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Volumn 20, Issue 5, 1997, Pages 633-642

Biochemical characterization of the S135L allele of galactose-1-phosphate uridylyltransferase associated with galactosaemia

Author keywords

[No Author keywords available]

Indexed keywords

GALACTOSE 1 PHOSPHATE URIDYLYLTRANSFERASE;

EID: 0030869976     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005314207513     Document Type: Article
Times cited : (25)

References (18)
  • 1
    • 0000814750 scopus 로고
    • Galactosemia: Symptomatic and asymptomatic homozygotes in one Negro sibship
    • Baker L, Mellman WJ, Tedesco TA, Segal S (1966) Galactosemia: symptomatic and asymptomatic homozygotes in one Negro sibship. J Pediatr 68: 551-558.
    • (1966) J Pediatr , vol.68 , pp. 551-558
    • Baker, L.1    Mellman, W.J.2    Tedesco, T.A.3    Segal, S.4
  • 3
    • 0028968325 scopus 로고
    • Galactosemia: A strategy to identify new biochemical phenotypes and molecular genotypes
    • Elsas LJ, Langley S, Steele E, et al (1995) Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes. Am J Hum Genet 56: 630-639.
    • (1995) Am J Hum Genet , vol.56 , pp. 630-639
    • Elsas, L.J.1    Langley, S.2    Steele, E.3
  • 4
    • 10544248591 scopus 로고    scopus 로고
    • The Q188R mutation in human galactose-1-phosphate uridylyltransferase acts as a partial dominant negative
    • Elsevier JP, Fridovich-Keil JL (1996) The Q188R mutation in human galactose-1-phosphate uridylyltransferase acts as a partial dominant negative. J Biol Chem 271: 32002-32007.
    • (1996) J Biol Chem , vol.271 , pp. 32002-32007
    • Elsevier, J.P.1    Fridovich-Keil, J.L.2
  • 5
    • 0029903942 scopus 로고    scopus 로고
    • Heterodimer formation and activity in the human enzyme galactose-1-phosphate uridylyltransferase
    • Elsevier JP, Wells L, Quimby BB, Fridovich-Keil JL(1996) Heterodimer formation and activity in the human enzyme galactose-1-phosphate uridylyltransferase. Proc Natl Acad Sci USA 93: 7166-7171.
    • (1996) Proc Natl Acad Sci USA , vol.93 , pp. 7166-7171
    • Elsevier, J.P.1    Wells, L.2    Quimby, B.B.3    Fridovich-Keil, J.L.4
  • 6
    • 0027398293 scopus 로고
    • A yeast expression system for human galactose-1-phosphate uridylyltransferase
    • Fridovich-Keil JL, Jinks-Robertson S (1993) A yeast expression system for human galactose-1-phosphate uridylyltransferase. Proc Natl Acad Sci USA 90: 398-402.
    • (1993) Proc Natl Acad Sci USA , vol.90 , pp. 398-402
    • Fridovich-Keil, J.L.1    Jinks-Robertson, S.2
  • 7
    • 0029586136 scopus 로고
    • Chacterization of the N314D allele of human galactose-1-phosphate uridylyltransferase using a yeast expression system
    • Fridovich-Keil JL, Quimby BB, Wells L, Mazur LA, Elsevier JP (1995a) Chacterization of the N314D allele of human galactose-1-phosphate uridylyltransferase using a yeast expression system. Biochem Mol Med 56: 121-130.
    • (1995) Biochem Mol Med , vol.56 , pp. 121-130
    • Fridovich-Keil, J.L.1    Quimby, B.B.2    Wells, L.3    Mazur, L.A.4    Elsevier, J.P.5
  • 8
    • 0028899506 scopus 로고
    • Identification and functional analysis of three distinct mutations in the human galactose-1-phosphate uridylyltransferase gene associated with galactosemia in a single family
