| Year |
Citation |
Score |
| 2024 |
Daenzer JMI, Druss JJ, Fridovich-Keil JL. Restoring galactose metabolism without restoring GALT rescues both compromised survival in larvae and an adult climbing deficit in a GALT-null D. Melanogaster model of classic galactosemia. Journal of Inherited Metabolic Disease. PMID 38960603 DOI: 10.1002/jimd.12774 |
0.392 |
|
| 2017 |
Frederick AB, Cutler DJ, Fridovich-Keil JL. Rigor of non-dairy galactose restriction in early childhood, measured by retrospective survey, does not associate with severity of five long-term outcomes quantified in 231 children and adults with classic galactosemia. Journal of Inherited Metabolic Disease. PMID 28695375 DOI: 10.1007/S10545-017-0067-X |
0.317 |
|
| 2016 |
Daenzer JM, Jumbo-Lucioni PP, Hopson ML, Garza KR, Ryan EL, Fridovich-Keil JL. Acute and long-term outcomes in a Drosophila melanogaster model of classic galactosemia occur independently of galactose-1-phosphate accumulation. Disease Models & Mechanisms. PMID 27562100 DOI: 10.1242/Dmm.022988 |
0.754 |
|
| 2015 |
Liu Y, Sidhu A, Bean LH, Conway RL, Fridovich-Keil JL. Genetic and functional studies reveal a novel noncoding variant in GALT associated with a false positive newborn screening result for galactosemia. Clinica Chimica Acta; International Journal of Clinical Chemistry. 446: 171-4. PMID 25920691 DOI: 10.1016/J.Cca.2015.04.030 |
0.325 |
|
| 2014 |
Li Y, Huang X, Harmonay L, Liu Y, Kellogg MD, Fridovich-Keil JL, Berry GT. Liquid chromatography-tandem mass spectrometry enzyme assay for UDP-galactose 4'-epimerase: use of fragment intensity ratio in differentiation of structural isomers. Clinical Chemistry. 60: 783-90. PMID 24578239 DOI: 10.1373/Clinchem.2013.219931 |
0.312 |
|
| 2014 |
Jumbo-Lucioni PP, Ryan EL, Hopson ML, Bishop HM, Weitner T, Tovmasyan A, Spasojevic I, Batinic-Haberle I, Liang Y, Jones DP, Fridovich-Keil JL. Manganese-based superoxide dismutase mimics modify both acute and long-term outcome severity in a Drosophila melanogaster model of classic galactosemia. Antioxidants & Redox Signaling. 20: 2361-71. PMID 23758052 DOI: 10.1089/Ars.2012.5122 |
0.643 |
|
| 2013 |
Spencer JB, Badik JR, Ryan EL, Gleason TJ, Broadaway KA, Epstein MP, Fridovich-Keil JL. Modifiers of ovarian function in girls and women with classic galactosemia. The Journal of Clinical Endocrinology and Metabolism. 98: E1257-65. PMID 23690308 DOI: 10.1210/Jc.2013-1374 |
0.638 |
|
| 2013 |
McCorvie TJ, Gleason TJ, Fridovich-Keil JL, Timson DJ. Misfolding of galactose 1-phosphate uridylyltransferase can result in type I galactosemia. Biochimica Et Biophysica Acta. 1832: 1279-93. PMID 23583749 DOI: 10.1016/J.Bbadis.2013.04.004 |
0.5 |
|
| 2013 |
Ryan EL, Lynch ME, Taddeo E, Gleason TJ, Epstein MP, Fridovich-Keil JL. Cryptic residual GALT activity is a potential modifier of scholastic outcome in school age children with classic galactosemia. Journal of Inherited Metabolic Disease. 36: 1049-61. PMID 23319291 DOI: 10.1007/S10545-012-9575-X |
0.675 |
|
| 2013 |
Jumbo-Lucioni PP, Hopson ML, Hang D, Liang Y, Jones DP, Fridovich-Keil JL. Oxidative stress contributes to outcome severity in a Drosophila melanogaster model of classic galactosemia. Disease Models & Mechanisms. 6: 84-94. PMID 22773758 DOI: 10.1242/Dmm.010207 |
