메뉴 건너뛰기




Volumn 35, Issue 9, 2014, Pages 1060-1067

GALT protein database: Querying structural and functional features of GALT enzyme

Author keywords

Classic Galactosemia; Database; Galactose 1 phosphate uridylyltransferase; GALT; Molecular modelling; Structural analysis

Indexed keywords

ALANINE; ENZYME VARIANT; GALACTOSE 1 PHOSPHATE URIDYLYLTRANSFERASE; PROTEIN VARIANT; THREONINE;

EID: 84906056147     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22613     Document Type: Article
Times cited : (15)

References (37)
  • 1
    • 0023055760 scopus 로고
    • Galactose-1-phosphate uridylyltransferase. Purification of the enzyme and stereochemical course of each step of the double-displacement mechanism
    • Arabshahi A, Brody RS, Smallwood A, Tsai TC, Frey PA. 1986. Galactose-1-phosphate uridylyltransferase. Purification of the enzyme and stereochemical course of each step of the double-displacement mechanism. Biochemistry 25:5583-5589.
    • (1986) Biochemistry , vol.25 , pp. 5583-5589
    • Arabshahi, A.1    Brody, R.S.2    Smallwood, A.3    Tsai, T.C.4    Frey, P.A.5
  • 2
    • 79955703331 scopus 로고    scopus 로고
    • Introduction to the Maastricht workshop: lessons from the past and new directions in galactosemia
    • Berry GT, Elsas LJ. 2011. Introduction to the Maastricht workshop: lessons from the past and new directions in galactosemia. J Inherit Metab Dis 34:249-255.
    • (2011) J Inherit Metab Dis , vol.34 , pp. 249-255
    • Berry, G.T.1    Elsas, L.J.2
  • 3
    • 84867895538 scopus 로고    scopus 로고
    • Mutation spectrum in the French cohort of galactosemic patients and structural simulation of 27 novel missense variations
    • French Galactosemia Working Group.
    • Boutron A, Marabotti A, Facchiano A, Cheillan D, Zater M, Oliveira C, Costa C, Labrune P, Brivet M; French Galactosemia Working Group. 2012. Mutation spectrum in the French cohort of galactosemic patients and structural simulation of 27 novel missense variations. Mol Genet Metab 107:438-447.
    • (2012) Mol Genet Metab , vol.107 , pp. 438-447
    • Boutron, A.1    Marabotti, A.2    Facchiano, A.3    Cheillan, D.4    Zater, M.5    Oliveira, C.6    Costa, C.7    Labrune, P.8    Brivet, M.9
  • 4
    • 0037162392 scopus 로고    scopus 로고
    • Hint, Fhit, and GalT: function, structure, evolution, and mechanism of three branches of the histidine triad superfamily of nucleotide hydrolases and transferases
    • Brenner C. 2002. Hint, Fhit, and GalT: function, structure, evolution, and mechanism of three branches of the histidine triad superfamily of nucleotide hydrolases and transferases. Biochemistry 41:9003-9014.
    • (2002) Biochemistry , vol.41 , pp. 9003-9014
    • Brenner, C.1
  • 5
    • 34948901347 scopus 로고    scopus 로고
    • Mutation database for the galactose-1-phosphate uridyl-transferase (GALT) gene
    • Calderon FR, Phansalkar AR, Crockett DK, Miller M, Mao R. 2007. Mutation database for the galactose-1-phosphate uridyl-transferase (GALT) gene. Hum Mutat 28:939-943.
    • (2007) Hum Mutat , vol.28 , pp. 939-943
    • Calderon, F.R.1    Phansalkar, A.R.2    Crockett, D.K.3    Miller, M.4    Mao, R.5
  • 8
    • 67649666838 scopus 로고    scopus 로고
    • GALT protein database, a bioinformatics resource for the management and analysis of structural features of a galactosemia-related protein and its mutants
    • d'Acierno A, Facchiano A, Marabotti A. 2009. GALT protein database, a bioinformatics resource for the management and analysis of structural features of a galactosemia-related protein and its mutants. Genomics Proteomics Bioinformatics 7:71-76.
    • (2009) Genomics Proteomics Bioinformatics , vol.7 , pp. 71-76
    • d'Acierno, A.1    Facchiano, A.2    Marabotti, A.3
  • 9
    • 79955866957 scopus 로고    scopus 로고
    • PoPMuSiC 2.1: a web server for the estimation of protein stability changes upon mutation and sequence optimality
