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Profile

Judith Fridovich-Keil PhD

  • Department of Human Genetics
    Professor
  • (404) 727-3924
  • jfridov@emory.edu
  • Google Scholar
  • Lab website
  • 615 Michael Street
    Suite 345
    Atlanta, GA 30322
Head shot of Judith Fridovich-Keil

Overview

Roles of galactose metabolism in normal development and disease; interplay between genetic and environmental modifiers of birth outcomes.

The majority of our research addresses galactose metabolism and the role(s) galactose metabolites play in normal development and disease. Specifically, we are working to understand the mechanisms that underlie acute disease and long-term complications in the inherited galactosemias using a combination of human subjects studies and genetic model systems. We are also applying our model systems in translational work developing and testing novel strategies for improved intervention in classic galactosemia. In a separate line of research, we apply untargeted metabolomics to explore the interplay between genetic and environmental modifiers of birth outcomes.

Academic Appointment

  • Professor (Secondary Appt), Department of Biochemistry, Emory University School of Medicine
  • Professor (with tenure), Department of Human Genetics, Emory University School of Medicine

Education

Degrees

  • A.B. from Princeton University
  • PhD from Massachusetts Institute of Technology

Research

Focus

  • Galactose metabolism

    The focus of our research is galactose metabolism and the role(s) galactose metabolites play in normal development and disease. Our approaches include both large human subjects studies and work with fruit fly and rat genetic model systems. We also apply untargeted metabolomics to explore the interplay between genetic and environmental modifiers of birth outcomes.

