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Items: 1 to 50 of 89

1.

Developmental outcomes of children with Duarte galactosemia: exploring the bases of an apparent contradiction in the literature.

Fridovich-Keil JL, Carlock G, Coles CD, Lynch ME, Millians MN, Potter NL, Powell K, Richards P, Singh R, Wittenauer A.

Genet Med. 2019 Jun 4. doi: 10.1038/s41436-019-0567-1. [Epub ahead of print] No abstract available.

PMID:
31160755
2.

Duarte Variant Galactosemia.

Fridovich-Keil JL, Gambello MJ, Singh RH, Sharer JD.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2014 Dec 4 [updated 2019 May 23].

3.

Metabolic perturbations in classic galactosemia beyond the Leloir pathway: Insights from an untargeted metabolomic study.

Taylor Fischer S, Frederick AB, Tran V, Li S, Jones DP, Fridovich-Keil JL.

J Inherit Metab Dis. 2019 Mar;42(2):254-263. doi: 10.1002/jimd.12007. Epub 2019 Jan 22.

PMID:
30667068
4.

Developmental Outcomes in Duarte Galactosemia.

Carlock G, Fischer ST, Lynch ME, Potter NL, Coles CD, Epstein MP, Mulle JG, Kable JA, Barrett CE, Edwards SM, Wilson E, Fridovich-Keil JL.

Pediatrics. 2019 Jan;143(1). pii: e20182516. doi: 10.1542/peds.2018-2516.

PMID:
30593450
5.

Presentation, progression, and predictors of ovarian insufficiency in classic galactosemia.

Frederick AB, Zinsli AM, Carlock G, Conneely K, Fridovich-Keil JL.

J Inherit Metab Dis. 2018 Sep;41(5):785-790. doi: 10.1007/s10545-018-0177-0. Epub 2018 May 2.

6.

Low-level maternal exposure to nicotine associates with significant metabolic perturbations in second-trimester amniotic fluid.

Fischer ST, Lili LN, Li S, Tran VT, Stewart KB, Schwartz CE, Jones DP, Sherman SL, Fridovich-Keil JL.

Environ Int. 2017 Oct;107:227-234. doi: 10.1016/j.envint.2017.07.019. Epub 2017 Jul 30.

7.
8.

Drosophila melanogaster Models of Galactosemia.

Daenzer JM, Fridovich-Keil JL.

Curr Top Dev Biol. 2017;121:377-395. doi: 10.1016/bs.ctdb.2016.07.009. Epub 2016 Aug 3. Review.

9.

Acute and long-term outcomes in a Drosophila melanogaster model of classic galactosemia occur independently of galactose-1-phosphate accumulation.

Daenzer JM, Jumbo-Lucioni PP, Hopson ML, Garza KR, Ryan EL, Fridovich-Keil JL.

Dis Model Mech. 2016 Nov 1;9(11):1375-1382. Epub 2016 Aug 24.

10.

Gastrointestinal Health in Classic Galactosemia.

Shaw KA, Mulle JG, Epstein MP, Fridovich-Keil JL.

JIMD Rep. 2017;33:27-32. doi: 10.1007/8904_2016_575. Epub 2016 Jul 1.

11.

Genetic and functional studies reveal a novel noncoding variant in GALT associated with a false positive newborn screening result for galactosemia.

Liu Y, Sidhu A, Bean LH, Conway RL, Fridovich-Keil JL.

Clin Chim Acta. 2015 Jun 15;446:171-4. doi: 10.1016/j.cca.2015.04.030. Epub 2015 Apr 25.

12.

Developmental Outcomes of School-Age Children with Duarte Galactosemia: A Pilot Study.

Lynch ME, Potter NL, Coles CD, Fridovich-Keil JL.

JIMD Rep. 2015;19:75-84. doi: 10.1007/8904_2014_370. Epub 2015 Feb 15.

13.

A De Novo Variant in Galactose-1-P Uridylyltransferase (GALT) Leading to Classic Galactosemia.

Tran TT, Liu Y, Zwick ME, Ramachandran D, Cutler DJ, Huang X, Berry GT, Fridovich-Keil JL.

JIMD Rep. 2015;19:1-6. doi: 10.1007/8904_2014_349. Epub 2015 Feb 15.

14.

Erratum to: Newborn Screening for Galactosemia in the United States: Looking Back, Looking Around, and Looking Ahead.

Pyhtila BM, Shaw KA, Neumann SE, Fridovich-Keil JL.

JIMD Rep. 2015;15:133. doi: 10.1007/8904_2014_369. Epub 2014 Nov 8. No abstract available.

15.