    • Dehouck Y, Kwasigroch JM, Gilis D, Rooman M. 2011. PoPMuSiC 2.1: a web server for the estimation of protein stability changes upon mutation and sequence optimality. BMC Bioinformatics 12:151.
    • (2011) BMC Bioinformatics , vol.12 , pp. 151
    • Dehouck, Y.1    Kwasigroch, J.M.2    Gilis, D.3    Rooman, M.4
  • 10
    • 0035717053 scopus 로고    scopus 로고
    • Functional analysis of the human galactose-1-phosphate uridyltransferase promoter in Duarte and LA variant galactosemia
    • Elsas LJ, Lai K, Saunders CJ, Langley SD. 2001. Functional analysis of the human galactose-1-phosphate uridyltransferase promoter in Duarte and LA variant galactosemia. Mol Genet Metab 72:297-305.
    • (2001) Mol Genet Metab , vol.72 , pp. 297-305
    • Elsas, L.J.1    Lai, K.2    Saunders, C.J.3    Langley, S.D.4
  • 11
    • 84906051159 scopus 로고    scopus 로고
    • Galactosemia
    • Seattle, WA: University of Washington.
    • TM. Seattle, WA: University of Washington.
    • (2010) TM
    • Elsas II, L.J.1
  • 12
    • 0032195337 scopus 로고    scopus 로고
    • The molecular biology of galactosemia
    • Elsas LJ, Lai K. 1998. The molecular biology of galactosemia. Genet Med 1:40-48.
    • (1998) Genet Med , vol.1 , pp. 40-48
    • Elsas, L.J.1    Lai, K.2
  • 13
    • 75649089285 scopus 로고    scopus 로고
    • Analysis of galactosemia-linked mutations of GALT enzyme using a computational biology approach
    • Facchiano A, Marabotti A. 2010. Analysis of galactosemia-linked mutations of GALT enzyme using a computational biology approach. Protein Eng Des Sel 23:103-113.
    • (2010) Protein Eng Des Sel , vol.23 , pp. 103-113
    • Facchiano, A.1    Marabotti, A.2
  • 14
    • 34548426131 scopus 로고    scopus 로고
    • Modeling mutations in protein structures
    • Feyfant E, Sali A, Fiser A. 2007. Modeling mutations in protein structures. Protein Sci 16:2030-2041.
    • (2007) Protein Sci , vol.16 , pp. 2030-2041
    • Feyfant, E.1    Sali, A.2    Fiser, A.3
  • 15
    • 0024963669 scopus 로고
    • Galactose-1-phosphate uridylyltransferase: identification of histidine-164 and histidine-166 as critical residues by site-directed mutagenesis
    • Field TL, Reznikoff WS, Frey PA. 1989. Galactose-1-phosphate uridylyltransferase: identification of histidine-164 and histidine-166 as critical residues by site-directed mutagenesis. Biochemistry 28:2094-2099.
    • (1989) Biochemistry , vol.28 , pp. 2094-2099
    • Field, T.L.1    Reznikoff, W.S.2    Frey, P.A.3
  • 16
    • 0029920614 scopus 로고    scopus 로고
    • The Leloir pathway: a mechanistic imperative for three enzymes to change the stereochemical configuration of a single carbon in galactose
    • Frey P. 1996. The Leloir pathway: a mechanistic imperative for three enzymes to change the stereochemical configuration of a single carbon in galactose. FASEB J 10:461-470.
    • (1996) FASEB J , vol.10 , pp. 461-470
    • Frey, P.1
  • 17
    • 0029586136 scopus 로고
    • Characterization of the N314D allele of human galactose-1-phosphate uridyltransferase using a yeast expression system
    • Fridovich-Keil JL, Quimby BB, Wells L, Mazur LA, Elsevier PJ. 1995. Characterization of the N314D allele of human galactose-1-phosphate uridyltransferase 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, P.J.5
  • 18
    • 64149098932 scopus 로고    scopus 로고
    • Galactosemia
    • Valle D, Beaudet A, Vogelstein B, Kinzler K, Antonarakis S, Ballabio A, editors. Ch. 72. New York: McGraw Hill.
    • Fridovich-Keil JL, Walter JH. 2008. Galactosemia. In: Valle D, Beaudet A, Vogelstein B, Kinzler K, Antonarakis S, Ballabio A, editors. The online metabolic and molecular bases of inherited disease. Ch. 72. New York: McGraw Hill. http://www.ommbid.com/.
    • (2008) The online metabolic and molecular bases of inherited disease
    • Fridovich-Keil, J.L.1    Walter, J.H.2
  • 19
    • 33746124556 scopus 로고    scopus 로고
    • Biomolecules in the computer: Jmol to the rescue
