Literature DB >> 3440446

Molecular basis of enzyme abnormalities in urea cycle disorders. With special reference to citrullinemia and argininosuccinic aciduria.

T Saheki1, K Kobayashi, H Ichiki, S Matuo, M Tatsuno, Y Imamura, I Inoue, T Noda, S Hagihara.   

Abstract

This paper deals with enzymological, immunochemical and molecular genetic analyses of citrullinemia and argininosuccinic aciduria. Citrullinemia has been classified by Saheki et al. [J. inher. Metab. Dis. 8: 155-156, 1985] into three types from the properties of the deficient argininosuccinate synthetase (ASS) of the patients. Analysis of hepatic mRNA coding for ASS revealed certain characteristics in type II and III citrullinemic patients whose hepatic ASS protein was low. A newly developed enzyme-linked immunosorbent assay (ELISA) of argininosuccinate lyase (ASL) protein showed that 8 out of ten cases of argininosuccinic aciduria had no detectable ASL protein in the liver, erythrocytes, cultured skin fibroblasts or cultured amniocytes.

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Year:  1987        PMID： 3440446     DOI： 10.1159/000469209

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


  9 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.  Type II (adult onset) citrullinaemia: clinical pictures and the therapeutic effect of liver transplantation.

Authors:  S Ikeda; M Yazaki; Y Takei; T Ikegami; Y Hashikura; S Kawasaki; M Iwai; K Kobayashi; T Saheki
Journal:  J Neurol Neurosurg Psychiatry       Date:  2001-11       Impact factor: 10.154

5.  A search for the primary abnormality in adult-onset type II citrullinemia.

Authors:  K Kobayashi; N Shaheen; R Kumashiro; K Tanikawa; W E O'Brien; A L Beaudet; T Saheki
Journal:  Am J Hum Genet       Date:  1993-11       Impact factor: 11.025

6.  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

7.  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

8.  Parallel evolution of gene expression between trophic specialists despite divergent genotypes and morphologies.

Authors:  Joseph A McGirr; Christopher H Martin
Journal:  Evol Lett       Date:  2018-02-14

9.  Identification of Novel Mutations in Chinese Infants With Citrullinemia.

Authors:  Zhi Cheng; Xiwen He; Fa Zou; Zhen-E Xu; Chun Li; Hao Liu; Jingkun Miao
Journal:  Front Genet       Date:  2022-03-03       Impact factor: 4.599
  9 in total

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