0.337 |
|
| 2013 |
Tamargo R, Velayati A, Trivedi N, Liu Y, Fridovich-Keil J, Westbroek W, Martin S, Sidransky E, Goldin E. Expression of GALT modulates glucocerebrosidase enzyme activity Molecular Genetics and Metabolism. 108. DOI: 10.1016/J.Ymgme.2012.11.241 |
0.411 |
|
| 2012 |
Liu Y, Xia B, Gleason TJ, Castañeda U, He M, Berry GT, Fridovich-Keil JL. N- and O-linked glycosylation of total plasma glycoproteins in galactosemia. Molecular Genetics and Metabolism. 106: 442-54. PMID 22743281 DOI: 10.1016/J.Ymgme.2012.05.025 |
0.384 |
|
| 2012 |
Ryan EL, DuBoff B, Feany MB, Fridovich-Keil JL. Mediators of a long-term movement abnormality in a Drosophila melanogaster model of classic galactosemia. Disease Models & Mechanisms. 5: 796-803. PMID 22736462 DOI: 10.1242/Dmm.009050 |
0.68 |
|
| 2012 |
Daenzer JM, Sanders RD, Hang D, Fridovich-Keil JL. UDP-galactose 4'-epimerase activities toward UDP-Gal and UDP-GalNAc play different roles in the development of Drosophila melanogaster. Plos Genetics. 8: e1002721. PMID 22654673 DOI: 10.1371/Journal.Pgen.1002721 |
0.787 |
|
| 2012 |
McCorvie TJ, Liu Y, Frazer A, Gleason TJ, Fridovich-Keil JL, Timson DJ. Altered cofactor binding affects stability and activity of human UDP-galactose 4'-epimerase: implications for type III galactosemia. Biochimica Et Biophysica Acta. 1822: 1516-26. PMID 22613355 DOI: 10.1016/J.Bbadis.2012.05.007 |
0.432 |
|
| 2012 |
Jumbo-Lucioni PP, Garber K, Kiel J, Baric I, Berry GT, Bosch A, Burlina A, Chiesa A, Pico ML, Estrada SC, Henderson H, Leslie N, Longo N, Morris AA, Ramirez-Farias C, ... ... Fridovich-Keil JL, et al. Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes. Journal of Inherited Metabolic Disease. 35: 1037-49. PMID 22450714 DOI: 10.1007/S10545-012-9477-Y |
0.32 |
|
| 2011 |
McCorvie TJ, Wasilenko J, Liu Y, Fridovich-Keil JL, Timson DJ. In vivo and in vitro function of human UDP-galactose 4'-epimerase variants. Biochimie. 93: 1747-54. PMID 21703329 DOI: 10.1016/J.Biochi.2011.06.009 |
0.766 |
|
| 2010 |
Kushner RF, Ryan EL, Sefton JM, Sanders RD, Lucioni PJ, Moberg KH, Fridovich-Keil JL. A Drosophila melanogaster model of classic galactosemia. Disease Models & Mechanisms. 3: 618-27. PMID 20519569 DOI: 10.1242/Dmm.005041 |
0.7 |
|
| 2010 |
Sanders RD, Sefton JM, Moberg KH, Fridovich-Keil JL. UDP-galactose 4' epimerase (GALE) is essential for development of Drosophila melanogaster. Disease Models & Mechanisms. 3: 628-38. PMID 20519568 DOI: 10.1242/Dmm.005058 |
0.469 |
|
| 2009 |
Carney AE, Sanders RD, Garza KR, McGaha LA, Bean LJ, Coffee BW, Thomas JW, Cutler DJ, Kurtkaya NL, Fridovich-Keil JL. Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase. Human Molecular Genetics. 18: 1624-32. PMID 19224951 DOI: 10.1093/Hmg/Ddp080 |
0.365 |
|
| 2008 |
Chhay JS, Openo KK, Eaton JS, Gentile M, Fridovich-Keil JL. A yeast model reveals biochemical severity associated with each of three variant alleles of galactose-1P uridylyltransferase segregating in a single family Journal of Inherited Metabolic Disease. 31: 97-107. PMID 18210213 DOI: 10.1007/S10545-007-0786-5 |
