-
1
-
-
0242498430
-
Structure and function of enzymes of the Leloir pathway for galactose metabolism
-
Holden HM, Rayment I, Thoden JB, (2003) Structure and function of enzymes of the Leloir pathway for galactose metabolism. J Biol Chem 278: 43885-43888.
-
(2003)
J Biol Chem
, vol.278
, pp. 43885-43888
-
-
Holden, H.M.1
Rayment, I.2
Thoden, J.B.3
-
2
-
-
0022527678
-
Reversible defects in O-linked glycosylation and LDL receptor expression in a UDP-Gal/UDP-GalNAc 4-epimerase deficient mutant
-
Kingsley D, Kozarsky KF, Hobbie L, Krieger M, (1986) Reversible defects in O-linked glycosylation and LDL receptor expression in a UDP-Gal/UDP-GalNAc 4-epimerase deficient mutant. Cell 44: 749-759.
-
(1986)
Cell
, vol.44
, pp. 749-759
-
-
Kingsley, D.1
Kozarsky, K.F.2
Hobbie, L.3
Krieger, M.4
-
3
-
-
0347320579
-
The rate of de novo galactose synthesis in patients with galactose-1-phosphate uridyltransferase deficiency
-
Berry G, Moate P, Reynolds R, Yager C, Ning C, et al. (2004) The rate of de novo galactose synthesis in patients with galactose-1-phosphate uridyltransferase deficiency. Mol Genet Metab 81: 22-30.
-
(2004)
Mol Genet Metab
, vol.81
, pp. 22-30
-
-
Berry, G.1
Moate, P.2
Reynolds, R.3
Yager, C.4
Ning, C.5
-
4
-
-
84874499102
-
-
8 Ed: McGraw Hill
-
Holton JB, et al. (2000) 8 ed: McGraw Hill pp. 1553-1587.
-
(2000)
, pp. 1553-1587
-
-
Holton, J.B.1
-
5
-
-
84863651487
-
American Journal of Human Genetics
-
Maceratesi P, Dallapicolla B, Novelli G, Okano Y, Isshiki G, Reichardt J, (1996) American Journal of Human Genetics. 59.
-
(1996)
, vol.59
-
-
Maceratesi, P.1
Dallapicolla, B.2
Novelli, G.3
Okano, Y.4
Isshiki, G.5
Reichardt, J.6
-
6
-
-
0031669072
-
Human UDP-galactose 4′ epimerase (GALE) gene and identification of five missense mutations in patients with epimerase-deficiency galactosemia
-
Maceratesi P, Daude N, Dallapiccola B, Novelli G, Allen R, et al. (1998) Human UDP-galactose 4′ epimerase (GALE) gene and identification of five missense mutations in patients with epimerase-deficiency galactosemia. Molecular Genetics & Metabolism 63: 26-30.
-
(1998)
Molecular Genetics & Metabolism
, vol.63
, pp. 26-30
-
-
Maceratesi, P.1
Daude, N.2
Dallapiccola, B.3
Novelli, G.4
Allen, R.5
-
7
-
-
0030826263
-
Characterization of two mutations associated with epimerase-deficiency galactosemia, by use of a yeast expression system for human UDP-galactose-4-epimerase
-
Quimby BB, Alano A, Almashanu S, DeSandro AM, Cowan TM, et al. (1997) Characterization of two mutations associated with epimerase-deficiency galactosemia, by use of a yeast expression system for human UDP-galactose-4-epimerase. American Journal of Human Genetics 61: 590-598.
-
(1997)
American Journal of Human Genetics
, vol.61
, pp. 590-598
-
-
Quimby, B.B.1
Alano, A.2
Almashanu, S.3
DeSandro, A.M.4
Cowan, T.M.5
-
8
-
-
0033073396
-
Identification and Characterization of a Mutation, in the Human UDP-Galactose- 4-Epimerase Gene, Associated with Generalized Epimerase-Deficiency Galactosemia
-
Wohlers TM, Christacos NC, Harreman MT, Fridovich-Keil JL, (1999) Identification and Characterization of a Mutation, in the Human UDP-Galactose- 4-Epimerase Gene, Associated with Generalized Epimerase-Deficiency Galactosemia. American Journal of Human Genetics: American Society for Human Genetics.
