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Items: 1 to 20 of 43

1.

A first case report of UDP-galactose-4'-epimerase deficiency in China: genotype and phenotype.

Tong F, Yang R, Hong F, Qian G, Jiang P, Gao R.

J Pediatr Endocrinol Metab. 2016 Mar;29(3):379-83. doi: 10.1515/jpem-2014-0462.

PMID:
26565537
2.

UDP-hexose 4-epimerases: a view on structure, mechanism and substrate specificity.

Beerens K, Soetaert W, Desmet T.

Carbohydr Res. 2015 Sep 23;414:8-14. doi: 10.1016/j.carres.2015.06.006. Epub 2015 Jun 21. Review.

PMID:
26162744
3.

The critical role of UDP-galactose-4-epimerase in osteoarthritis: modulating proteoglycans synthesis of the articular chondrocytes.

Wen Y, Qin J, Deng Y, Wang H, Magdalou J, Chen L.

Biochem Biophys Res Commun. 2014 Oct 3;452(4):906-11. doi: 10.1016/j.bbrc.2014.08.148. Epub 2014 Sep 6.

PMID:
25201731
4.

The metastability of human UDP-galactose 4'-epimerase (GALE) is increased by variants associated with type III galactosemia but decreased by substrate and cofactor binding.

Pey AL, Padín-Gonzalez E, Mesa-Torres N, Timson DJ.

Arch Biochem Biophys. 2014 Nov 15;562:103-14. doi: 10.1016/j.abb.2014.07.030. Epub 2014 Aug 19.

PMID:
25150110
5.

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
6.

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.

7.

Epimerase Deficiency Galactosemia.

Fridovich-Keil J, Bean L, He M, Schroer R.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2011 Jan 25 [updated 2016 Jun 16].

8.

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.

9.

Analysis of UDP-galactose 4'-epimerase mutations associated with the intermediate form of type III galactosaemia.

Chhay JS, Vargas CA, McCorvie TJ, Fridovich-Keil JL, Timson DJ.

J Inherit Metab Dis. 2008 Feb;31(1):108-16. doi: 10.1007/s10545-007-0790-9. Epub 2008 Jan 14.

PMID:
18188677
10.

The structural and molecular biology of type III galactosemia.

Timson DJ.

IUBMB Life. 2006 Feb;58(2):83-9. Review.

11.

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.

12.

The molecular basis of UDP-galactose-4-epimerase (GALE) deficiency galactosemia in Korean patients.

Park HD, Park KU, Kim JQ, Shin CH, Yang SW, Lee DH, Song YH, Song J.

Genet Med. 2005 Nov-Dec;7(9):646-9.

PMID:
16301867
13.

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.

14.

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
15.

Molecular basis for severe epimerase deficiency galactosemia. X-ray structure of the human V94m-substituted UDP-galactose 4-epimerase.

Thoden JB, Wohlers TM, Fridovich-Keil JL, Holden HM.

J Biol Chem. 2001 Jun 8;276(23):20617-23. Epub 2001 Mar 7.

16.

Human UDP-galactose 4-epimerase. Accommodation of UDP-N-acetylglucosamine within the active site.

Thoden JB, Wohlers TM, Fridovich-Keil JL, Holden HM.

J Biol Chem. 2001 May 4;276(18):15131-6. Epub 2001 Jan 26.

17.

Crystallographic evidence for Tyr 157 functioning as the active site base in human UDP-galactose 4-epimerase.

Thoden JB, Wohlers TM, Fridovich-Keil JL, Holden HM.

Biochemistry. 2000 May 16;39(19):5691-701.

PMID:
10801319
18.
19.

Molecular characterization of a unique patient with epimerase-deficiency galactosaemia.

Alano A, Almashanu S, Chinsky JM, Costeas P, Blitzer MG, Wulfsberg EA, Cowan TM.

J Inherit Metab Dis. 1998 Jun;21(4):341-50.

PMID:
9700591
20.

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

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