Bock; T S Su; W E O'Brien; A L Beaudet
Journal:  Nucleic Acids Res       Date:  1983-09-24       Impact factor: 16.971

5.  Cloning of cDNA for argininosuccinate synthetase mRNA and study of enzyme overproduction in a human cell line.

Authors:  T S Su; H G Bock; W E O'Brien; A L Beaudet
Journal:  J Biol Chem       Date:  1981-11-25       Impact factor: 5.157

6.  Enzymatic analysis of citrullinemia (12 cases) in Japan.

Authors:  T Saheki; A Ueda; M Hosoya; M Sase; K Nakano; T Katsunuma
Journal:  Adv Exp Med Biol       Date:  1982       Impact factor: 2.622

7.  Preparation of monomeric Fab'-horseradish peroxidase conjugate using thiol groups in the hinge and its evaluation in enzyme immunoassay and immunohistochemical staining.

Authors:  E Ishikawa; S Yoshitake; M Imagawa; A Sumiyoshi
Journal:  Ann N Y Acad Sci       Date:  1983       Impact factor: 5.691

8.  Argininosuccinate synthetase activity in cultured skin fibroblasts of citrullinemic patients.

Authors:  T Saheki; A Ueda; K Iizima; N Yamada; K Kobayashi; K Takahashi; T Katsunuma
Journal:  Clin Chim Acta       Date:  1982-01-05       Impact factor: 3.786

9.  Human chromosomal assignments for 14 argininosuccinate synthetase pseudogenes: cloned DNAs as reagents for cytogenetic analysis.

Authors:  T S Su; R L Nussbaum; S Airhart; D H Ledbetter; T Mohandas; W E O'Brien; A L Beaudet
Journal:  Am J Hum Genet       Date:  1984-09       Impact factor: 11.025

10.  Molecular analysis of argininosuccinate synthetase deficiency in human fibroblasts.

Authors:  T S Su; H G Bock; A L Beaudet; W E O'Brien
Journal:  J Clin Invest       Date:  1982-12       Impact factor: 14.808
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  5 in total

1.  Hepatocellular carcinoma associated with adult-type citrullinemia.

Authors:  T Ito; K Shiraki; K Sekoguchi; T Yamanaka; K Sugimoto; K Takase; Y Tameda; T Nakano
Journal:  Dig Dis Sci       Date:  2000-11       Impact factor: 3.199

2.  Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia.

Authors:  T Yasuda; N Yamaguchi; K Kobayashi; I Nishi; H Horinouchi; M A Jalil; M X Li; M Ushikai; M Iijima; I Kondo; T Saheki
Journal:  Hum Genet       Date:  2000-12       Impact factor: 4.132

Review 3.  Pathogenesis and pathophysiology of citrin (a mitochondrial aspartate glutamate carrier) deficiency.

Authors:  Takeyori Saheki; Keiko Kobayashi; Mikio Iijima; Ikumi Nishi; Tomotsugu Yasuda; Naoki Yamaguchi; Hong Zhi Gao; Md Abdul Jalil; Laila Begum; Meng Xian Li
Journal:  Metab Brain Dis       Date:  2002-12       Impact factor: 3.584

4.  Nature and frequency of mutations in the argininosuccinate synthetase gene that cause classical citrullinemia.

Authors:  K Kobayashi; H Kakinoki; T Fukushige; N Shaheen; H Terazono; T Saheki
Journal:  Hum Genet       Date:  1995-10       Impact factor: 4.132

5.  Mutations in argininosuccinate synthetase mRNA of Japanese patients, causing classical citrullinemia.

Authors:  K Kobayashi; N Shaheen; H Terazono; T Saheki
Journal:  Am J Hum Genet       Date:  1994-12       Impact factor: 11.025
  5 in total

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