0.444 |
|
| 2008 |
Chhay JS, Vargas CA, McCorvie TJ, Fridovich-Keil JL, Timson DJ. Analysis of UDP-galactose 4'-epimerase mutations associated with the intermediate form of type III galactosaemia. Journal of Inherited Metabolic Disease. 31: 108-16. PMID 18188677 DOI: 10.1007/S10545-007-0790-9 |
0.512 |
|
| 2008 |
Mumma JO, Chhay JS, Ross KL, Eaton JS, Newell-Litwa KA, Fridovich-Keil JL. Distinct roles of galactose-1P in galactose-mediated growth arrest of yeast deficient in galactose-1P uridylyltransferase (GALT) and UDP-galactose 4'-epimerase (GALE). Molecular Genetics and Metabolism. 93: 160-71. PMID 17981065 DOI: 10.1016/J.Ymgme.2007.09.012 |
0.438 |
|
| 2007 |
Brykailo MA, McLane LM, Fridovich-Keil J, Corbett AH. Analysis of a predicted nuclear localization signal: implications for the intracellular localization and function of the Saccharomyces cerevisiae RNA-binding protein Scp160. Nucleic Acids Research. 35: 6862-9. PMID 17933776 DOI: 10.1093/Nar/Gkm776 |
0.313 |
|
| 2006 |
Fridovich-Keil JL. Galactosemia: the good, the bad, and the unknown. Journal of Cellular Physiology. 209: 701-5. PMID 17001680 DOI: 10.1002/Jcp.20820 |
0.488 |
|
| 2006 |
Wasilenko J, Fridovich-Keil JL. Relationship between UDP-galactose 4'-epimerase activity and galactose sensitivity in yeast. The Journal of Biological Chemistry. 281: 8443-9. PMID 16452467 DOI: 10.1074/Jbc.M600778200 |
0.751 |
|
| 2006 |
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, ... ... Fridovich-Keil JL, et al. Epimerase-deficiency galactosemia is not a binary condition. American Journal of Human Genetics. 78: 89-102. PMID 16385452 DOI: 10.1086/498985 |
0.759 |
|
| 2005 |
Schulz JM, Ross KL, Malmstrom K, Krieger M, Fridovich-Keil JL. Mediators of galactose sensitivity in UDP-galactose 4'-epimerase-impaired mammalian cells. The Journal of Biological Chemistry. 280: 13493-502. PMID 15701638 DOI: 10.1074/Jbc.M414045200 |
0.759 |
|
| 2005 |
Wasilenko J, Lucas ME, Thoden JB, Holden HM, Fridovich-Keil JL. Functional characterization of the K257R and G319E-hGALE alleles found in patients with ostensibly peripheral epimerase deficiency galactosemia. Molecular Genetics and Metabolism. 84: 32-8. PMID 15639193 DOI: 10.1016/J.Ymgme.2004.09.003 |
0.789 |
|
| 2004 |
Ross KL, Davis CN, Fridovich-Keil JL. Differential roles of the Leloir pathway enzymes and metabolites in defining galactose sensitivity in yeast. Molecular Genetics and Metabolism. 83: 103-16. PMID 15464425 DOI: 10.1016/J.Ymgme.2004.07.005 |
0.459 |
|
| 2004 |
Li AM, Vargas CA, Brykailo MA, Openo KK, Corbett AH, Fridovich-Keil JL. Both KH and non-KH domain sequences are required for polyribosome association of Scp160p in yeast. Nucleic Acids Research. 32: 4768-75. PMID 15356294 DOI: 10.1093/Nar/Gkh812 |
0.356 |
|
| 2004 |
Schulz JM, Watson AL, Sanders R, Ross KL, Thoden JB, Holden HM, Fridovich-Keil JL. Determinants of function and substrate specificity in human UDP-galactose 4'-epimerase. The Journal of Biological Chemistry. 279: 32796-803. PMID 15175331 DOI: 10.1074/Jbc.M405005200 |
0.76 |
|
| 2002 |