Publications

  • Orthotopic Liver Transplantation in a Patient With GALTp.Ser135Leu/Null.
    JIMD Rep Volume: 66 Page(s): e70016
    05/01/2025 Authors: Simpson K; MacLeod EL; Clayton J; Yazigi NA; Rubio-Gozalbo ME; Fridovich-Keil JL; Berry GT; Ah Mew N
  • Patterns of Penetrance and Expressivity of Long-Term Outcomes in Classic Galactosemia.
    J Inherit Metab Dis Volume: 48 Page(s): e70020
    05/01/2025 Authors: Smith NH; Garrett OS; Hendrickson E; Druss JJ; Fridovich-Keil JL
  • Health and well-being of maturing adults with classic galactosemia.
    J Inherit Metab Dis Volume: 48 Page(s): e12786
    01/01/2025 Authors: Garrett OS; Druss JJ; Vos EN; Fu Y-TD; Lucia S; Greenstein PE; Bauer A; Sykut-Cegielska J; Stepien KM; Arbuckle C
  • 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.
    J Inherit Metab Dis Volume: 47 Page(s): 991 - 1000
    09/01/2024 Authors: Daenzer JMI; Druss JJ; Fridovich-Keil JL
  • Intrathecal Vector Delivery in Juvenile Rats via Lumbar Cistern Injection.
    J Vis Exp
    03/29/2024 Authors: Donsante A; Rasmussen SA; Fridovich-Keil JL
  • Long-term complications in classic galactosemia are not progressive.
    Mol Genet Metab Volume: 140 Page(s): 107708
    11/01/2023 Authors: Smith NH; Hendrickson ET; Garrett OS; Chernoff RA; Orloff DH; Druss JJ; Stettner NM; Paull NH; Fridovich-Keil JL
  • Grip strength in patients with galactosemia and in a galactose-1-phosphate uridylyltransferase (GALT)-null rat model.
    J Inherit Metab Dis Volume: 46 Page(s): 1131 - 1138
    11/01/2023 Authors: Druss JJ; Rudd Zhong Manis J; Potter NL; Fridovich-Keil JL
  • Racial and ethnic diversity of classic and clinical variant galactosemia in the United States.
    Mol Genet Metab Volume: 138 Page(s): 107542
    04/01/2023 Authors: Stettner NM; Cutler DJ; Fridovich-Keil JL
  • A multinational study of acute and long-term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C>T) variant of GALT.
    J Inherit Metab Dis Volume: 45 Page(s): 1106 - 1117
    11/01/2022 Authors: Katler QS; Stepien KM; Paull N; Patel S; Adams M; Balci MC; Berry GT; Bosch AM; DeLaO A; Demirbas D
  • Neonatal GALT gene replacement offers metabolic and phenotypic correction through early adulthood in a rat model of classic galactosemia.
    J Inherit Metab Dis Volume: 45 Page(s): 203 - 214
    03/01/2022 Authors: Daenzer JMI; Rasmussen SA; Patel S; McKenna J; Fridovich-Keil JL
  • Acute and early developmental outcomes of children with Duarte galactosemia.
    JIMD Rep Volume: 63 Page(s): 101 - 106
    01/01/2022 Authors: Fridovich-Keil JL; Carlock G; Patel S; Potter NL; Coles CD
  • DAB-quant: An open-source digital system for quantifying immunohistochemical staining with 3,3'-diaminobenzidine (DAB).
    PLoS One Volume: 17 Page(s): e0271593
    01/01/2022 Authors: Patel S; Fridovich-Keil S; Rasmussen SA; Fridovich-Keil JL
  • Pathophysiology of long-term complications in classic galactosemia: What we do and do not know.
    Mol Genet Metab Volume: 137 Page(s): 33 - 39
    01/01/2022 Authors: Fridovich-Keil JL; Berry GT
  • Hand fine motor control in classic galactosemia.
    J Inherit Metab Dis Volume: 44 Page(s): 871 - 878
    07/01/2021 Authors: MacWilliams J; Patel S; Carlock G; Vest S; Potter NL; Fridovich-Keil JL
  • A pilot study of neonatal GALT gene replacement using AAV9 dramatically lowers galactose metabolites in blood, liver, and brain and minimizes cataracts in GALT-null rat pups.
    J Inherit Metab Dis Volume: 44 Page(s): 272 - 281
    01/01/2021 Authors: Rasmussen SA; Daenzer JMI; Fridovich-Keil JL
  • A galactose-1-phosphate uridylyltransferase-null rat model of classic galactosemia mimics relevant patient outcomes and reveals tissue-specific and longitudinal differences in galactose metabolism.
    J Inherit Metab Dis Volume: 43 Page(s): 518 - 528
    05/01/2020 Authors: Rasmussen SA; Daenzer JMI; MacWilliams JA; Head ST; Williams MB; Geurts AM; Schroeder JP; Weinshenker D; Fridovich-Keil JL