-
(1999)
American Journal of Human Genetics: American Society for Human Genetics
-
-
Wohlers, T.M.1
Christacos, N.C.2
Harreman, M.T.3
Fridovich-Keil, J.L.4
-
9
-
-
0033745216
-
Studies of the V94M-substituted human UDP-galactose-4-epimerase enzyme associated with generalized epimerase-deficiency galactosaemia
-
Wohlers TM, Fridovich-Keil JL, (2000) Studies of the V94M-substituted human UDP-galactose-4-epimerase enzyme associated with generalized epimerase-deficiency galactosaemia. Journal of Inherited Metabolic Disease 23: 713-729.
-
(2000)
Journal of Inherited Metabolic Disease
, vol.23
, pp. 713-729
-
-
Wohlers, T.M.1
Fridovich-Keil, J.L.2
-
10
-
-
77956531695
-
UDP-galactose 4′ epimerase (GALE) is essential for development of Drosophila melanogaster
-
Sanders RD, Sefton JMI, Moberg KH, Fridovich-Keil JL, (2010) UDP-galactose 4′ epimerase (GALE) is essential for development of Drosophila melanogaster. Disease Models & Mechanisms 3: 628-638.
-
(2010)
Disease Models & Mechanisms
, vol.3
, pp. 628-638
-
-
Sanders, R.D.1
Sefton, J.M.I.2
Moberg, K.H.3
Fridovich-Keil, J.L.4
-
11
-
-
0037178867
-
Structural analysis of the Y299C mutant of Escherichia coli UDP-galactose 4-epimerase. Teaching an old dog new tricks
-
Thoden J, Henderson J, Fridovich-Keil J, Holden H, (2002) Structural analysis of the Y299C mutant of Escherichia coli UDP-galactose 4-epimerase. Teaching an old dog new tricks. J Biol Chem 277: 27528-27534.
-
(2002)
J Biol Chem
, vol.277
, pp. 27528-27534
-
-
Thoden, J.1
Henderson, J.2
Fridovich-Keil, J.3
Holden, H.4
-
12
-
-
0037168448
-
New UDP-GlcNAc C4 epimerase involved in the biosynthesis of 2-acetamino-2-deoxy-L-altruronic acid in the O-antigen repeating units of Plesiomonas shigelloides O17
-
Kowal P, Wang P, (2002) New UDP-GlcNAc C4 epimerase involved in the biosynthesis of 2-acetamino-2-deoxy-L-altruronic acid in the O-antigen repeating units of Plesiomonas shigelloides O17. Biochemistry 41: 15410-15414.
-
(2002)
Biochemistry
, vol.41
, pp. 15410-15414
-
-
Kowal, P.1
Wang, P.2
-
13
-
-
0000344073
-
The enzymatic conversion of glucosamine to galactosamine
-
Maley F, Maley GF, (1959) The enzymatic conversion of glucosamine to galactosamine. Biochim Biophys Acta 31: 577-578.
-
(1959)
Biochim Biophys Acta
, vol.31
, pp. 577-578
-
-
Maley, F.1
Maley, G.F.2
-
14
-
-
0021035009
-
Co-purification and characterization of UDP-glucose 4-epimerase and UDP-N-acetylglucosamine 4-epimerase from porcine submaxillary glands
-
Piller F, Hanlon MH, Hill RL, (1983) Co-purification and characterization of UDP-glucose 4-epimerase and UDP-N-acetylglucosamine 4-epimerase from porcine submaxillary glands. J Biol Chem 258: 10774-10778.
-
(1983)
J Biol Chem
, vol.258
, pp. 10774-10778
-
-
Piller, F.1
Hanlon, M.H.2
Hill, R.L.3
-
15
-
-
3543045527
-
Determinants of function and substrate specificity in human UDP-galactose 4′-epimerase
-
Schulz J, Watson A, Sanders R, Ross K, Thoden J, et al. (2004) Determinants of function and substrate specificity in human UDP-galactose 4′-epimerase. J Biol Chem 279: 32796-32803.
