Identification of the α-aminoadipic semialdehyde synthase which is defective in familial hyperlysinemia

American Journal of Human Genetics

Volumn 66, Issue 6, 2000, Pages 1736-1743

  Sacksteder, Katherine A ^a   Biery, Barbara J ^a   Morrell, James C ^a   Goodman, Barbara K ^a   Geisbrecht, Brian V ^a   Cox, Rody P ^b   Gould, Stephen J ^a   Geraghty, Michael T ^a  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

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

Author keywords

[No Author keywords available]

Indexed keywords

LYSINE;

ARTICLE; CATALYSIS; CHROMOSOMAL LOCALIZATION; CHROMOSOME 7Q; CLINICAL FEATURE; CONSANGUINITY; FAMILIAL DISEASE; GENE; GENE SEQUENCE; GENE STRUCTURE; GENETIC ANALYSIS; HUMAN; HYPERLYSINEMIA; OPEN READING FRAME; PRIORITY JOURNAL;

EID: 0033941102     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302919     Document Type: Article

References (15)

1. Bhattacharjee JK (1985) Alpha-aminoadipate pathway for the biosynthesis of lysine in lower eukaryotes. Crit Rev Microbiol 12:131-151
2. Chang YF (1978) Lysine metabolism in rat brain: the pipecolic acid-forming pathway. J Neurochem 30:347-354
3. Cox RP, Dancis J (1995) Errors of lysine metabolism. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease. McGraw-Hill, New York, pp 1233-1238
4. Dancis J, Hutzler J, Cox RP, Woody NC (1969) Familial hyperlysinemia with lysine-ketoglutarate reductase insufficiency. J Clin Invest 48:1447-1452
5. Dancis J, Hutzler J, Woody NC, Cox RP (1976) Multiple enzyme defects in familial hyperlysinemia. Pediatr Res 10: 686-691
6. Epelbaum S, McDevitt R, Falco SC (1997) Lysine-ketoglutarate reductase and saccharopine dehydrogenase from Arabidopsis thaliana: nucleotide sequence and characterization. Plant Mol Biol 35:735-748
7. Geraghty MT, Bassett D, Morrell JC, Gatto GJ, Bai J, Geisbrecht BV, Hieter P, et al (1999) Detecting patterns of protein distribution and gene expression in silico. Proc Natl Acad Sci USA 96:2937-2942
8. Giacobini E, Nomura Y, Schmidt-Glenewinkel T (1980) Pipecolic acid: origin, biosynthesis and metabolism in brain. Cell Mol Biol 26:135-146
9. Gould SJ, Keller G-A, Subramani S (1988) Identification of peroxisomal targeting signals at the carboxy-terminus of four peroxisomal proteins. J Cell Biol 107:897-905
10. Markovitz PJ, Chuang DT (1987) The bifunctional aminoadipic semialdehyde synthase in lysine degradation: separation of reductase and dehydrogenase domains by limited proteolysis and column chromatography. J Biol Chem 262: 9353-9358
11. Markovitz PJ, Chuang DT, Cox RP (1984) Familial hyperlysinemias: purification and characterization of the bifunctional aminoadipic semialdehyde synthase with lysine-ketoglutarate reductase and saccharopine dehydrogenase activities. J Biol Chem 259:11643-11646
12. Ozalp I, Hasanoglu A, Tuncbilek E, Yalaz K (1981) Hyperlysinemia without clinical findings. Acta Paediatr Scand 70: 951-953
13. Pragobpol S, Gero AM, Lee CS, O'Sullivan WJ (1984) Orotate phosphoribosyltransferase and oritidylate decarboxylase from Crithidia luciliae: subcellular location of the enzymes and a study of substrate channeling. Arch Biochem Biophys 230:285-293
14. Siguroardóttir S, Goodman BK, Rutberg J, Thomas GH, Jabs EW, Geraghty MT (1999) Clinical, cytogenetic, and fluorescence in situ hybridization findings in two cases of "complete ring" syndrome. Am J Med Genet 87:384-390
15. Woody NC (1964) Hyperlysinemia. Am J Dis Child 108:543