  • Developmental outcomes of children with Duarte galactosemia: exploring the bases of an apparent contradiction in the literature.
    Genet Med Volume: 21 Page(s): 2683 - 2685
    12/01/2019 Authors: Fridovich-Keil JL; Carlock G; Coles CD; Lynch ME; Millians MN; Potter NL; Powell K; Richards P; Singh R; Wittenauer A
  • Metabolic perturbations in classic galactosemia beyond the Leloir pathway: Insights from an untargeted metabolomic study.
    J Inherit Metab Dis Volume: 42 Page(s): 254 - 263
    03/01/2019 Authors: Taylor Fischer S; Frederick AB; Tran V; Li S; Jones DP; Fridovich-Keil JL
  • Developmental Outcomes in Duarte Galactosemia.
    Pediatrics Volume: 143
    01/01/2019 Authors: Carlock G; Fischer ST; Lynch ME; Potter NL; Coles CD; Epstein MP; Mulle JG; Kable JA; Barrett CE; Edwards SM
  • Presentation, progression, and predictors of ovarian insufficiency in classic galactosemia.
    J Inherit Metab Dis Volume: 41 Page(s): 785 - 790
    09/01/2018 Authors: Frederick AB; Zinsli AM; Carlock G; Conneely K; Fridovich-Keil JL
  • METABOLIC PERTURBATIONS IN SECOND-TRIMESTER ARE AMNIOTIC FLUID ASSOCIATED WITH LOW-LEVEL MATERNAL EXPOSURE TO NICOTINE
    Volume: 176 Page(s): 1498 - 1499
    06/01/2018 Authors: Schwartz CE; Fischer T; Lili L; Li S; ViLinh T; Stewart K; Jones D; Sherman S; Fridovich-Keil J
  • 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.
    J Inherit Metab Dis Volume: 40 Page(s): 813 - 821
    11/01/2017 Authors: Frederick AB; Cutler DJ; Fridovich-Keil JL
  • Low-level maternal exposure to nicotine associates with significant metabolic perturbations in second-trimester amniotic fluid.
    Environ Int Volume: 107 Page(s): 227 - 234
    10/01/2017 Authors: Fischer ST; Lili LN; Li S; Tran VT; Stewart KB; Schwartz CE; Jones DP; Sherman SL; Fridovich-Keil JL
  • Drosophila melanogaster Models of Galactosemia.
    Curr Top Dev Biol Volume: 121 Page(s): 377 - 395
    01/01/2017 Authors: Daenzer JMI; Fridovich-Keil JL
  • Gastrointestinal Health in Classic Galactosemia.
    JIMD Rep Volume: 33 Page(s): 27 - 32
    01/01/2017 Authors: Shaw KA; Mulle JG; Epstein MP; Fridovich-Keil JL
  • Acute and long-term outcomes in a Drosophila melanogaster model of classic galactosemia occur independently of galactose-1-phosphate accumulation.
    Dis Model Mech Volume: 9 Page(s): 1375 - 1382
    11/01/2016 Authors: Daenzer JMI; Jumbo-Lucioni PP; Hopson ML; Garza KR; Ryan EL; Fridovich-Keil JL
  • Genetic and functional studies reveal a novel noncoding variant in GALT associated with a false positive newborn screening result for galactosemia.
    Clin Chim Acta Volume: 446 Page(s): 171 - 174
    06/15/2015 Authors: Liu Y; Sidhu A; Bean LH; Conway RL; Fridovich-Keil JL
  • Newborn screening for galactosemia in the United States: looking back, looking around, and looking ahead.
    JIMD Rep Volume: 15 Page(s): 79 - 93
    01/01/2015 Authors: Pyhtila BM; Shaw KA; Neumann SE; Fridovich-Keil JL
  • A De Novo Variant in Galactose-1-P Uridylyltransferase (GALT) Leading to Classic Galactosemia.
    JIMD Rep Volume: 19 Page(s): 1 - 6
    01/01/2015 Authors: Tran T-TCV; Liu Y; Zwick ME; Ramachandran D; Cutler DJ; Huang X; Berry GT; Fridovich-Keil JL
  • Developmental Outcomes of School-Age Children with Duarte Galactosemia: A Pilot Study.
    JIMD Rep Volume: 19 Page(s): 75 - 84
    01/01/2015 Authors: Lynch ME; Potter NL; Coles CD; Fridovich-Keil JL
  • Erratum to: Newborn Screening for Galactosemia in the United States: Looking Back, Looking Around, and Looking Ahead.
    JIMD Rep Volume: 15 Page(s): 133
    01/01/2015 Authors: Pyhtila BM; Shaw KA; Neumann SE; Fridovich-Keil JL
  • A brief overview of galactosemia newborn screening in the United States.
    J Inherit Metab Dis Volume: 37 Page(s): 649 - 650
    07/01/2014 Authors: Pyhtila BM; Shaw KA; Neumann SE; Fridovich-Keil JL
  • Growth and Development of Children and Young Adults with Classic Galactosemia
    Volume: 35