Newborn screening for galactosemia in the United States: looking back, looking around, and looking ahead.

Pyhtila BM, Shaw KA, Neumann SE, Fridovich-Keil JL.

JIMD Rep. 2015;15:79-93. doi: 10.1007/8904_2014_302. Epub 2014 Apr 10. Erratum in: JIMD Rep. 2015;15:133.

16.

A brief overview of galactosemia newborn screening in the United States.

Pyhtila BM, Shaw KA, Neumann SE, Fridovich-Keil JL.

J Inherit Metab Dis. 2014 Jul;37(4):649-50. No abstract available.

PMID:
24658844
17.

Liquid chromatography-tandem mass spectrometry enzyme assay for UDP-galactose 4'-epimerase: use of fragment intensity ratio in differentiation of structural isomers.

Li Y, Huang X, Harmonay L, Liu Y, Kellogg MD, Fridovich-Keil JL, Berry GT.

Clin Chem. 2014 May;60(5):783-90. doi: 10.1373/clinchem.2013.219931. Epub 2014 Feb 27.

18.

Manganese-based superoxide dismutase mimics modify both acute and long-term outcome severity in a Drosophila melanogaster model of classic galactosemia.

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.

Antioxid Redox Signal. 2014 May 20;20(15):2361-71. doi: 10.1089/ars.2012.5122. Epub 2013 Jul 20.

19.

Modifiers of ovarian function in girls and women with classic galactosemia.

Spencer JB, Badik JR, Ryan EL, Gleason TJ, Broadaway KA, Epstein MP, Fridovich-Keil JL.

J Clin Endocrinol Metab. 2013 Jul;98(7):E1257-65. doi: 10.1210/jc.2013-1374. Epub 2013 May 20.

20.

Misfolding of galactose 1-phosphate uridylyltransferase can result in type I galactosemia.

McCorvie TJ, Gleason TJ, Fridovich-Keil JL, Timson DJ.

Biochim Biophys Acta. 2013 Aug;1832(8):1279-93. doi: 10.1016/j.bbadis.2013.04.004. Epub 2013 Apr 11.

21.

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. doi: 10.1007/8904_2012_153. Epub 2012 Jul 1.

22.

Cryptic residual GALT activity is a potential modifier of scholastic outcome in school age children with classic galactosemia.

Ryan EL, Lynch ME, Taddeo E, Gleason TJ, Epstein MP, Fridovich-Keil JL.

J Inherit Metab Dis. 2013 Nov;36(6):1049-61. doi: 10.1007/s10545-012-9575-x. Epub 2013 Jan 15.

23.

Oxidative stress contributes to outcome severity in a Drosophila melanogaster model of classic galactosemia.

Jumbo-Lucioni PP, Hopson ML, Hang D, Liang Y, Jones DP, Fridovich-Keil JL.

Dis Model Mech. 2013 Jan;6(1):84-94. doi: 10.1242/dmm.010207. Epub 2012 Jul 5.

24.

N- and O-linked glycosylation of total plasma glycoproteins in galactosemia.

Liu Y, Xia B, Gleason TJ, Castañeda U, He M, Berry GT, Fridovich-Keil JL.

Mol Genet Metab. 2012 Aug;106(4):442-54. doi: 10.1016/j.ymgme.2012.05.025. Epub 2012 Jun 12.

25.

Mediators of a long-term movement abnormality in a Drosophila melanogaster model of classic galactosemia.

Ryan EL, DuBoff B, Feany MB, Fridovich-Keil JL.

Dis Model Mech. 2012 Nov;5(6):796-803. doi: 10.1242/dmm.009050. Epub 2012 Jun 26.

26.

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. doi: 10.1371/journal.pgen.1002721. Epub 2012 May 24.

27.

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.

28.

Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes.

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, Schweitzer-Krantz S, Silao CL, Vela-Amieva M, Waisbren S, Fridovich-Keil JL.

J Inherit Metab Dis. 2012 Nov;35(6):1037-49. doi: 10.1007/s10545-012-9477-y. Epub 2012 Mar 27. Erratum in: J Inherit Metab Dis. 2012 Nov;35(6):1157. Scheweitzer-Krantz, Susanne [corrected to Schweitzer-Krantz, Susanne].

29.

Ovarian function in Duarte galactosemia.

Badik JR, Castañeda U, Gleason TJ, Spencer JB, Epstein MP, Ficicioglu C, Fitzgerald K, Fridovich-Keil JL.

Fertil Steril. 2011 Aug;96(2):469-473.e1. doi: 10.1016/j.fertnstert.2011.05.088. Epub 2011 Jun 29.

30.