    • Fridovich-Keil JL, Langley SD, Mazur LA, Lennon JC, Dembure PP, Elsas LJ (1995b) Identification and functional analysis of three distinct mutations in the human galactose-1-phosphate uridylyltransferase gene associated with galactosemia in a single family. Am J Hum Genet 56: 640-646.
    • (1995) Am J Hum Genet , vol.56 , pp. 640-646
    • Fridovich-Keil, J.L.1    Langley, S.D.2    Mazur, L.A.3    Lennon, J.C.4    Dembure, P.P.5    Elsas, L.J.6
  • 9
    • 0023645540 scopus 로고
    • Analysis of ping-pong reaction mechanisms by positional isotopic exchange
    • Hester LS, Raushel FM (1987) Analysis of ping-pong reaction mechanisms by positional isotopic exchange. J Biol Chem 262: 12092-12095.
    • (1987) J Biol Chem , vol.262 , pp. 12092-12095
    • Hester, L.S.1    Raushel, F.M.2
  • 11
    • 0017653572 scopus 로고
    • Human erythrocyte galactose-1-phosphate uridyltransferase: Evidence for a uridylyl-enzyme intermediate by kinetic and exchange reaction studies
    • Markus J, Wu J, Boches F, Tedesco T, Mellman W, Kallan R (1977) Human erythrocyte galactose-1-phosphate uridyltransferase: evidence for a uridylyl-enzyme intermediate by kinetic and exchange reaction studies. J Biol Chem 252: 5363-5369.
    • (1977) J Biol Chem , vol.252 , pp. 5363-5369
    • Markus, J.1    Wu, J.2    Boches, F.3    Tedesco, T.4    Mellman, W.5    Kallan, R.6
  • 14
    • 0029792602 scopus 로고    scopus 로고
    • Molecular characterization of Duarte-1 and Duarte-2 variants of galactose-1-phosphate uridyltransferase
    • Podskarbi T, Kohlmetz T, Gathof BS, et al (1996) Molecular characterization of Duarte-1 and Duarte-2 variants of galactose-1-phosphate uridyltransferase. J Inher Metab Dis 19: 638-644.
    • (1996) J Inher Metab Dis , vol.19 , pp. 638-644
    • Podskarbi, T.1    Kohlmetz, T.2    Gathof, B.S.3
  • 15
    • 10244235266 scopus 로고    scopus 로고
    • Functional requirements of the active site position 185 in the human enzyme galactose-1-phosphate uridylyltransferase
    • Quimby BB, Wells L, Wilkinson KD, Fridovich-Keil JL (1996) Functional requirements of the active site position 185 in the human enzyme galactose-1-phosphate uridylyltransferase. J Biol Chem 271: 26835-26842.
    • (1996) J Biol Chem , vol.271 , pp. 26835-26842
    • Quimby, B.B.1    Wells, L.2    Wilkinson, K.D.3    Fridovich-Keil, J.L.4
  • 16
    • 0026629066 scopus 로고
    • Molecular characterization of two galactosemia mutations and one polymorphism: Implications for structure-function analysis of human galactose-1-phosphate uridylyltransferase
    • Reichardt JKV, Levy HL, Woo SL (1992) Molecular characterization of two galactosemia mutations and one polymorphism: implications for structure-function analysis of human galactose-1-phosphate uridylyltransferase. Biochemistry B31: 5430-5433.
    • (1992) Biochemistry , vol.B31 , pp. 5430-5433
    • Reichardt, J.K.V.1    Levy, H.L.2    Woo, S.L.3
  • 18
    • 0029057216 scopus 로고
    • Galactose-1-phosphate uridylyltransferase from Escherichia coli, a zinc and iron metalloenzyme
    • Ruzicka FJ, Wedekind JE, Kim J, Rayment I, Frey PA (1995) Galactose-1-phosphate uridylyltransferase from Escherichia coli, a zinc and iron metalloenzyme. Biochemistry 34: 5610-5617.
    • (1995) Biochemistry , vol.34 , pp. 5610-5617
    • Ruzicka, F.J.1    Wedekind, J.E.2    Kim, J.3    Rayment, I.4    Frey, P.A.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.