    06/01/2014 Authors: Butler-Cephas AM; Broadaway KA; Epstein MP; Ditkoff EL; Fridovich-Keil JL
  • Manganese-based superoxide dismutase mimics modify both acute and long-term outcome severity in a Drosophila melanogaster model of classic galactosemia.
    Antioxid Redox Signal Volume: 20 Page(s): 2361 - 2371
    05/20/2014 Authors: Jumbo-Lucioni PP; Ryan EL; Hopson ML; Bishop HM; Weitner T; Tovmasyan A; Spasojevic I; Batinic-Haberle I; Liang Y; Jones DP
  • Liquid chromatography-tandem mass spectrometry enzyme assay for UDP-galactose 4'-epimerase: use of fragment intensity ratio in differentiation of structural isomers.
    Clin Chem Volume: 60 Page(s): 783 - 790
    05/01/2014 Authors: Li Y; Huang X; Harmonay L; Liu Y; Kellogg MD; Fridovich-Keil JL; Berry GT
  • Cryptic residual GALT activity is a potential modifier of scholastic outcome in school age children with classic galactosemia.
    J Inherit Metab Dis Volume: 36 Page(s): 1049 - 1061
    11/01/2013 Authors: Ryan EL; Lynch ME; Taddeo E; Gleason TJ; Epstein MP; Fridovich-Keil JL
  • Misfolding of galactose 1-phosphate uridylyltransferase can result in type I galactosemia.
    Biochim Biophys Acta Volume: 1832 Page(s): 1279 - 1293
    08/01/2013 Authors: McCorvie TJ; Gleason TJ; Fridovich-Keil JL; Timson DJ
  • Modifiers of ovarian function in girls and women with classic galactosemia.
    J Clin Endocrinol Metab Volume: 98 Page(s): E1257 - E1265
    07/01/2013 Authors: Spencer JB; Badik JR; Ryan EL; Gleason TJ; Broadaway KA; Epstein MP; Fridovich-Keil JL
  • Expression of GALT modulates glucocerebrosidase enzyme activity
    Volume: 108 Page(s): S89 - S89
    02/01/2013 Authors: Tamargo R; Velayati A; Trivedi N; Liu Y; Fridovich-Keil J; Westbroek W; Martin S; Sidransky E; Goldin E
  • Oxidative stress contributes to outcome severity in a Drosophila melanogaster model of classic galactosemia.
    Dis Model Mech Volume: 6 Page(s): 84 - 94
    01/01/2013 Authors: Jumbo-Lucioni PP; Hopson ML; Hang D; Liang Y; Jones DP; Fridovich-Keil JL
  • A Case Study of Monozygotic Twins Apparently Homozygous for a Novel Variant of UDP-Galactose 4'-epimerase (GALE) : A Complex Case of Variant GALE.
    JIMD Rep Volume: 7 Page(s): 89 - 98
    01/01/2013 Authors: Liu Y; Bentler K; Coffee B; Chhay JS; Sarafoglou K; Fridovich-Keil JL
  • Mediators of a long-term movement abnormality in a Drosophila melanogaster model of classic galactosemia.
    Dis Model Mech Volume: 5 Page(s): 796 - 803
    11/01/2012 Authors: Ryan EL; DuBoff B; Feany MB; Fridovich-Keil JL
  • Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes.
    J Inherit Metab Dis Volume: 35 Page(s): 1037 - 1049
    11/01/2012 Authors: Jumbo-Lucioni PP; Garber K; Kiel J; Baric I; Berry GT; Bosch A; Burlina A; Chiesa A; Pico MLC; Estrada SC
  • Altered cofactor binding affects stability and activity of human UDP-galactose 4'-epimerase: implications for type III galactosemia.
    Biochim Biophys Acta Volume: 1822 Page(s): 1516 - 1526
    10/01/2012 Authors: McCorvie TJ; Liu Y; Frazer A; Gleason TJ; Fridovich-Keil JL; Timson DJ
  • N- and O-linked glycosylation of total plasma glycoproteins in galactosemia.
    Mol Genet Metab Volume: 106 Page(s): 442 - 454
    08/01/2012 Authors: Liu Y; Xia B; Gleason TJ; Castaeda U; He M; Berry GT; Fridovich-Keil JL
  • UDP-galactose 4'-epimerase activities toward UDP-Gal and UDP-GalNAc play different roles in the development of Drosophila melanogaster.
    PLoS Genet Volume: 8 Page(s): e1002721
    01/01/2012 Authors: Daenzer JMI; Sanders RD; Hang D; Fridovich-Keil JL
  • The virtual diagnostic laboratory: a new way of teaching undergraduate medical students about genetic testing.
    Genet Med Volume: 13 Page(s): 973 - 977
    11/01/2011 Authors: Bean LJ; Fridovich-Keil J; Hegde M; Rudd MK; Garber KB
  • In vivo and invitro function of human UDP-galactose 4'-epimerase variants.
    Biochimie Volume: 93 Page(s): 1747 - 1754
    10/01/2011 Authors: McCorvie TJ; Wasilenko J; Liu Y; Fridovich-Keil JL; Timson DJ