Christacos NC, Fridovich-Keil JL. Impact of patient mutations on heterodimer formation and function in human galactose-1-P uridylyltransferase. Molecular Genetics and Metabolism. 76: 319-26. PMID 12208137 DOI: 10.1016/S1096-7192(02)00109-9 |
0.82 |
|
| 2002 |
Thoden JB, Henderson JM, Fridovich-Keil JL, Holden HM. Structural analysis of the Y299C mutant of Escherichia coli UDP-galactose 4-epimerase. Teaching an old dog new tricks. The Journal of Biological Chemistry. 277: 27528-34. PMID 12019271 DOI: 10.1074/Jbc.M204413200 |
0.515 |
|
| 2001 |
Henderson JM, Huguenin SM, Cowan TM, Fridovich-Keil JL. A PCR-based method for detecting known mutations in the human UDP galactose-4'-epimerase gene associated with epimerase-deficiency galactosemia. Clinical Genetics. 60: 350-5. PMID 11903335 DOI: 10.1034/J.1399-0004.2001.600505.X |
0.433 |
|
| 2001 |
Lang BD, Li Am, Black-Brewster HD, Fridovich-Keil JL. The brefeldin A resistance protein Bfr1p is a component of polyribosome-associated mRNP complexes in yeast. Nucleic Acids Research. 29: 2567-74. PMID 11410665 DOI: 10.1093/Nar/29.12.2567 |
0.715 |
|
| 2001 |
Thoden JB, Wohlers TM, Fridovich-Keil JL, Holden HM. Molecular basis for severe epimerase deficiency galactosemia. X-ray structure of the human V94m-substituted UDP-galactose 4-epimerase. The Journal of Biological Chemistry. 276: 20617-23. PMID 11279193 DOI: 10.1074/Jbc.M101304200 |
0.82 |
|
| 2001 |
Thoden JB, Wohlers TM, Fridovich-Keil JL, Holden HM. Human UDP-galactose 4-epimerase. Accommodation of UDP-N-acetylglucosamine within the active site. The Journal of Biological Chemistry. 276: 15131-6. PMID 11279032 DOI: 10.1074/Jbc.M100220200 |
0.812 |
|
| 2001 |
Riehman K, Crews C, Fridovich-Keil JL. Relationship between Genotype, Activity, and Galactose Sensitivity in Yeast Expressing Patient Alleles of Human Galactose-1-phosphate Uridylyltransferase Journal of Biological Chemistry. 276: 10634-10640. PMID 11152465 DOI: 10.1074/Jbc.M009583200 |
0.784 |
|
| 2000 |
Wohlers TM, Fridovich-Keil JL. Studies of the V94M-substituted human UDPgalactose-4-epimerase enzyme associated with generalized epimerase-deficiency galactosaemia. Journal of Inherited Metabolic Disease. 23: 713-29. PMID 11117433 DOI: 10.1023/A:1005682913784 |
0.841 |
|
| 2000 |
Christacos NC, Marson MJ, Wells L, Riehman K, Fridovich-Keil JL. Subcellular localization of galactose-1-phosphate uridylyltransferase in the yeast Saccharomyces cerevisiae. Molecular Genetics and Metabolism. 70: 272-80. PMID 10993714 DOI: 10.1006/Mgme.2000.3019 |
0.81 |
|
| 2000 |
Henderson JM, Wells L, Fridovich-Keil JL. Covalent heterogeneity of the human enzyme galactose-1-phosphate uridylyltransferase. The Journal of Biological Chemistry. 275: 30088-91. PMID 10884393 DOI: 10.1074/Jbc.M005259200 |
0.546 |
|
| 2000 |
Crews C, Wilkinson KD, Wells L, Perkins C, Fridovich-Keil JL. Functional consequence of substitutions at residue 171 in human galactose-1-phosphate uridylyltransferase. The Journal of Biological Chemistry. 275: 22847-53. PMID 10811638 DOI: 10.1074/Jbc.M001053200 |
0.787 |
|
| 2000 |
Thoden JB, Wohlers TM, Fridovich-Keil JL, Holden HM. Crystallographic evidence for Tyr 157 functioning as the active site base in human UDP-galactose 4-epimerase. Biochemistry. 39: 5691-701. PMID 10801319 DOI: 10.1021/Bi000215L |
