"Molecular cloning, characterization, and mapping of a full-length cDNA encoding human UDP-galactose 4'-epimerase."
Daude N. , Gallaher T.K. , Zeschnigk M. , Starzinski-Powitz A. , Petry K.G. , Haworth I.S. , Reichardt J.K.V.
Biochem. Mol. Med.56:1-7(1995) [PubMed] [Europe PMC] [Abstract]

"Human UDP-galactose 4'epimerase (GALE) gene and identification of five missense mutations in patients with epimerase deficiency galactosemia."
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Mol. Genet. Metab.63:26-30(1998) [PubMed] [Europe PMC] [Abstract]

"Epimerase-deficiency galactosemia is not a binary condition."
Openo K.K. , Schulz J.M. , Vargas C.A. , Orton C.S. , Epstein M.P. , Schnur R.E. , Scaglia F. , Berry G.T. , Gottesman G.S. , Ficicioglu C. , Slonim A.E. , Schroer R.J. , Yu C. , Rangel V.E. , Keenan J. , Lamance K. , Fridovich-Keil J.L.
Am. J. Hum. Genet.78:89-102(2006) [PubMed] [Europe PMC] [Abstract]

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T. , Suzuki Y. , Nishikawa T. , Otsuki T. , Sugiyama T. , Irie R. , Wakamatsu A. , Hayashi K. , Sato H. , Nagai K. , Kimura K. , Makita H. , Sekine M. , Obayashi M. , Nishi T. , Shibahara T. , Tanaka T. , Ishii S. , Yamamoto J. , Saito K. , Kawai Y. , Isono Y. , Nakamura Y. , Nagahari K. , Murakami K. , Yasuda T. , Iwayanagi T. , Wagatsuma M. , Shiratori A. , Sudo H. , Hosoiri T. , Kaku Y. , Kodaira H. , Kondo H. , Sugawara M. , Takahashi M. , Kanda K. , Yokoi T. , Furuya T. , Kikkawa E. , Omura Y. , Abe K. , Kamihara K. , Katsuta N. , Sato K. , Tanikawa M. , Yamazaki M. , Ninomiya K. , Ishibashi T. , Yamashita H. , Murakawa K. , Fujimori K. , Tanai H. , Kimata M. , Watanabe M. , Hiraoka S. , Chiba Y. , Ishida S. , Ono Y. , Takiguchi S. , Watanabe S. , Yosida M. , Hotuta T. , Kusano J. , Kanehori K. , Takahashi-Fujii A. , Hara H. , Tanase T.-O. , Nomura Y. , Togiya S. , Komai F. , Hara R. , Takeuchi K. , Arita M. , Imose N. , Musashino K. , Yuuki H. , Oshima A. , Sasaki N. , Aotsuka S. , Yoshikawa Y. , Matsunawa H. , Ichihara T. , Shiohata N. , Sano S. , Moriya S. , Momiyama H. , Satoh N. , Takami S. , Terashima Y. , Suzuki O. , Nakagawa S. , Senoh A. , Mizoguchi H. , Goto Y. , Shimizu F. , Wakebe H. , Hishigaki H. , Watanabe T. , Sugiyama A. , Takemoto M. , Kawakami B. , Yamazaki M. , Watanabe K. , Kumagai A. , Itakura S. , Fukuzumi Y. , Fujimori Y. , Komiyama M. , Tashiro H. , Tanigami A. , Fujiwara T. , Ono T. , Yamada K. , Fujii Y. , Ozaki K. , Hirao M. , Ohmori Y. , Kawabata A. , Hikiji T. , Kobatake N. , Inagaki H. , Ikema Y. , Okamoto S. , Okitani R. , Kawakami T. , Noguchi S. , Itoh T. , Shigeta K. , Senba T. , Matsumura K. , Nakajima Y. , Mizuno T. , Morinaga M. , Sasaki M. , Togashi T. , Oyama M. , Hata H. , Watanabe M. , Komatsu T. , Mizushima-Sugano J. , Satoh T. , Shirai Y. , Takahashi Y. , Nakagawa K. , Okumura K. , Nagase T. , Nomura N. , Kikuchi H. , Masuho Y. , Yamashita R. , Nakai K. , Yada T. , Nakamura Y. , Ohara O. , Isogai T. , Sugano S. more...
Nat. Genet.36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence and biological annotation of human chromosome 1."