  • Ovarian function in Duarte galactosemia.
    Fertil Steril Volume: 96 Page(s): 469 - 473.e1
    08/01/2011 Authors: Badik JR; Castaeda U; Gleason TJ; Spencer JB; Epstein MP; Ficicioglu C; Fitzgerald K; Fridovich-Keil JL
  • Ovarian function in girls and women with GALT-deficiency galactosemia.
    J Inherit Metab Dis Volume: 34 Page(s): 357 - 366
    04/01/2011 Authors: Fridovich-Keil JL; Gubbels CS; Spencer JB; Sanders RD; Land JA; Rubio-Gozalbo E
  • A Drosophila melanogaster model of classic galactosemia.
    Dis Model Mech Volume: 3 Page(s): 618 - 627
    01/01/2010 Authors: Kushner RF; Ryan EL; Sefton JMI; Sanders RD; Lucioni PJ; Moberg KH; Fridovich-Keil JL
  • UDP-galactose 4' epimerase (GALE) is essential for development of Drosophila melanogaster.
    Dis Model Mech Volume: 3 Page(s): 628 - 638
    01/01/2010 Authors: Sanders RD; Sefton JMI; Moberg KH; Fridovich-Keil JL
  • Measures of ovarian function in galactosemia.
    Fertil Steril Volume: 92 Page(s): e30
    08/01/2009 Authors: Fridovich-Keil JL; Sanders RD; Spencer JB; Epstein MP; Lustbader JW; Vardhana PA
  • Biomarkers of ovarian function in girls and women with classic galactosemia.
    Fertil Steril Volume: 92 Page(s): 344 - 351
    07/01/2009 Authors: Sanders RD; Spencer JB; Epstein MP; Pollak SV; Vardhana PA; Lustbader JW; Fridovich-Keil JL
  • Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase.
    Hum Mol Genet Volume: 18 Page(s): 1624 - 1632
    05/01/2009 Authors: Carney AE; Sanders RD; Garza KR; McGaha LA; Bean LJH; Coffee BW; Thomas JW; Cutler DJ; Kurtkaya NL; 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).
    Mol Genet Metab Volume: 93 Page(s): 160 - 171
    02/01/2008 Authors: Mumma JO; Chhay JS; Ross KL; Eaton JS; Newell-Litwa KA; 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.
    J Inherit Metab Dis Volume: 31 Page(s): 97 - 107
    02/01/2008 Authors: Chhay JS; Openo KK; Eaton JS; Gentile M; Fridovich-Keil JL
  • Analysis of UDP-galactose 4'-epimerase mutations associated with the intermediate form of type III galactosaemia.
    J Inherit Metab Dis Volume: 31 Page(s): 108 - 116
    02/01/2008 Authors: Chhay JS; Vargas CA; McCorvie TJ; Fridovich-Keil JL; Timson DJ
  • Functional overlap between conserved and diverged KH domains in Saccharomyces cerevisiae SCP160.
    Nucleic Acids Res Volume: 35 Page(s): 1108 - 1118
    01/01/2007 Authors: Brykailo MA; Corbett AH; Fridovich-Keil JL
  • Analysis of a predicted nuclear localization signal: implications for the intracellular localization and function of the Saccharomyces cerevisiae RNA-binding protein Scp160.
    Nucleic Acids Res Volume: 35 Page(s): 6862 - 6869
    01/01/2007 Authors: Brykailo MA; McLane LM; Fridovich-Keil J; Corbett AH
  • Galactosemia: the good, the bad, and the unknown.
    J Cell Physiol Volume: 209 Page(s): 701 - 705
    12/01/2006 Authors: Fridovich-Keil JL
  • A direct, non-radioactive HPLC assay of hemolysate galactose-1-phosphate uridylyltransferase activity
    JOURNAL OF INHERITED METABOLIC DISEASE Volume: 29 Page(s): 85 - 85
    08/01/2006 Authors: Yu C; Zhou H; Sanders R; Muralidharan K; Fridovich-Keil J
  • Relationship between UDP-galactose 4'-epimerase activity and galactose sensitivity in yeast.
    J Biol Chem Volume: 281 Page(s): 8443 - 8449
    03/31/2006 Authors: Wasilenko J; Fridovich-Keil JL
  • Transferase and epimerase galactosemias are metabolically distinct disorders
    Volume: 20 Page(s): A97 - A97
    03/06/2006 Authors: Ross KL; Fridovich-Keil JL
  • Epimerase-deficiency galactosemia is not a binary condition.
    Am J Hum Genet Volume: 78 Page(s): 89 - 102
    01/01/2006 Authors: Openo KK; Schulz JM; Vargas CA; Orton CS; Epstein MP; Schnur RE; Scaglia F; Berry GT; Gottesman GS; Ficicioglu C
  • Mediators of galactose sensitivity in UDP-galactose 4'-epimerase-impaired mammalian cells.
    J Biol Chem Volume: 280 Page(s): 13493 - 13502