    • Herráez A. 2006. Biomolecules in the computer: Jmol to the rescue. Biochem Mol Biol Educ 34:255-261.
    • (2006) Biochem Mol Biol Educ , vol.34 , pp. 255-261
    • Herráez, A.1
  • 20
    • 80255126249 scopus 로고    scopus 로고
    • The effect of a Pro28Thr point mutation on the local structure and stability of human galactokinase enzyme-a theoretical study
    • Jójárt B, Szori M, Izsák R, Marsi I, László A, Csizmadia IG, Viskolcz B. 2011. The effect of a Pro28Thr point mutation on the local structure and stability of human galactokinase enzyme-a theoretical study. J Mol Model 17:2639-2649.
    • (2011) J Mol Model , vol.17 , pp. 2639-2649
    • Jójárt, B.1    Szori, M.2    Izsák, R.3    Marsi, I.4    László, A.5    Csizmadia, I.G.6    Viskolcz, B.7
  • 23
    • 0031600428 scopus 로고    scopus 로고
    • Duarte allele impairs biostability of galactose-1-phosphate uridyltransferase in human lymphoblasts
    • Lai K, Langley SD, Dembure PP, Hjelm LN, Elsas LJ. 1998. Duarte allele impairs biostability of galactose-1-phosphate uridyltransferase in human lymphoblasts. Hum Mut 11:28-38.
    • (1998) Hum Mut , vol.11 , pp. 28-38
    • Lai, K.1    Langley, S.D.2    Dembure, P.P.3    Hjelm, L.N.4    Elsas, L.J.5
  • 24
    • 0001328767 scopus 로고
    • The enzymatic transformation of uridine diphosphate glucose into a galactose derivative
    • Leloir LF. 1951. The enzymatic transformation of uridine diphosphate glucose into a galactose derivative. Arch Biochem Biophys 33:186-190.
    • (1951) Arch Biochem Biophys , vol.33 , pp. 186-190
    • Leloir, L.F.1
  • 25
    • 13444291908 scopus 로고    scopus 로고
    • Homology modeling studies on human galactose-1-phosphate uridylyltransferase and on its galactosemia-related mutant Q188R provide an explanation of molecular effects of the mutation on homo- and heterodimers
    • Marabotti A, Facchiano AM. 2005. Homology modeling studies on human galactose-1-phosphate uridylyltransferase and on its galactosemia-related mutant Q188R provide an explanation of molecular effects of the mutation on homo- and heterodimers. J Med Chem 48:773-779.
    • (2005) J Med Chem , vol.48 , pp. 773-779
    • Marabotti, A.1    Facchiano, A.M.2
  • 26
    • 84878655944 scopus 로고    scopus 로고
    • In silico prediction of the effects of mutations in the human UDP-galactose 4'-epimerase gene: towards a predictive framework for type III galactosemia
    • McCorvie TJ, Timson DJ. 2013. In silico prediction of the effects of mutations in the human UDP-galactose 4'-epimerase gene: towards a predictive framework for type III galactosemia. Gene 524:95-104.
    • (2013) Gene , vol.524 , pp. 95-104
    • McCorvie, T.J.1    Timson, D.J.2
  • 27
    • 84877322610 scopus 로고    scopus 로고
    • Misfolding of galactose 1-phosphate uridylyltransferase can result in type I galactosemia
    • McCorvie TJ, Gleason TJ, Fridovich-Keil JL, Timson DJ. 2013. Misfolding of galactose 1-phosphate uridylyltransferase can result in type I galactosemia. Biochim Biophys Acta 1832:1279-1293.
    • (2013) Biochim Biophys Acta , vol.1832 , pp. 1279-1293
    • McCorvie, T.J.1    Gleason, T.J.2    Fridovich-Keil, J.L.3    Timson, D.J.4
  • 29
    • 33747838537 scopus 로고    scopus 로고
    • CUPSAT: prediction of protein stability upon point mutations
    • Parthiban V, Gromiha MM, Schomburg D. 2006. CUPSAT: prediction of protein stability upon point mutations. Nucleic Acids Res 34(Web Server issue):W239-W242.
    • (2006) Nucleic Acids Res , vol.34 , Issue.WEB SERVER ISSUE
    • Parthiban, V.1    Gromiha, M.M.2    Schomburg, D.3
  • 30
    • 84867288967 scopus 로고    scopus 로고
    • Biochemical and molecular characterization of GALT gene from Indian galactosemia patients: identification of 10 novel mutations and their structural and functional implications
    • Singh R, Thapa BR, Kaur G, Prasad R. 2012. Biochemical and molecular characterization of GALT gene from Indian galactosemia patients: identification of 10 novel mutations and their structural and functional implications. Clin Chim Acta 414:191-196.