Gregory S.G. , Barlow K.F. , McLay K.E. , Kaul R. , Swarbreck D. , Dunham A. , Scott C.E. , Howe K.L. , Woodfine K. , Spencer C.C.A. , Jones M.C. , Gillson C. , Searle S. , Zhou Y. , Kokocinski F. , McDonald L. , Evans R. , Phillips K. , Atkinson A. , Cooper R. , Jones C. , Hall R.E. , Andrews T.D. , Lloyd C. , Ainscough R. , Almeida J.P. , Ambrose K.D. , Anderson F. , Andrew R.W. , Ashwell R.I.S. , Aubin K. , Babbage A.K. , Bagguley C.L. , Bailey J. , Beasley H. , Bethel G. , Bird C.P. , Bray-Allen S. , Brown J.Y. , Brown A.J. , Buckley D. , Burton J. , Bye J. , Carder C. , Chapman J.C. , Clark S.Y. , Clarke G. , Clee C. , Cobley V. , Collier R.E. , Corby N. , Coville G.J. , Davies J. , Deadman R. , Dunn M. , Earthrowl M. , Ellington A.G. , Errington H. , Frankish A. , Frankland J. , French L. , Garner P. , Garnett J. , Gay L. , Ghori M.R.J. , Gibson R. , Gilby L.M. , Gillett W. , Glithero R.J. , Grafham D.V. , Griffiths C. , Griffiths-Jones S. , Grocock R. , Hammond S. , Harrison E.S.I. , Hart E. , Haugen E. , Heath P.D. , Holmes S. , Holt K. , Howden P.J. , Hunt A.R. , Hunt S.E. , Hunter G. , Isherwood J. , James R. , Johnson C. , Johnson D. , Joy A. , Kay M. , Kershaw J.K. , Kibukawa M. , Kimberley A.M. , King A. , Knights A.J. , Lad H. , Laird G. , Lawlor S. , Leongamornlert D.A. , Lloyd D.M. , Loveland J. , Lovell J. , Lush M.J. , Lyne R. , Martin S. , Mashreghi-Mohammadi M. , Matthews L. , Matthews N.S.W. , McLaren S. , Milne S. , Mistry S. , Moore M.J.F. , Nickerson T. , O'Dell C.N. , Oliver K. , Palmeiri A. , Palmer S.A. , Parker A. , Patel D. , Pearce A.V. , Peck A.I. , Pelan S. , Phelps K. , Phillimore B.J. , Plumb R. , Rajan J. , Raymond C. , Rouse G. , Saenphimmachak C. , Sehra H.K. , Sheridan E. , Shownkeen R. , Sims S. , Skuce C.D. , Smith M. , Steward C. , Subramanian S. , Sycamore N. , Tracey A. , Tromans A. , Van Helmond Z. , Wall M. , Wallis J.M. , White S. , Whitehead S.L. , Wilkinson J.E. , Willey D.L. , Williams H. , Wilming L. , Wray P.W. , Wu Z. , Coulson A. , Vaudin M. , Sulston J.E. , Durbin R.M. , Hubbard T. , Wooster R. , Dunham I. , Carter N.P. , McVean G. , Ross M.T. , Harrow J. , Olson M.V. , Beck S. , Rogers J. , Bentley D.R. more...
Nature441:315-321(2006) [PubMed] [Europe PMC] [Abstract]

Mural R.J. , Istrail S. , Sutton G.G. , Florea L. , Halpern A.L. , Mobarry C.M. , Lippert R. , Walenz B. , Shatkay H. , Dew I. , Miller J.R. , Flanigan M.J. , Edwards N.J. , Bolanos R. , Fasulo D. , Halldorsson B.V. , Hannenhalli S. , Turner R. , Yooseph S. , Lu F. , Nusskern D.R. , Shue B.C. , Zheng X.H. , Zhong F. , Delcher A.L. , Huson D.H. , Kravitz S.A. , Mouchard L. , Reinert K. , Remington K.A. , Clark A.G. , Waterman M.S. , Eichler E.E. , Adams M.D. , Hunkapiller M.W. , Myers E.W. , Venter J.C. more...
Submitted (2005-07) to the EMBL/GenBank/DDBJ databases

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res.14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"UDP-galactose 4'-epimerase activities toward UDP-Gal and UDP-GalNAc play different roles in the development of Drosophila melanogaster."
Daenzer J.M. , Sanders R.D. , Hang D. , Fridovich-Keil J.L.
PLoS Genet.8:E1002721-E1002721(2012) [PubMed] [Europe PMC] [Abstract]