    04/08/2005 Authors: Schulz JM; Ross KL; Malmstrom K; Krieger M; Fridovich-Keil JL
  • Functional characterization of the K257R and G319E-hGALE alleles found in patients with ostensibly peripheral epimerase deficiency galactosemia.
    Mol Genet Metab Volume: 84 Page(s): 32 - 38
    01/01/2005 Authors: Wasilenko J; Lucas ME; Thoden JB; Holden HM; Fridovich-Keil JL
  • Determinants of function and substrate specificity in human UDP-galactose 4'-epimerase.
    J Biol Chem Volume: 279 Page(s): 32796 - 32803
    07/30/2004 Authors: Schulz JM; Watson AL; Sanders R; Ross KL; Thoden JB; Holden HM; Fridovich-Keil JL
  • Both KH and non-KH domain sequences are required for polyribosome association of Scp160p in yeast.
    Nucleic Acids Res Volume: 32 Page(s): 4768 - 4775
    01/01/2004 Authors: Li A-M; Vargas CA; Brykailo MA; Openo KK; Corbett AH; Fridovich-Keil JL
  • Differential roles of the Leloir pathway enzymes and metabolites in defining galactose sensitivity in yeast.
    Mol Genet Metab Volume: 83 Page(s): 103 - 116
    01/01/2004 Authors: Ross KL; Davis CN; Fridovich-Keil JL
  • Relationship between metabolites, growth and galactose exposure in yeast deficient in the Leloir pathway enzymes.
    Volume: 73 Page(s): 454 - 454
    11/01/2003 Authors: Ross KL; Fridovich-Keil JL
  • Genetic and biochemical interactions between SCP160 and EAP1 in yeast.
    Nucleic Acids Res Volume: 31 Page(s): 5838 - 5847
    10/15/2003 Authors: Mendelsohn BA; Li A-M; Vargas CA; Riehman K; Watson A; Fridovich-Keil JL
  • Scp160p associates with specific mRNAs in yeast.
    Nucleic Acids Res Volume: 31 Page(s): 1830 - 1837
    04/01/2003 Authors: Li A-M; Watson A; Fridovich-Keil JL
  • Impact of patient mutations on heterodimer formation and function in human galactose-1-P uridylyltransferase.
    Mol Genet Metab Volume: 76 Page(s): 319 - 326
    08/01/2002 Authors: Christacos NC; Fridovich-Keil JL
  • Structural analysis of the Y299C mutant of Escherichia coli UDP-galactose 4-epimerase. Teaching an old dog new tricks.
    J Biol Chem Volume: 277 Page(s): 27528 - 27534
    07/26/2002 Authors: Thoden JB; Henderson JM; Fridovich-Keil JL; Holden HM
  • A PCR-based method for detecting known mutations in the human UDP galactose-4'-epimerase gene associated with epimerase-deficiency galactosemia.
    Clin Genet Volume: 60 Page(s): 350 - 355
    11/01/2001 Authors: Henderson JM; Huguenin SM; Cowan TM; Fridovich-Keil JL
  • The brefeldin A resistance protein Bfr1p is a component of polyribosome-associated mRNP complexes in yeast.
    Nucleic Acids Res Volume: 29 Page(s): 2567 - 2574
    06/15/2001 Authors: Lang BD; Li Am; Black-Brewster HD; Fridovich-Keil JL
  • Molecular basis for severe epimerase deficiency galactosemia. X-ray structure of the human V94m-substituted UDP-galactose 4-epimerase.
    J Biol Chem Volume: 276 Page(s): 20617 - 20623
    06/08/2001 Authors: Thoden JB; Wohlers TM; Fridovich-Keil JL; Holden HM
  • Human UDP-galactose 4-epimerase. Accommodation of UDP-N-acetylglucosamine within the active site.
    J Biol Chem Volume: 276 Page(s): 15131 - 15136
    05/04/2001 Authors: Thoden JB; Wohlers TM; Fridovich-Keil JL; Holden HM
  • Relationship between genotype, activity, and galactose sensitivity in yeast expressing patient alleles of human galactose-1-phosphate uridylyltransferase.
    J Biol Chem Volume: 276 Page(s): 10634 - 10640
    04/06/2001 Authors: Riehman K; Crews C; Fridovich-Keil JL
  • Studies of the V94M-substituted human UDPgalactose-4-epimerase enzyme associated with generalized epimerase-deficiency galactosaemia.
    J Inherit Metab Dis Volume: 23 Page(s): 713 - 729
    11/01/2000 Authors: Wohlers TM; Fridovich-Keil JL
  • Subcellular localization of galactose-1-P uridylyltransferase in the yeast Saccharomyces cerevisiae.
    AMERICAN JOURNAL OF HUMAN GENETICS Volume: 67 Page(s): 278 - 278
    10/01/2000 Authors: Christacos NC; Marson M; Wells L; Riehman K; Fridovich-Keil JL