-
(2004)
J Biol Chem
, vol.279
, pp. 32796-32803
-
-
Schulz, J.1
Watson, A.2
Sanders, R.3
Ross, K.4
Thoden, J.5
-
16
-
-
84863636182
-
Epimerase Deficiency Galactosemia
-
In: Pagon R, Bird T, Dolan C, Stephens K, editors, Seattle, (WA), University of Washington, Seattle
-
Fridovich-Keil J, Bean L, He M, Schroer R, (2011) Epimerase Deficiency Galactosemia. In: Pagon R, Bird T, Dolan C, Stephens K, editors. GeneReviews Seattle, (WA) University of Washington, Seattle.
-
(2011)
GeneReviews
-
-
Fridovich-Keil, J.1
Bean, L.2
He, M.3
Schroer, R.4
-
17
-
-
17144423209
-
Mediators of galactose sensitivity in UDP-galactose 4′-epimerase-impaired mammalian cells
-
Schulz J, Ross K, Malmstrom K, Krieger M, Fridovich-Keil J, (2005) Mediators of galactose sensitivity in UDP-galactose 4′-epimerase-impaired mammalian cells. J Biol Chem 280: 13493-13502.
-
(2005)
J Biol Chem
, vol.280
, pp. 13493-13502
-
-
Schulz, J.1
Ross, K.2
Malmstrom, K.3
Krieger, M.4
Fridovich-Keil, J.5
-
18
-
-
29244438982
-
Epimerase-deficiency galactosemia is not a binary condition
-
Openo K, Schulz J, Vargas C, Orton C, Epstein M, et al. (2006) Epimerase-deficiency galactosemia is not a binary condition. Am J Hum Genet 78: 89-102.
-
(2006)
Am J Hum Genet
, vol.78
, pp. 89-102
-
-
Openo, K.1
Schulz, J.2
Vargas, C.3
Orton, C.4
Epstein, M.5
-
19
-
-
0033745216
-
Studies of the V94M-substituted human UDP-galactose-4-epimerase enzyme associated with generalized epimerase-deficiency galactosemia
-
Wohlers T, Fridovich-Keil JL, (2000) Studies of the V94M-substituted human UDP-galactose-4-epimerase enzyme associated with generalized epimerase-deficiency galactosemia. J Inher Metab Dis 23: 713-729.
-
(2000)
J Inher Metab Dis
, vol.23
, pp. 713-729
-
-
Wohlers, T.1
Fridovich-Keil, J.L.2
-
20
-
-
0033073396
-
Identification and Characterization of a Mutation, in the Human UDP Galactose-4-Epimerase Gene, Associated with Generalized Epimerase-Deficiency Galactosemia
-
Wohlers TM, Christacos NC, Harreman MT, Fridovich-Keil JL, (1999) Identification and Characterization of a Mutation, in the Human UDP Galactose-4-Epimerase Gene, Associated with Generalized Epimerase-Deficiency Galactosemia. Am J Hum Gen 64: 462-470.
-
(1999)
Am J Hum Gen
, vol.64
, pp. 462-470
-
-
Wohlers, T.M.1
Christacos, N.C.2
Harreman, M.T.3
Fridovich-Keil, J.L.4
-
21
-
-
24344499674
-
Induction of cAMP response element-binding protein-dependent medium-term memory by appetitive gustatory reinforcement in Drosophila larvae
-
Honjo KFTK, (2005) Induction of cAMP response element-binding protein-dependent medium-term memory by appetitive gustatory reinforcement in Drosophila larvae. Journal of Neuroscience 25: 7905-7913.
-
(2005)
Journal of Neuroscience
, vol.25
, pp. 7905-7913
-
-
Honjo, K.F.T.K.1
-
22
-
-
0027160708
-
Targeted gene expression as a means of altering cell fates and generating dominant phenotypes
-
Brand AH, Perrimon N, (1993) Targeted gene expression as a means of altering cell fates and generating dominant phenotypes. Development 118: 401-415.
-
(1993)
Development
, vol.118
, pp. 401-415
-
-
Brand, A.H.1
Perrimon, N.2
-
23
-
-
4744347780
-
Differential roles of the Leloir pathway enzymes and metabolites in defining galactose sensitivity in yeast
-
Ross KL, Davis CN, Fridovich-Keil JL, (2004) Differential roles of the Leloir pathway enzymes and metabolites in defining galactose sensitivity in yeast. Mol Gen Metab 83: 103-116.
-
(2004)
Mol Gen Metab
, vol.83
, pp. 103-116
-
-
Ross, K.L.1
Davis, C.N.2
Fridovich-Keil, J.L.3
|