-
1
-
-
0029920614
-
The Leloir pathway: A mechanistic imperative for three enzymes to change the sterochemical configuration of a single carbon in galactose
-
P.A. Frey, The Leloir pathway: a mechanistic imperative for three enzymes to change the sterochemical configuration of a single carbon in galactose, FASEB 10 (1996) 461-470.
-
(1996)
FASEB
, vol.10
, pp. 461-470
-
-
Frey, P.A.1
-
2
-
-
0002636585
-
-
C.R. Scriver, A.L. Beaudet, S.W. Sly, D. Valle, B. Childs, K.W. Kinzler, B. Vogelstein (Eds.), McGraw Hill, New York
-
J.B. Holton, J.H. Walter, L.A. Tyfield, in: C.R. Scriver, A.L. Beaudet, S.W. Sly, D. Valle, B. Childs, K.W. Kinzler, B. Vogelstein (Eds.), Metabolic and Molecular Bases of Inherited Disease, eighth ed., McGraw Hill, New York, 2000, pp. 1553-1587.
-
(2000)
Metabolic and Molecular Bases of Inherited Disease, Eighth Ed.
, pp. 1553-1587
-
-
Holton, J.B.1
Walter, J.H.2
Tyfield, L.A.3
-
3
-
-
0025648036
-
Long-term prognosis in galactosemia: Results of a survey of 350 cases
-
D.D. Waggoner, N.R.M. Buist, G.N. Donnell, Long-term prognosis in galactosemia: results of a survey of 350 cases, J. Inherit. Metab. Dis. 13 (1990) 802-818.
-
(1990)
J. Inherit. Metab. Dis.
, vol.13
, pp. 802-818
-
-
Waggoner, D.D.1
Buist, N.R.M.2
Donnell, G.N.3
-
4
-
-
0032973185
-
Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene
-
L. Tyfield, J. Reichardt, J. Fridovich-Keil, D.T. Croke, L.J. Elsas, W. Strobl, L. Kozak, T. Coskun, G. Novelli, Y. Okano, C. Zekanowski, Y. Shion, M.D. Boleda, Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene, Hum. Mutat. 13 (1999) 417-430.
-
(1999)
Hum. Mutat.
, vol.13
, pp. 417-430
-
-
Tyfield, L.1
Reichardt, J.2
Fridovich-Keil, J.3
Croke, D.T.4
Elsas, L.J.5
Strobl, W.6
Kozak, L.7
Coskun, T.8
Novelli, G.9
Okano, Y.10
Zekanowski, C.11
Shion, Y.12
Boleda, M.D.13
-
5
-
-
0035815717
-
Relationship between genotype, activity, and galactose sensitivity in yeast expressing patient alleles of human galactose-1-phosphate uridylyltransferase
-
K. Riehman, C. Crews, J.L. Fridovich-Keil, Relationship between genotype, activity, and galactose sensitivity in yeast expressing patient alleles of human galactose-1-phosphate uridylyltransferase, J. Biol. Chem. 276 (2001) 10634-10640.
-
(2001)
J. Biol. Chem.
, vol.276
, pp. 10634-10640
-
-
Riehman, K.1
Crews, C.2
Fridovich-Keil, J.L.3
-
6
-
-
0032051489
-
Molecular and biochemical basis of galactosemia
-
B.B.T. Wang, Y.-K. Xu, W.G. Ng, L.-J.C. Wong, Molecular and biochemical basis of galactosemia, Mol. Genet. Metab. 63 (1998) 263-269.
-
(1998)
Mol. Genet. Metab.
, vol.63
, pp. 263-269
-
-
Wang, B.B.T.1
Xu, Y.-K.2
Ng, W.G.3
Wong, L.-J.C.4
-
8
-
-
0029113143
-
Three-dimensional structure of galactose-1-phosphate uridylyltransferase from Escherichia coli at 1.8 Å resolution
-
J.E. Wedekind, P.A. Frey, I. Rayment, Three-dimensional structure of galactose-1-phosphate uridylyltransferase from Escherichia coli at 1.8 Å resolution, Biochemistry 34 (1995) 11049-11061.