    • (2012) Clin Chim Acta , vol.414 , pp. 191-196
    • Singh, R.1    Thapa, B.R.2    Kaur, G.3    Prasad, R.4
  • 31
    • 84861886186 scopus 로고    scopus 로고
    • Correlation assessment among clinical phenotypes, expression analysis and molecular modeling of 14 novel variations in the human galactose-1-phosphate uridylyltransferase gene
    • Tang M, Facchiano A, Rachamadugu R, Calderon F, Mao R, Milanesi L, Marabotti A, Lai K. 2012. Correlation assessment among clinical phenotypes, expression analysis and molecular modeling of 14 novel variations in the human galactose-1-phosphate uridylyltransferase gene. Hum Mutat 33:1107-1115.
    • (2012) Hum Mutat , vol.33 , pp. 1107-1115
    • Tang, M.1    Facchiano, A.2    Rachamadugu, R.3    Calderon, F.4    Mao, R.5    Milanesi, L.6    Marabotti, A.7    Lai, K.8
  • 32
    • 84880735466 scopus 로고    scopus 로고
    • Comparison of dynamics of wildtype and V94M human UDP-galactose 4-epimerase-A computational perspective on severe epimerase-deficiency galactosemia
    • Timson DJ, Lindert S. 2013. Comparison of dynamics of wildtype and V94M human UDP-galactose 4-epimerase-A computational perspective on severe epimerase-deficiency galactosemia. Gene 526:318-324.
    • (2013) Gene , vol.526 , pp. 318-324
    • Timson, D.J.1    Lindert, S.2
  • 33
    • 0031019959 scopus 로고    scopus 로고
    • Structural analysis of the H166G site-directed mutant of galactose-1-phosphate uridylyltransferase complexed with either UDP-glucose or UDP-galactose: detailed description of the nucleotide sugar binding site
    • Thoden JB, Ruzicka FJ, Frey PA, Rayment I, Holden HM. 1997. Structural analysis of the H166G site-directed mutant of galactose-1-phosphate uridylyltransferase complexed with either UDP-glucose or UDP-galactose: detailed description of the nucleotide sugar binding site. Biochemistry 36:1212-1222.
    • (1997) Biochemistry , vol.36 , pp. 1212-1222
    • Thoden, J.B.1    Ruzicka, F.J.2    Frey, P.A.3    Rayment, I.4    Holden, H.M.5
  • 34
    • 0034908526 scopus 로고    scopus 로고
    • Galactosemia: deletion in the 5' upstream region of the GALT gene reduces promoter efficiency
    • Trbusek M, Francová H, Kozák L. 2001. Galactosemia: deletion in the 5' upstream region of the GALT gene reduces promoter efficiency. Hum Genet 109:117-120.
    • (2001) Hum Genet , vol.109 , pp. 117-120
    • Trbusek, M.1    Francová, H.2    Kozák, L.3
  • 35
    • 0034435252 scopus 로고    scopus 로고
    • Galactosaemia and allelic variation at the galactose-1-phosphate uridyltransferase gene: a complex relationship between genotype and phenotype
    • Tyfield LA. 2000. Galactosaemia and allelic variation at the galactose-1-phosphate uridyltransferase gene: a complex relationship between genotype and phenotype. Eur J Pediatr 159(Suppl 3):S204-S207.
    • (2000) Eur J Pediatr , vol.159 , Issue.SUPPL. 3
    • Tyfield, L.A.1
  • 36
    • 0029113143 scopus 로고
    • Three-dimensional structure of galactose-1-phosphate uridylyltransferase from Escherichia coli at 1.8 Å resolution
    • Wedekind JE, Frey PA, Rayment I. 1995. Three-dimensional structure of galactose-1-phosphate uridylyltransferase from Escherichia coli at 1.8 Å resolution. Biochemistry 34:11049-11061.
    • (1995) Biochemistry , vol.34 , pp. 11049-11061
    • Wedekind, J.E.1    Frey, P.A.2    Rayment, I.3
  • 37
    • 0029810819 scopus 로고    scopus 로고
    • The structure of nucleotidylated histidine-166 of galactose-1-phosphate uridylyltransferase provides insight into phosphoryl group transfer
    • Wedekind JE, Frey PA, Rayment I. 1996. The structure of nucleotidylated histidine-166 of galactose-1-phosphate uridylyltransferase provides insight into phosphoryl group transfer. Biochemistry 35:11560-11569.
    • (1996) Biochemistry , vol.35 , pp. 11560-11569
    • Wedekind, J.E.1    Frey, P.A.2    Rayment, I.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.