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Gene Review

ASS1  -  argininosuccinate synthase 1

Homo sapiens

Synonyms: ASS, Argininosuccinate synthase, CTLN1, Citrulline--aspartate ligase
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Biological context of ASS1


Anatomical context of ASS1


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Enzymatic interactions of ASS1


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Analytical, diagnostic and therapeutic context of ASS1


  1. Mutations in argininosuccinate synthetase mRNA of Japanese patients, causing classical citrullinemia. Kobayashi, K., Shaheen, N., Terazono, H., Saheki, T. Am. J. Hum. Genet. (1994) [Pubmed]
  2. Pegylated arginine deiminase (ADI-SS PEG20,000 mw) inhibits human melanomas and hepatocellular carcinomas in vitro and in vivo. Ensor, C.M., Holtsberg, F.W., Bomalaski, J.S., Clark, M.A. Cancer Res. (2002) [Pubmed]
  3. Effect of chronic renal failure on arginase and argininosuccinate synthetase expression. Moradi, H., Kwok, V., Vaziri, N.D. American journal of nephrology. (2006) [Pubmed]
  4. Diagnosis and monitoring of inborn errors of metabolism using urease-pretreatment of urine, isotope dilution, and gas chromatography-mass spectrometry. Kuhara, T. J. Chromatogr. B Analyt. Technol. Biomed. Life Sci. (2002) [Pubmed]
  5. Metabolic derangements in deficiency of citrin, a liver-type mitochondrial aspartate-glutamate carrier. Saheki, T., Kobayashi, K., Iijima, M., Moriyama, M., Yazaki, M., Takei, Y., Ikeda, S. Hepatol. Res. (2005) [Pubmed]
  6. Inducible nitric oxide synthase and argininosuccinate synthetase: co-induction in brain tissue of patients with Alzheimer's dementia and following stimulation with beta-amyloid 1-42 in vitro. Haas, J., Storch-Hagenlocher, B., Biessmann, A., Wildemann, B. Neurosci. Lett. (2002) [Pubmed]
  7. The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein. Kobayashi, K., Sinasac, D.S., Iijima, M., Boright, A.P., Begum, L., Lee, J.R., Yasuda, T., Ikeda, S., Hirano, R., Terazono, H., Crackower, M.A., Kondo, I., Tsui, L.C., Scherer, S.W., Saheki, T. Nat. Genet. (1999) [Pubmed]
  8. Dispersion of argininosuccinate-synthetase-like human genes to multiple autosomes and the X chromosome. Beaudet, A.L., Su, T.S., O'Brien, W.E., D'Eustachio, P., Barker, P.E., Ruddle, F.H. Cell (1982) [Pubmed]
  9. Arginine, an indispensable amino acid for patients with inborn errors of urea synthesis. Brusilow, S.W. J. Clin. Invest. (1984) [Pubmed]
  10. Molecular analysis of argininosuccinate synthetase deficiency in human fibroblasts. Su, T.S., Bock, H.G., Beaudet, A.L., O'Brien, W.E. J. Clin. Invest. (1982) [Pubmed]
  11. Structure of the human argininosuccinate synthetase gene and an improved system for molecular diagnostics in patients with classical and mild citrullinemia. Häberle, J., Pauli, S., Linnebank, M., Kleijer, W.J., Bakker, H.D., Wanders, R.J., Harms, E., Koch, H.G. Hum. Genet. (2002) [Pubmed]
  12. Additional mutations in argininosuccinate synthetase causing citrullinemia. Kobayashi, K., Rosenbloom, C., Beaudet, A.L., O'Brien, W.E. Mol. Biol. Med. (1991) [Pubmed]
  13. Increased urinary excretion of argininosuccinate in type II citrullinemia. Saheki, T., Kobayashi, K., Inoue, I., Matuo, S., Hagihara, S., Noda, T. Clin. Chim. Acta (1987) [Pubmed]
  14. Toxoplasma gondii lacks the enzymes required for de novo arginine biosynthesis and arginine starvation triggers cyst formation. Fox, B.A., Gigley, J.P., Bzik, D.J. Int. J. Parasitol. (2004) [Pubmed]
  15. Detection of kinetically abnormal argininosuccinate synthase in neonatal citrullinemia by conversion of citrulline to arginine in intact fibroblasts. Ben-Yoseph, Y., Mitchell, D.A. Clin. Chim. Acta (1989) [Pubmed]