-
(1995)
Biochemistry
, vol.34
, pp. 11049-11061
-
-
Wedekind, J.E.1
Frey, P.A.2
Rayment, I.3
-
9
-
-
0029903942
-
Heterodimer formation and activity in the human enzyme galactose-1-phosphate uridylyltransferase
-
J.P. Elsevier, L. Wells, B.B. Quimby, J.L. Fridovich-Keil, Heterodimer formation and activity in the human enzyme galactose-1-phosphate uridylyltransferase, Proc. Natl. Acad. Sci. USA 93 (1996) 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
-
10
-
-
0014857037
-
Interallelic complementation in hybrid cells derived from human diploid strains deficient in galactose-1-phosphate uridyl transferase activity
-
H. Nadler, C. Chacko, M. Rachmeler, Interallelic complementation in hybrid cells derived from human diploid strains deficient in galactose-1-phosphate uridyl transferase activity, Proc. Natl. Acad. Sci. USA 67 (1970) 976-982.
-
(1970)
Proc. Natl. Acad. Sci. USA
, vol.67
, pp. 976-982
-
-
Nadler, H.1
Chacko, C.2
Rachmeler, M.3
-
11
-
-
10544248591
-
The Q188R mutation in human galactose-1-phosphate uridylyltransferase acts as a partial dominant negative
-
J.P. Elsevier, J.L. Fridovich-Keil, The Q188R mutation in human galactose-1-phosphate uridylyltransferase acts as a partial dominant negative, J. Biol. Chem. 271 (1996) 32002-32007.
-
(1996)
J. Biol. Chem.
, vol.271
, pp. 32002-32007
-
-
Elsevier, J.P.1
Fridovich-Keil, J.L.2
-
12
-
-
0034725702
-
Functional consequence of substitutions at residue 171 in human galactose-1-P uridylyltransferase
-
C. Crews, K.D. Wilkinson, L. Wells, C. Perkins, J.L. Fridovich-Keil, Functional consequence of substitutions at residue 171 in human galactose-1-P uridylyltransferase, J. Biol. Chem. 275 (2000) 22847-22853.
-
(2000)
J. Biol. Chem.
, vol.275
, pp. 22847-22853
-
-
Crews, C.1
Wilkinson, K.D.2
Wells, L.3
Perkins, C.4
Fridovich-Keil, J.L.5
-
13
-
-
0031019959
-
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
-
J. Thoden, F. Ruzicka, P. Frey, I. Rayment, H. Holden, 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 (1997) 1212-1222.
-
(1997)
Biochemistry
, vol.36
, pp. 1212-1222
-
-
Thoden, J.1
Ruzicka, F.2
Frey, P.3
Rayment, I.4
Holden, H.5
-
14
-
-
0004136246
-
-
Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY
-
J. Sambrook, E.F. Fritsch, T. Maniatis, Molecular cloning: a laboratory manual, second ed., Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY, 1989.
-
(1989)
Molecular Cloning: A Laboratory Manual, Second Ed.
-
-
Sambrook, J.1
Fritsch, E.F.2
Maniatis, T.3
-
15
-
-
0023392267
-
A method for gene disruption that allows repeated use of URA3 selection in the construction of multiply disrupted yeast strains
-
E. Alani, L. Cao, N. Kleckner, A method for gene disruption that allows repeated use of URA3 selection in the construction of multiply disrupted yeast strains, Genetics 116 (1987) 541-545.
-
(1987)
Genetics
, vol.116
, pp. 541-545
-
-
Alani, E.1
Cao, L.2
Kleckner, N.3
-
16
-
-
0023481280
-
A ten-minute DNA preparation from yeast efficiently releases autonomous plasmids for transformation of Escherichia coli
-
C.S. Hoffman, F. Winston, A ten-minute DNA preparation from yeast efficiently releases autonomous plasmids for transformation of Escherichia coli, Gene 57 (1987) 267-272.