  • Covalent heterogeneity of the human enzyme galactose-1-phosphate uridylyltransferase.
    J Biol Chem Volume: 275 Page(s): 30088 - 30091
    09/29/2000 Authors: Henderson JM; Wells L; Fridovich-Keil JL
  • Subcellular localization of galactose-1-phosphate uridylyltransferase in the yeast Saccharomyces cerevisiae.
    Mol Genet Metab Volume: 70 Page(s): 272 - 280
    08/01/2000 Authors: Christacos NC; Marson MJ; Wells L; Riehman K; Fridovich-Keil JL
  • Functional consequence of substitutions at residue 171 in human galactose-1-phosphate uridylyltransferase.
    J Biol Chem Volume: 275 Page(s): 22847 - 22853
    07/28/2000 Authors: Crews C; Wilkinson KD; Wells L; Perkins C; Fridovich-Keil JL
  • Crystallographic evidence for Tyr 157 functioning as the active site base in human UDP-galactose 4-epimerase.
    Biochemistry Volume: 39 Page(s): 5691 - 5701
    05/16/2000 Authors: Thoden JB; Wohlers TM; Fridovich-Keil JL; Holden HM
  • Scp160p, a multiple KH-domain protein, is a component of mRNP complexes in yeast.
    Nucleic Acids Res Volume: 28 Page(s): 1576 - 1584
    04/01/2000 Authors: Lang BD; Fridovich-Keil JL
  • Identification and characterization of a mutation, in the human UDP-galactose-4-epimerase gene, associated with generalized epimerase-deficiency galactosemia.
    Am J Hum Genet Volume: 64 Page(s): 462 - 470
    02/01/1999 Authors: Wohlers TM; Christacos NC; Harreman MT; Fridovich-Keil JL
  • Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene.
    Hum Mutat Volume: 13 Page(s): 417 - 430
    01/01/1999 Authors: Tyfield L; Reichardt J; Fridovich-Keil J; Croke DT; Elsas LJ; Strobl W; Kozak L; Coskun T; Novelli G; Okano Y
  • Characterization of two mutations associated with epimerase-deficiency galactosemia, by use of a yeast expression system for human UDP-galactose-4-epimerase.
    Am J Hum Genet Volume: 61 Page(s): 590 - 598
    09/01/1997 Authors: Quimby BB; Alano A; Almashanu S; DeSandro AM; Cowan TM; Fridovich-Keil JL
  • Biochemical characterization of the S135L allele of galactose-1-phosphate uridylyltransferase associated with galactosaemia.
    J Inherit Metab Dis Volume: 20 Page(s): 633 - 642
    09/01/1997 Authors: Wells L; Fridovich-Keil JL
  • Genetic approaches to biochemical questions: insights into the functional requirements of proline 185 in the active site of human galactose-1-phosphate uridylyltransferase.
    SAAS Bull Biochem Biotechnol Volume: 10 Page(s): 43 - 48
    01/01/1997 Authors: Quimby BB; Fridovich-Keil JL
  • The Q188R mutation in human galactose-1-phosphate uridylyltransferase acts as a partial dominant negative.
    J Biol Chem Volume: 271 Page(s): 32002 - 32007
    12/13/1996 Authors: Elsevier JP; Fridovich-Keil JL
  • Functional requirements of the active site position 185 in the human enzyme galactose-1-phosphate uridylyltransferase.
    J Biol Chem Volume: 271 Page(s): 26835 - 26842
    10/25/1996 Authors: Quimby BB; Wells L; Wilkinson KD; Fridovich-Keil JL
  • Heterodimer formation and activity in the human enzyme galactose-1-phosphate uridylyltransferase.
    Proc Natl Acad Sci U S A Volume: 93 Page(s): 7166 - 7171
    07/09/1996 Authors: Elsevier JP; Wells L; Quimby BB; Fridovich-Keil JL
  • The yeast, Saccharomyces cerevisiae, as a model system for the study of human genetic disease.
    SAAS Bull Biochem Biotechnol Volume: 9 Page(s): 83 - 88
    01/01/1996 Authors: Wells L; Fridovich-Keil JL
  • Characterization of the N314D allele of human galactose-1-phosphate uridylyltransferase using a yeast expression system.
    Biochem Mol Med Volume: 56 Page(s): 121 - 130
    12/01/1995 Authors: Fridovich-Keil JL; Quimby BB; Wells L; Mazur LA; Elsevier JP
  • Mutations in galactosemia.
    Am J Hum Genet Volume: 57 Page(s): 978 - 981
    10/01/1995 Authors: Reichardt JK
  • Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes.
    Am J Hum Genet Volume: 56 Page(s): 630 - 639
    03/01/1995 Authors: Elsas LJ; Langley S; Steele E; Evinger J; Fridovich-Keil JL; Brown A; Singh R; Fernhoff P; Hjelm LN; Dembure PP