  16. Molecular structure of the human argininosuccinate synthetase gene: occurrence of alternative mRNA splicing. Freytag, S.O., Beaudet, A.L., Bock, H.G., O'Brien, W.E. Mol. Cell. Biol. (1984) [Pubmed]
  17. Molecular structures of human argininosuccinate synthetase pseudogenes. Evolutionary and mechanistic implications. Freytag, S.O., Bock, H.G., Beaudet, A.L., O'Brien, W.E. J. Biol. Chem. (1984) [Pubmed]
  18. Glutamine stimulates argininosuccinate synthetase gene expression through cytosolic O-glycosylation of Sp1 in Caco-2 cells. Brasse-Lagnel, C., Fairand, A., Lavoinne, A., Husson, A. J. Biol. Chem. (2003) [Pubmed]
  19. Argininosuccinate synthetase overexpression in vascular smooth muscle cells potentiates immunostimulant-induced NO production. Xie, L., Gross, S.S. J. Biol. Chem. (1997) [Pubmed]
  20. Chromosome assignment of a human gene for argininosuccinate synthetase expression in Chinese hamsterxhuman somatic cell hybrids. Carritt, B., Goldfarb, P.S., Hooper, M.L., Slack, C. Exp. Cell Res. (1977) [Pubmed]
  21. Pegylated Recombinant Human Arginase (rhArg-peg5,000mw) Inhibits the In vitro and In vivo Proliferation of Human Hepatocellular Carcinoma through Arginine Depletion. Cheng, P.N., Lam, T.L., Lam, W.M., Tsui, S.M., Cheng, A.W., Lo, W.H., Leung, Y.C. Cancer Res. (2007) [Pubmed]
  22. Characterization of human wild-type and mutant argininosuccinate synthetase proteins expressed in bacterial cells. Shaheen, N., Kobayashi, K., Terazono, H., Fukushige, T., Horiuchi, M., Saheki, T. Enzyme Protein (1994) [Pubmed]
  23. Identification of essential arginine residue(s) for Mg-ATP binding of human argininosuccinate synthetase. Isashiki, Y., Noda, T., Kobayashi, K., Sase, M., Saheki, T., Titani, K. Protein Seq. Data Anal. (1989) [Pubmed]
  24. Dystonia gene in Ashkenazi Jewish population is located on chromosome 9q32-34. Kramer, P.L., de Leon, D., Ozelius, L., Risch, N., Bressman, S.B., Brin, M.F., Schuback, D.E., Burke, R.E., Kwiatkowski, D.J., Shale, H. Ann. Neurol. (1990) [Pubmed]
  25. Elevated argininosuccinate synthetase activity in adult T leukemia cell lines. Sugimura, K., Kimura, T., Arakawa, H., Ohno, T., Wada, Y., Kimura, Y., Saheki, T., Azuma, I. Leuk. Res. (1990) [Pubmed]
  26. Type II (adult onset) citrullinaemia: clinical pictures and the therapeutic effect of liver transplantation. Ikeda, S., Yazaki, M., Takei, Y., Ikegami, T., Hashikura, Y., Kawasaki, S., Iwai, M., Kobayashi, K., Saheki, T. J. Neurol. Neurosurg. Psychiatr. (2001) [Pubmed]
  27. In vivo urea cycle flux distinguishes and correlates with phenotypic severity in disorders of the urea cycle. Lee, B., Yu, H., Jahoor, F., O'Brien, W., Beaudet, A.L., Reeds, P. Proc. Natl. Acad. Sci. U.S.A. (2000) [Pubmed]
  28. Renal argininosuccinate synthetase: purification, immunohistochemical localization, and elastin-binding property. Wakui, H., Komatsuda, A., Itoh, H., Kobayashi, R., Nakamoto, Y., Miura, A.B. Renal physiology and biochemistry. (1992) [Pubmed]
  29. Effects of SV40 transformation on intercellular gap junctional communication in human fibroblasts. Rosen, A., van der Merwe, P.A., Davidson, J.S. Cancer Res. (1988) [Pubmed]
  30. Studies on complementation in argininosuccinate synthetase and argininosuccinate lyase deficiencies in human fibroblasts. Cathelineau, L., Pham Dinh, D., Briand, P., Kamoun, P. Hum. Genet. (1981) [Pubmed]
  31. Variation in argininosuccinate synthetase activity in amniotic fluid cell cultures: implications for prenatal diagnosis of citrullinemia. Jacoby, L.B., Shih, V.E., Struckmeyer, C., Niermeijer, M.F., Boué, J. Clin. Chim. Acta (1981) [Pubmed]
  32. Citrulline can preserve proliferation and prevent the loss of CD3 zeta chain under conditions of low arginine. Bansal, V., Rodriguez, P., Wu, G., Eichler, D.C., Zabaleta, J., Taheri, F., Ochoa, J.B. JPEN. Journal of parenteral and enteral nutrition. (2004) [Pubmed]
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