In vivo and in vitro function of human UDP-galactose 4'-epimerase variants.

McCorvie TJ, Wasilenko J, Liu Y, Fridovich-Keil JL, Timson DJ.

Biochimie. 2011 Oct;93(10):1747-54. doi: 10.1016/j.biochi.2011.06.009. Epub 2011 Jun 17.

31.

Ovarian function in girls and women with GALT-deficiency galactosemia.

Fridovich-Keil JL, Gubbels CS, Spencer JB, Sanders RD, Land JA, Rubio-Gozalbo E.

J Inherit Metab Dis. 2011 Apr;34(2):357-66. doi: 10.1007/s10545-010-9221-4. Epub 2010 Oct 27. Review.

32.

A Drosophila melanogaster model of classic galactosemia.

Kushner RF, Ryan EL, Sefton JM, Sanders RD, Lucioni PJ, Moberg KH, Fridovich-Keil JL.

Dis Model Mech. 2010 Sep-Oct;3(9-10):618-27. doi: 10.1242/dmm.005041. Epub 2010 Jun 2.

33.

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 Sep-Oct;3(9-10):628-38. doi: 10.1242/dmm.005058. Epub 2010 Jun 2.

34.

Measures of ovarian function in galactosemia.

Fridovich-Keil JL, Sanders RD, Spencer JB, Epstein MP, Lustbader JW, Vardhana PA.

Fertil Steril. 2009 Aug;92(2):e30; author reply e31. doi: 10.1016/j.fertnstert.2009.06.016. No abstract available.

PMID:
19646597
35.

Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase.

Carney AE, Sanders RD, Garza KR, McGaha LA, Bean LJ, Coffee BW, Thomas JW, Cutler DJ, Kurtkaya NL, Fridovich-Keil JL.

Hum Mol Genet. 2009 May 1;18(9):1624-32. doi: 10.1093/hmg/ddp080. Epub 2009 Feb 18.

36.

Biomarkers of ovarian function in girls and women with classic galactosemia.

Sanders RD, Spencer JB, Epstein MP, Pollak SV, Vardhana PA, Lustbader JW, Fridovich-Keil JL.

Fertil Steril. 2009 Jul;92(1):344-51. doi: 10.1016/j.fertnstert.2008.04.060. Epub 2008 Aug 5.

37.

A yeast model reveals biochemical severity associated with each of three variant alleles of galactose-1P uridylyltransferase segregating in a single family.

Chhay JS, Openo KK, Eaton JS, Gentile M, Fridovich-Keil JL.

J Inherit Metab Dis. 2008 Feb;31(1):97-107. doi: 10.1007/s10545-007-0786-5. Epub 2008 Jan 22.

PMID:
18210213
38.

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
39.

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. Epub 2007 Nov 5.

40.

Functional overlap between conserved and diverged KH domains in Saccharomyces cerevisiae SCP160.

Brykailo MA, Corbett AH, Fridovich-Keil JL.

Nucleic Acids Res. 2007;35(4):1108-18. Epub 2007 Jan 30.

41.

Galactosemia: the good, the bad, and the unknown.

Fridovich-Keil JL.

J Cell Physiol. 2006 Dec;209(3):701-5. Review.

PMID:
17001680
42.

Relationship between UDP-galactose 4'-epimerase activity and galactose sensitivity in yeast.

Wasilenko J, Fridovich-Keil JL.

J Biol Chem. 2006 Mar 31;281(13):8443-9. Epub 2006 Feb 1.

43.

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.

44.

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.

45.

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
46.

Differential roles of the Leloir pathway enzymes and metabolites in defining galactose sensitivity in yeast.

Ross KL, Davis CN, Fridovich-Keil JL.

Mol Genet Metab. 2004 Sep-Oct;83(1-2):103-16.

PMID:
15464425
47.

Both KH and non-KH domain sequences are required for polyribosome association of Scp160p in yeast.

Li AM, Vargas CA, Brykailo MA, Openo KK, Corbett AH, Fridovich-Keil JL.

Nucleic Acids Res. 2004 Sep 8;32(16):4768-75. Print 2004.

48.

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 30;279(31):32796-803. Epub 2004 Jun 2.

49.

Genetic and biochemical interactions between SCP160 and EAP1 in yeast.

Mendelsohn BA, Li AM, Vargas CA, Riehman K, Watson A, Fridovich-Keil JL.

Nucleic Acids Res. 2003 Oct 15;31(20):5838-47.

50.

Scp160p associates with specific mRNAs in yeast.

Li AM, Watson A, Fridovich-Keil JL.

Nucleic Acids Res. 2003 Apr 1;31(7):1830-7.

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