  • Identification and functional analysis of three distinct mutations in the human galactose-1-phosphate uridyltransferase gene associated with galactosemia in a single family.
    Am J Hum Genet Volume: 56 Page(s): 640 - 646
    03/01/1995 Authors: Fridovich-Keil JL; Langley SD; Mazur LA; Lennon JC; Dembure PP; Elsas JL
  • Serum-responsive expression from the murine thymidine kinase promoter is specifically disrupted in a transformed cell line.
    Cell Growth Differ Volume: 5 Page(s): 1137 - 1143
    10/01/1994 Authors: Bradley DW; Fridovich-Keil JL; Gudas JM; Pardee AB
  • A common mutation associated with the Duarte galactosemia allele.
    Am J Hum Genet Volume: 54 Page(s): 1030 - 1036
    06/01/1994 Authors: Elsas LJ; Dembure PP; Langley S; Paulk EM; Hjelm LN; Fridovich-Keil J
  • DNA sequences required for serum-responsive regulation of expression from the mouse thymidine kinase promoter.
    Cell Growth Differ Volume: 4 Page(s): 679 - 687
    08/01/1993 Authors: Fridovich-Keil JL; Markell PJ; Gudas JM; Pardee AB
  • Posttranscriptional control of thymidine kinase messenger RNA accumulation in cells released from G0-G1 phase blocks.
    Cell Growth Differ Volume: 4 Page(s): 421 - 430
    05/01/1993 Authors: Gudas JM; Fridovich-Keil JL; Pardee AB
  • A yeast expression system for human galactose-1-phosphate uridylyltransferase.
    Proc Natl Acad Sci U S A Volume: 90 Page(s): 398 - 402
    01/15/1993 Authors: Fridovich-Keil JL; Jinks-Robertson S
  • Down-regulation of tumor necrosis factor expression by pentoxifylline in cancer patients: a pilot study.
    Cancer Immunol Immunother Volume: 36 Page(s): 57 - 60
    01/01/1993 Authors: Dezube BJ; Sherman ML; Fridovich-Keil JL; Allen-Ryan J; Pardee AB
  • The human galactose-1-phosphate uridyltransferase gene.
    Genomics Volume: 14 Page(s): 474 - 480
    10/01/1992 Authors: Leslie ND; Immerman EB; Flach JE; Florez M; Fridovich-Keil JL; Elsas LJ
  • Characterization of the murine thymidine kinase-encoding gene and analysis of transcription start point heterogeneity.
    Gene Volume: 118 Page(s): 205 - 216
    09/10/1992 Authors: Gudas JM; Fridovich-Keil JL; Datta MW; Bryan J; Pardee AB
  • Improved expression vectors for eukaryotic promoter/enhancer studies.
    Biotechniques Volume: 11 Page(s): 572 - 579
    11/01/1991 Authors: Fridovich-Keil JL; Gudas JM; Bryan IB; Pardee AB
  • Inducible proteins binding to the murine thymidine kinase promoter in late G1/S phase.
    Proc Natl Acad Sci U S A Volume: 88 Page(s): 1157 - 1161
    02/15/1991 Authors: Dou QP; Fridovich-Keil JL; Pardee AB
  • Growth-responsive expression from the murine thymidine kinase promoter: genetic analysis of DNA sequences.
    Cell Growth Differ Volume: 2 Page(s): 67 - 76
    02/01/1991 Authors: Fridovich-Keil JL; Gudas JM; Dou QP; Bouvard I; Pardee AB
  • Transformed and nontransformed cells differ in stability and cell cycle regulation of a binding activity to the murine thymidine kinase promoter.
    Proc Natl Acad Sci U S A Volume: 87 Page(s): 9310 - 9314
    12/01/1990 Authors: Bradley DW; Dou QP; Fridovich-Keil JL; Pardee AB
  • Progression through the cell cycle: an overview.
    Am Rev Respir Dis Volume: 142 Page(s): S3 - S6
    12/01/1990 Authors: Fridovich-Keil JL; Hansen LJ; Keyomarsi K; Pardee AB
  • Pentoxifylline and wellbeing in patients with cancer.
    Lancet Volume: 335 Page(s): 662
    03/17/1990 Authors: Dezube BJ; Fridovich-Keil JL; Bouvard I; Lange RF; Pardee AB
  • Domains of beta-tubulin essential for conserved functions in vivo.
    Mol Cell Biol Volume: 7 Page(s): 3792 - 3798
    10/01/1987 Authors: Fridovich-Keil JL; Bond JF; Solomon F
  • A chicken-yeast chimeric beta-tubulin protein is incorporated into mouse microtubules in vivo.
    Cell Volume: 44 Page(s): 461 - 468
    02/14/1986 Authors: Bond JF; Fridovich-Keil JL; Pillus L; Mulligan RC; Solomon F
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