Identification of a familial mutation associated with GABA-transaminase deficiency disease

Neurobiology of Disease

Volumn 5, Issue 2, 1998, Pages 89-96

  Medina Kauwe, Lali K ^a,f   Nyhan, W L ^c   Gibson, K M ^d,e,g   Tobin, A J ^a,b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

^d BAYLOR UNIVERSITY MEDICAL CENTER   (United States)

^e UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^f UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^g OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

4 AMINOBUTYRATE AMINOTRANSFERASE; 4 AMINOBUTYRIC ACID; COMPLEMENTARY DNA; HYBRID PROTEIN;

AMINO ACID SEQUENCE; ANIMAL CELL; ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; ENZYME ACTIVITY; ENZYME DEFICIENCY; FAMILIAL DISEASE; GENE MUTATION; GENETIC DISORDER; HUMAN; HUMAN CELL; LYMPHOBLAST; MISSENSE MUTATION; NEUROLOGIC DISEASE; NEUROTRANSMISSION; NONHUMAN; PRIORITY JOURNAL; RAT; SEIZURE;

EID: 0031710519     PISSN: 09699961     EISSN: None     Source Type: Journal    
DOI: 10.1006/nbdi.1998.0184     Document Type: Article

References (19)

1. Andre, B., & Jauniaux, J. C. (1990) Nucleotide sequence of the yeast UGA1 gene encoding GABA transaminase. Nucleic Acids Res. 18, 3049.
2. Arnone, A., Rogers, P. H., Hyde, C. C., Briley, P. D., Metzler, C. M., & Metzler, D. E. (1985) In: Transaminases (P. Christen & D. Metzler, Eds.), pp. 138-155. Wiley, New York.
3. Bartsch, K., Dichmann, R., Schmitt, P., Uhlmann, E., & Schulz, A. (1990) Stereospecific production of the herbicide phosphinothricin (Glufosinate) by transamination: Cloning, characterization, and overexpression of the gene encoding a phosphinothricin-specific transaminase from Escherichia coli. Appl. Environ. Microbiol 56, 7-12.
4. Churchich, J. E., & Moses, U. (1981) 4-Aminobutyrate aminotransferase: The presence of nonequivalent binding sites. J. Biol. Chem. 256, 1101-1104.
5. Chomczynski, P., & Sacchi, N. (1987) Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal. Biochem. 162, 156-159.
6. De Biase, D., Maras, B., Bossa, F., Barra, D., & John, R. A. (1992) Protein structure of pig liver 4-aminobutyrate aminotransferase and comparison with a cDNA-deduced sequence. Eur. J. Biochem. 208, 351-357.
7. Feinberg, A., & Vogelstein, B. (1983) A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity. Anal. Biochem. 132, 6-13.
8. Gibson, K. M., Sweetman, L., Nyhan, W. L., & Jansen, I. (1985) Demonstration of 4-aminobutyric acid aminotransferase deficiency in lymphocytes and lymphoblasts. J. Inher. Metab. Dis. 8, 204-208.
9. Jansonius, J. N., Eichele, G., Ford, G. C., Picot, D., Thaller, C., & Vincent, M. G. (1985) In: Transaminases (P. Christen & D. Metzler, Eds.), pp. 110-137. Wiley, New York.
10. Jaeken, J., Casaer, P., De Cock, P., Corbeel, L., Eechels, R., Eggermont, E., Schechter, P. J., & Brucher, J.-M. (1984) Gamma-aminobutyric acid-transaminase deficiency: A newly recognized inborn error of neurotransmitter metabolism. Neropediatrics 15, 165-169.
11. Kwon, O.-S., Park, J., & Churchich, J. E. (1992) Brain 4-aminobutyrate aminotransferase: Isolation and sequence of a cDNA encoding the enzyme. J. Biol. Chem. 267, 7215-7216.
12. Medina-Kauwe, L. K., Tillakaratne, N., Wu, J.-Y, & Tobin, A. J. (1994) A rat brain cDNA encodes enzymatically active GABA transaminase and provides a molecular probe for GABA-catabolizing cells. J. Neurochem. 62, 1267-1275.
13. Medina-Kauwe L. K., Nyhan, W. L. Gibson, K. M., & Tobin, A. J. (1995) Missense mutations in human GABA transaminase. Soc. Neurosci. Abstr. 21, 734.
14. Osei, Y D., & Churchich, J. E. (1995) Screening and sequence determination of a cDNA encoding the human brain 4-aminobutyrate aminotransferase. Gene 155, 185-187.
15. Richardson, I. B., Hurley, S. K., & Hynes, M. J. (1989) Cloning and molecular characterisation of the amdR controlled gatA gene of Aspergillus nidulans. Mol. Gen. Genet. 217, 118-125.
16. Sanger, F., Nicklen, S., & Coulson, A. R. (1977) DNA sequencing with chain terminating inhibitors. Proc. Natl. Acad. Sci. USA 74, 5463-5467.
17. Schousboe, A., Wu, J.-Y., & Roberts, E. (1973) Purification and characterization of the 4-aminobutyrate-2-ketoglutarate transaminase from mouse brain. Biochemistry 12, 2868-2873.
18. Tillakaratne, N. J. K., Medina-Kauwe, L. K., & Gibson, K. M. (1995) Gamma-aminobutyric acid (GABA) metabolism in mammalian neural and nonneural tissues. Comp. Biochem. Physiol. A Physiol. 112, 247-263.
19. Tunnicliff, G. (1980) Essential arginine residues at the pyridoxal binding site of brain γ-aminobutyrate aminotransferase. Biochem. Biophys. Res. Commun. 97, 160-165.