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Results: 1 to 20 of 111

1.

UDP-galactose 4' epimerase (GALE) is essential for development of Drosophila melanogaster.

Sanders RD, Sefton JM, Moberg KH, Fridovich-Keil JL.

Dis Model Mech. 2010 Sep-Oct;3(9-10):628-38. doi: 10.1242/dmm.005058. Epub 2010 Jun 2.

PMID:
20519568
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

UDP-galactose 4'-epimerase activities toward UDP-Gal and UDP-GalNAc play different roles in the development of Drosophila melanogaster.

Daenzer JM, Sanders RD, Hang D, Fridovich-Keil JL.

PLoS Genet. 2012;8(5):e1002721. doi: 10.1371/journal.pgen.1002721. Epub 2012 May 24.

PMID:
22654673
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Mediators of galactose sensitivity in UDP-galactose 4'-epimerase-impaired mammalian cells.

Schulz JM, Ross KL, Malmstrom K, Krieger M, Fridovich-Keil JL.

J Biol Chem. 2005 Apr 8;280(14):13493-502. Epub 2005 Feb 8.

PMID:
15701638
[PubMed - indexed for MEDLINE]
Free Article
4.

Distinct roles of galactose-1P in galactose-mediated growth arrest of yeast deficient in galactose-1P uridylyltransferase (GALT) and UDP-galactose 4'-epimerase (GALE).

Mumma JO, Chhay JS, Ross KL, Eaton JS, Newell-Litwa KA, Fridovich-Keil JL.

Mol Genet Metab. 2008 Feb;93(2):160-71. Epub 2007 Nov 5.

PMID:
17981065
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

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, Fridovich-Keil JL.

Am J Hum Genet. 1997 Sep;61(3):590-8.

PMID:
9326324
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Comparison of dynamics of wildtype and V94M human UDP-galactose 4-epimerase-A computational perspective on severe epimerase-deficiency galactosemia.

Timson DJ, Lindert S.

Gene. 2013 Sep 10;526(2):318-24. doi: 10.1016/j.gene.2013.05.027. Epub 2013 May 31.

PMID:
23732289
[PubMed - indexed for MEDLINE]
7.

Epimerase-deficiency galactosemia is not a binary condition.

Openo KK, Schulz JM, Vargas CA, Orton CS, Epstein MP, Schnur RE, Scaglia F, Berry GT, Gottesman GS, Ficicioglu C, Slonim AE, Schroer RJ, Yu C, Rangel VE, Keenan J, Lamance K, Fridovich-Keil JL.

Am J Hum Genet. 2006 Jan;78(1):89-102. Epub 2005 Nov 14.

PMID:
16385452
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Determinants of function and substrate specificity in human UDP-galactose 4'-epimerase.

Schulz JM, Watson AL, Sanders R, Ross KL, Thoden JB, Holden HM, Fridovich-Keil JL.

J Biol Chem. 2004 Jul 30;279(31):32796-803. Epub 2004 Jun 2.

PMID:
15175331
[PubMed - indexed for MEDLINE]
Free Article
9.

Studies of the V94M-substituted human UDPgalactose-4-epimerase enzyme associated with generalized epimerase-deficiency galactosaemia.

Wohlers TM, Fridovich-Keil JL.

J Inherit Metab Dis. 2000 Nov;23(7):713-29.

PMID:
11117433
[PubMed - indexed for MEDLINE]
10.

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.

Am J Hum Genet. 1999 Feb;64(2):462-70.

PMID:
9973283
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

A Case Study of Monozygotic Twins Apparently Homozygous for a Novel Variant of UDP-Galactose 4'-epimerase (GALE) : A Complex Case of Variant GALE.

Liu Y, Bentler K, Coffee B, Chhay JS, Sarafoglou K, Fridovich-Keil JL.

JIMD Rep. 2013;7:89-98. doi: 10.1007/8904_2012_153. Epub 2012 Jul 1.

PMID:
23430501
[PubMed]
Free PMC Article
12.

Relationship between UDP-galactose 4'-epimerase activity and galactose sensitivity in yeast.

Wasilenko J, Fridovich-Keil JL.

J Biol Chem. 2006 Mar 31;281(13):8443-9. Epub 2006 Feb 1.

PMID:
16452467
[PubMed - indexed for MEDLINE]
Free Article
13.

A Drosophila melanogaster model of classic galactosemia.

Kushner RF, Ryan EL, Sefton JM, Sanders RD, Lucioni PJ, Moberg KH, Fridovich-Keil JL.

Dis Model Mech. 2010 Sep-Oct;3(9-10):618-27. doi: 10.1242/dmm.005041. Epub 2010 Jun 2.

PMID:
20519569
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

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, Okano Y, Reichardt J.

Mol Genet Metab. 1998 Jan;63(1):26-30.

PMID:
9538513
[PubMed - indexed for MEDLINE]
15.

Functional characterization of the K257R and G319E-hGALE alleles found in patients with ostensibly peripheral epimerase deficiency galactosemia.

Wasilenko J, Lucas ME, Thoden JB, Holden HM, Fridovich-Keil JL.

Mol Genet Metab. 2005 Jan;84(1):32-8.

PMID:
15639193
[PubMed - indexed for MEDLINE]
16.

Altered cofactor binding affects stability and activity of human UDP-galactose 4'-epimerase: implications for type III galactosemia.

McCorvie TJ, Liu Y, Frazer A, Gleason TJ, Fridovich-Keil JL, Timson DJ.

Biochim Biophys Acta. 2012 Oct;1822(10):1516-26. doi: 10.1016/j.bbadis.2012.05.007. Epub 2012 May 18.

PMID:
22613355
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Differential roles of the Leloir pathway enzymes and metabolites in defining galactose sensitivity in yeast.

Ross KL, Davis CN, Fridovich-Keil JL.

Mol Genet Metab. 2004 Sep-Oct;83(1-2):103-16.

PMID:
15464425
[PubMed - indexed for MEDLINE]
18.

Functional analysis of mutations in UDP-galactose-4-epimerase (GALE) associated with galactosemia in Korean patients using mammalian GALE-null cells.

Bang YL, Nguyen TT, Trinh TT, Kim YJ, Song J, Song YH.

FEBS J. 2009 Apr;276(7):1952-61. doi: 10.1111/j.1742-4658.2009.06922.x. Epub 2009 Feb 23.

PMID:
19250319
[PubMed - indexed for MEDLINE]
19.

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.

Gene. 2013 Jul 25;524(2):95-104. doi: 10.1016/j.gene.2013.04.061. Epub 2013 May 1.

PMID:
23644136
[PubMed - indexed for MEDLINE]
20.

Role of galE on biofilm formation by Thermus spp.

Niou YK, Wu WL, Lin LC, Yu MS, Shu HY, Yang HH, Lin GH.

Biochem Biophys Res Commun. 2009 Dec 11;390(2):313-8. doi: 10.1016/j.bbrc.2009.09.120. Epub 2009 Oct 1.

PMID:
19800315
[PubMed - indexed for MEDLINE]

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