Identification of novel mutations of the human N-acetylglutamate synthase gene and their functional investigation by expression studies

Biochimica et Biophysica Acta - Molecular Basis of Disease

Volumn 1740, Issue 1, 2005, Pages 54-59

  Schmidt, Eva ^a   Nuoffer, Jean Marc ^b   Häberle, Johannes ^a   Pauli, Silke ^a   Guffon, Nathalie ^c   Vianey Saban, Christine ^c   Wermuth, Bendicht ^b   Koch, Hans Georg ^a  

^a UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^b UNIVERSITY OF BERN   (Switzerland)

^c EDOUARD HERRIOT HOSPITAL   (France)

Author keywords

Hyperammonemia; NAGS; NAGS deficiency

Indexed keywords

ARGININE; CORE PROTEIN; GLUTAMATE ACETYLTRANSFERASE; MUTANT PROTEIN;

ARTICLE; BACTERIAL STRAIN; ENZYME ACTIVITY; ENZYME DEFICIENCY; ESCHERICHIA COLI; FAMILY; GENE EXPRESSION; GENE EXPRESSION SYSTEM; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; MISSENSE MUTATION; MITOCHONDRION; NEWBORN; PRIORITY JOURNAL; PROTEIN EXPRESSION; STIMULATION; WILD TYPE;

ACETYLTRANSFERASES; AMINO-ACID N-ACETYLTRANSFERASE; ARGININE; DNA MUTATIONAL ANALYSIS; ENZYME ACTIVATION; ESCHERICHIA COLI; HUMANS; HYPERAMMONEMIA; MITOCHONDRIAL PROTEINS; MUTATION, MISSENSE; PROTEIN SORTING SIGNALS;

BACTERIA (MICROORGANISMS);

EID: 18844453488     PISSN: 09254439     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bbadis.2005.02.006     Document Type: Article

References (14)

1. A. Adadjieva, K. Pauwels, P. Hilven, and M. Crabeel A new yeast metabolon involving at least the two first enzymes of arginine biosynthesis: acetylglutamate synthase activity requires complex formation with acetylglutamate kinase J. Biol. Chem. 276 46 2001 (Nov 16) 42869 42880
2. L. Caldovic, H. Morizono, M. Gracia Panglao, R. Galegos, X. Yu, D. Shi, M.H. Malamy, N.M. Allewell, and M. Tuchman Cloning and expression of the human N-acetylglutamate synthase gene Biochem. Biophys. Res. Comm. 299 2002 581 586
3. J. Häberle, E. Schmidt, S. Pauli, J.G. Kreuder, B. Plecko, A. Galler, B. Wermuth, E. Harms, and H.G. Koch Mutation analysis in patients with N-acetylglutamate synthase deficiency Hum. Mutat. 21 2003 593 597
4. C. Bachmann, S. Krähenbühl, J.P. Colombo, G. Schubiger, K.H. Jaggi, and O. Tönz N-acetylglutamate synthetase deficiency: a disorder of ammonia detoxification N. Engl. J. Med. 304 1981 543
5. J.P. Colombo N-acetylglutamate synthetase (NAGS) deficiency Adv. Exp. Med. Biol. 368 1994 135 143
6. J.P. Colombo N-acetylglutamate deficiency: clinical and biochemical features Int. Pediatr. 10 1995 109 113
7. A.J. Meijer, C. Lof, I.C. Ramos, and A.J. Verhoeven Control of ureogenesis Eur. J. Biochem. 148 1985 189 196
8. K. Shigesada, and M. Tatibana N-acetylglutamate synthetase from rat-liver mitochondria. Partial purification and catalytic properties Eur. J. Biochem. 84 1978 285 291
9. O. Elpeleg, A. Shaag, E. Ben-Shalom, T. Schmid, and C. Bachmann N-acetylglutamate synthase deficiency and the treatment of hyperammonemic encephalopathy Ann. Neurol. 52 2002 845 849
10. H. Morizono, L. Caldovic, D. Shi, and M. Tuchman Mammalian N-acetylglutamate synthase Mol. Genet. Metab. 81 2004 4 11
11. L. Caldovic, H. Morizono, M.G. Panglao, S.F. Cheng, S. Packman, and M. Tuchman Null mutations in the N-acetylglutamate synthase gene associated with acute neonatal disease and hyperammonemia Hum. Genet. 112 2003 364 368
12. M. Tuchman, and R.A. Holzknecht Human hepatic N-acetylglutamate content and N-acetylglutamate synthase activity. Determination by stable isotope dilution Biochem. J. 271 2 1990 (Oct 15) 325 329
13. N. Guffon, C. Vianey-Saban, D. Rabier, J.P. Colombo, and P. Guibaud A new neonatal case of N-acetylglutamate synthase deficiency treated by carbamylglutamate J. Inherit. Metab. Dis. 20 1995 839 840
14. L. Caldovic, H. Morizono, X. Yu, M. Thompson, D. Shi, R. Gallegos, N.M. Allewell, M.H. Malamy, and M. Tuchman Identification, cloning and expression of the mouse N-acetylglutamate synthase gene Biochem. J. 364 2002 825 831