-
(1987)
Gene
, vol.57
, pp. 267-272
-
-
Hoffman, C.S.1
Winston, F.2
-
17
-
-
0034730499
-
Covalent heterogeneity of the human enzyme galactose-1-phosphate uridylyltransferase
-
J.M. Henderson, L. Wells, J.L. Fridovich-Keil, Covalent heterogeneity of the human enzyme galactose-1-phosphate uridylyltransferase, J. Biol. Chem. 275 (2000) 30088-30091.
-
(2000)
J. Biol. Chem.
, vol.275
, pp. 30088-30091
-
-
Henderson, J.M.1
Wells, L.2
Fridovich-Keil, J.L.3
-
18
-
-
0027324235
-
Rapid cloning by homologous recombination in vivo
-
P. Bubeck, M. Winkler, W. Bautsch, Rapid cloning by homologous recombination in vivo, Nucleic Acids Res. 21 (1993) 3601-3602.
-
(1993)
Nucleic Acids Res.
, vol.21
, pp. 3601-3602
-
-
Bubeck, P.1
Winkler, M.2
Bautsch, W.3
-
19
-
-
0003666095
-
-
Academic Press, San Diego, CA
-
C. Guthrie, G. Fink (Eds.), Guide to Yeast Genetics and Molecular Biology, Methods Enzymol., vol. 194, Academic Press, San Diego, CA, 1991.
-
(1991)
Guide to Yeast Genetics and Molecular Biology, Methods Enzymol.
, vol.194
-
-
Guthrie, C.1
Fink, G.2
-
20
-
-
0029586136
-
Characterization of the N314D allele of human galactose-1-phosphate uridylyltransferase using a yeast expression system
-
J.L. Fridovich-Keil, B.B. Quimby, L. Wells, L.A. Mazur, J.P. Elsevier, Characterization of the N314D allele of human galactose-1-phosphate uridylyltransferase using a yeast expression system, Biochem. Mol. Med. 56 (1995) 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
-
21
-
-
0027398293
-
A yeast expression system for human galactose-1-phosphate uridylyltransferase
-
J.L. Fridovich-Keil, S. Jinks-Robertson, A yeast expression system for human galactose-1-phosphate uridylyltransferase, Proc. Natl. Acad. Sci. USA 90 (1993) 398-402.
-
(1993)
Proc. Natl. Acad. Sci. USA
, vol.90
, pp. 398-402
-
-
Fridovich-Keil, J.L.1
Jinks-Robertson, S.2
-
22
-
-
0028899506
-
Identification and functional analysis of three distinct mutations in the human galactose-1-phosphate uridyltransferase gene associated with galactosemia in a single family
-
J.L. Fridovich-Keil, S.D. Langley, L.A. Mazur, J.C. Lennon, P.P. Dembure, L.J. Elsas, Identification and functional analysis of three distinct mutations in the human galactose-1-phosphate uridyltransferase gene associated with galactosemia in a single family, Am. J. Hum. Genet. 56 (1995) 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
-
24
-
-
0030869976
-
Biochemical characterization of the S135L allele of galactose-1-phosphate uridylyltransferase associated with galactosemia
-
L. Wells, J.L. Fridovich-Keil, Biochemical characterization of the S135L allele of galactose-1-phosphate uridylyltransferase associated with galactosemia, J. Inherit. Metab. Dis. 20 (1997) 633-642.
-
(1997)
J. Inherit. Metab. Dis.
, vol.20
, pp. 633-642
-
-
Wells, L.1
Fridovich-Keil, J.L.2
-
25
-
-
0029810819
-
The structure of nucleotidylated histidine-166 of galactose-1-phosphate uridylyltransferase provides insight into phosphoryl group transfer
-
J.E. Wedekind, P.A. Frey, I. Rayment, The structure of nucleotidylated histidine-166 of galactose-1-phosphate uridylyltransferase provides insight into phosphoryl group transfer, Biochemistry 35(1996) 11560-11569.
-
(1996)
Biochemistry
, vol.35
, pp. 11560-11569
-
-
Wedekind, J.E.1
Frey, P.A.2
Rayment, I.3
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