167 related articles for article (PubMed ID: 23430501)
1. 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. PubMed ID: 23430501
[TBL] [Abstract][Full Text] [Related]
2. 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. PubMed ID: 17981065
[TBL] [Abstract][Full Text] [Related]
3. 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. PubMed ID: 16385452
[TBL] [Abstract][Full Text] [Related]
4. 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; 3(9-10):628-38. PubMed ID: 20519568
[TBL] [Abstract][Full Text] [Related]
5. 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; 280(14):13493-502. PubMed ID: 15701638
[TBL] [Abstract][Full Text] [Related]
6. 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. PubMed ID: 22654673
[TBL] [Abstract][Full Text] [Related]
7. 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; 526(2):318-24. PubMed ID: 23732289
[TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 11117433
[TBL] [Abstract][Full Text] [Related]
9. 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. PubMed ID: 9973283
[TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 9326324
[TBL] [Abstract][Full Text] [Related]
11.
Marín-Quílez A; Di Buduo CA; Benito R; Balduini A; Rivera J; Bastida JM
Platelets; 2023 Dec; 34(1):2176699. PubMed ID: 36846897
[TBL] [Abstract][Full Text] [Related]
12. 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; 279(31):32796-803. PubMed ID: 15175331
[TBL] [Abstract][Full Text] [Related]
13. Relationship between UDP-galactose 4'-epimerase activity and galactose sensitivity in yeast.
Wasilenko J; Fridovich-Keil JL
J Biol Chem; 2006 Mar; 281(13):8443-9. PubMed ID: 16452467
[TBL] [Abstract][Full Text] [Related]
14. The structural basis of substrate promiscuity in UDP-hexose 4-epimerase from the hyperthermophilic Eubacterium Thermotoga maritima.
Shin SM; Choi JM; di Luccio E; Lee YJ; Lee SJ; Lee SJ; Lee SH; Lee DW
Arch Biochem Biophys; 2015 Nov; 585():39-51. PubMed ID: 26344854
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 15639193
[TBL] [Abstract][Full Text] [Related]
16. 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. PubMed ID: 9538513
[TBL] [Abstract][Full Text] [Related]
17. Molecular characterisation of Entamoeba histolytica UDP-glucose 4-epimerase, an enzyme able to provide building blocks for cyst wall formation.
Nagode A; Vanbeselaere J; Dutkiewicz Z; Kaltenbrunner S; Wilson IBH; Duchêne M
PLoS Negl Trop Dis; 2023 Aug; 17(8):e0011574. PubMed ID: 37616327
[TBL] [Abstract][Full Text] [Related]
18. 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; 276(23):20617-23. PubMed ID: 11279193
[TBL] [Abstract][Full Text] [Related]
19. Hereditary galactosemia.
Demirbas D; Coelho AI; Rubio-Gozalbo ME; Berry GT
Metabolism; 2018 Jun; 83():188-196. PubMed ID: 29409891
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]