"Comparison of dynamics of wildtype and V94M human UDP-galactose 4-epimerase-A computational perspective on severe epimerase-deficiency galactosemia."
Timson D.J. , Lindert S.
Gene526:318-324(2013) [PubMed] [Europe PMC] [Abstract]

"Determinants of function and substrate specificity in human UDP-galactose 4'-epimerase."
Schulz J.M. , Watson A.L. , Sanders R. , Ross K.L. , Thoden J.B. , Holden H.M. , Fridovich-Keil J.L.
J. Biol. Chem.279:32796-32803(2004) [PubMed] [Europe PMC] [Abstract]

"Initial characterization of the human central proteome."
Burkard T.R. , Planyavsky M. , Kaupe I. , Breitwieser F.P. , Buerckstuemmer T. , Bennett K.L. , Superti-Furga G. , Colinge J.
BMC Syst. Biol.5:17-17(2011) [PubMed] [Europe PMC] [Abstract]

"Crystallographic evidence for Tyr 157 functioning as the active site Proton acceptor in human UDP-galactose 4-epimerase."
Thoden J.B. , Wohlers T.M. , Fridovich-Keil J.L. , Holden H.M.
Biochemistry39:5691-5701(2000) [PubMed] [Europe PMC] [Abstract]

"Human UDP-galactose 4-epimerase. Accommodation of UDP-N-acetylglucosamine within the active site."
Thoden J.B. , Wohlers T.M. , Fridovich-Keil J.L. , Holden H.M.
J. Biol. Chem.276:15131-15136(2001) [PubMed] [Europe PMC] [Abstract]

"Molecular basis for severe epimerase deficiency galactosemia. X-ray structure of the human V94m-substituted UDP-galactose 4-epimerase."
Thoden J.B. , Wohlers T.M. , Fridovich-Keil J.L. , Holden H.M.
J. Biol. Chem.276:20617-20623(2001) [PubMed] [Europe PMC] [Abstract]

"Characterization of two mutations associated with epimerase-deficiency galactosemia, by use of a yeast expression system for human UDP-galactose-4-epimerase."
Quimby B.B. , Alano A. , Almashanu S. , Desandro A.M. , Cowan T.M. , Fridovich-Keil J.L.
Am. J. Hum. Genet.61:590-598(1997) [PubMed] [Europe PMC] [Abstract]

"Identification and characterization of a mutation, in the human UDP-galactose-4-epimerase gene, associated with generalized epimerase-deficiency galactosemia."
Wohlers T.M. , Christacos N.C. , Harreman M.T. , Fridovich-Keil J.L.
Am. J. Hum. Genet.64:462-470(1999) [PubMed] [Europe PMC] [Abstract]

"Studies of the V94M-substituted human UDPgalactose-4-epimerase enzyme associated with generalized epimerase-deficiency galactosaemia."
Wohlers T.M. , Fridovich-Keil J.L.
J. Inherit. Metab. Dis.23:713-729(2000) [PubMed] [Europe PMC] [Abstract]

"A PCR-based method for detecting known mutations in the human UDP galactose-4'-epimerase gene associated with epimerase-deficiency galactosemia."
Henderson J.M. , Huguenin S.M. , Cowan T.M. , Fridovich-Keil J.L.
Clin. Genet.60:350-355(2001) [PubMed] [Europe PMC] [Abstract]

"Functional analysis of disease-causing mutations in human UDP-galactose 4-epimerase."
Timson D.J.
FEBS J.272:6170-6177(2005) [PubMed] [Europe PMC] [Abstract]

"The molecular basis of UDP-galactose-4-epimerase (GALE) deficiency galactosemia in Korean patients."
Park H.-D. , Park K.U. , Kim J.Q. , Shin C.H. , Yang S.W. , Lee D.H. , Song Y.-H. , Song J.
Genet. Med.7:646-649(2005) [PubMed] [Europe PMC] [Abstract]

"Functional characterization of the K257R and G319E-hGALE alleles found in patients with ostensibly peripheral epimerase deficiency galactosemia."
Wasilenko J. , Lucas M.E. , Thoden J.B. , Holden H.M. , Fridovich-Keil J.L.
Mol. Genet. Metab.84:32-38(2005) [PubMed] [Europe PMC] [Abstract]