0.792 |
|
| 2000 |
Lang BD, Fridovich-Keil JL. Scp160p, a multiple KH-domain protein, is a component of mRNP complexes in yeast. Nucleic Acids Research. 28: 1576-84. PMID 10710424 DOI: 10.1093/Nar/28.7.1576 |
0.708 |
|
| 1999 |
Wohlers TM, Christacos NC, Harreman MT, Fridovich-Keil JL. 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. 64: 462-70. PMID 9973283 DOI: 10.1086/302263 |
0.794 |
|
| 1997 |
Quimby BB, Alano A, Almashanu S, DeSandro AM, Cowan TM, Fridovich-Keil JL. 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: 590-8. PMID 9326324 DOI: 10.1086/515517 |
0.555 |
|
| 1996 |
Patrick Elsevier J, Fridovich-Keil JL. The Q188R mutation in human galactose-1-phosphate uridylyltransferase acts as a partial dominant negative Journal of Biological Chemistry. 271: 32002-32007. PMID 8943248 DOI: 10.1074/Jbc.271.50.32002 |
0.522 |
|
| 1996 |
Elsevier JP, Wells L, Quimby BB, Fridovich-Keil JL. Heterodimer formation and activity in the human enzyme galactose-1-phosphate uridylyltransferase Proceedings of the National Academy of Sciences of the United States of America. 93: 7166-7171. PMID 8692963 DOI: 10.1073/Pnas.93.14.7166 |
0.564 |
|
| 1996 |
Booth Quimby B, Welis L, Fridovich-Keil JL. Functional requirements of the active site position 185 in the human enzyme galactose-1-phosphate uridylyltransferase Faseb Journal. 10. DOI: 10.1074/Jbc.271.43.26835 |
0.533 |
|
| 1995 |
Fridovich-Keil JL, Quimby BB, Wells L, Mazur LA, Elsevier JP. Characterization of the N314D allele of human galactose-1-phosphate uridylyltransferase using a yeast expression system Biochemical and Molecular Medicine. 56: 121-130. PMID 8825075 DOI: 10.1006/bmme.1995.1067 |
0.426 |
|
| 1995 |
Fridovich-Keil JL, Langley SD, Mazur LA, Lennon JC, Dembure PP, Elsas LJ. Identification and functional analysis of three distinct mutations in the human galactose-1-phosphate uridyltransferase gene associated with galactosemia in a single family American Journal of Human Genetics. 56: 640-646. PMID 7887417 |
0.352 |
|
| 1993 |
Fridovich-Keil JL, Jinks-Robertson S. A yeast expression system for human galactose-1-phosphate uridylyltransferase Proceedings of the National Academy of Sciences of the United States of America. 90: 398-402. PMID 8421669 DOI: 10.1073/Pnas.90.2.398 |
0.562 |
|
| 1992 |
Leslie ND, Immerman EB, Flach JE, Florez M, Fridovich-Keil JL, Elsas LJ. The human galactose-1-phosphate uridyltransferase gene Genomics. 14: 474-480. PMID 1427861 DOI: 10.1016/S0888-7543(05)80244-7 |
0.425 |
|
| 1990 |
Bradley DW, Dou QP, Fridovich-Keil JL, Pardee AB. Transformed and nontransformed cells differ in stability and cell cycle regulation of a binding activity to the murine thymidine kinase promoter Proceedings of the National Academy of Sciences of the United States of America. 87: 9310-9314. PMID 2251273 DOI: 10.1073/Pnas.87.23.9310 |
0.309 |
|
| 1987 |
Fridovich-Keil JL, Bond JF, Solomon F. Domains of beta-tubulin essential for conserved functions in vivo. Molecular and Cellular Biology. 7: 3792-8. PMID 2891028 DOI: 10.1128/Mcb.7.10.3792 |
0.324 |
|
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