BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

130 related articles for article (PubMed ID: 10884393)

  • 1. Covalent heterogeneity of the human enzyme galactose-1-phosphate uridylyltransferase.
    Henderson JM; Wells L; Fridovich-Keil JL
    J Biol Chem; 2000 Sep; 275(39):30088-91. PubMed ID: 10884393
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Functional consequence of substitutions at residue 171 in human galactose-1-phosphate uridylyltransferase.
    Crews C; Wilkinson KD; Wells L; Perkins C; Fridovich-Keil JL
    J Biol Chem; 2000 Jul; 275(30):22847-53. PubMed ID: 10811638
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Galactose breath testing distinguishes variant and severe galactose-1-phosphate uridyltransferase genotypes.
    Berry GT; Singh RH; Mazur AT; Guerrero N; Kennedy MJ; Chen J; Reynolds R; Palmieri MJ; Klein PD; Segal S; Elsas LJ
    Pediatr Res; 2000 Sep; 48(3):323-8. PubMed ID: 10960497
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase.
    McCorvie TJ; Kopec J; Pey AL; Fitzpatrick F; Patel D; Chalk R; Shrestha L; Yue WW
    Hum Mol Genet; 2016 Jun; 25(11):2234-2244. PubMed ID: 27005423
    [TBL] [Abstract][Full Text] [Related]  

  • 5. An extensive computational approach to analyze and characterize the functional mutations in the galactose-1-phosphate uridyl transferase (GALT) protein responsible for classical galactosemia.
    Kumar S U; Kumar D T; R S; Doss C GP; Zayed H
    Comput Biol Med; 2020 Feb; 117():103583. PubMed ID: 32072977
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A yeast expression system for human galactose-1-phosphate uridylyltransferase.
    Fridovich-Keil JL; Jinks-Robertson S
    Proc Natl Acad Sci U S A; 1993 Jan; 90(2):398-402. PubMed ID: 8421669
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Relationship between genotype, activity, and galactose sensitivity in yeast expressing patient alleles of human galactose-1-phosphate uridylyltransferase.
    Riehman K; Crews C; Fridovich-Keil JL
    J Biol Chem; 2001 Apr; 276(14):10634-40. PubMed ID: 11152465
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Galactosemia: when is it a newborn screening emergency?
    Berry GT
    Mol Genet Metab; 2012 May; 106(1):7-11. PubMed ID: 22483615
    [TBL] [Abstract][Full Text] [Related]  

  • 9. The structural and molecular biology of type I galactosemia: Enzymology of galactose 1-phosphate uridylyltransferase.
    McCorvie TJ; Timson DJ
    IUBMB Life; 2011 Sep; 63(9):694-700. PubMed ID: 21793161
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Characterization of the N314D allele of human galactose-1-phosphate uridylyltransferase using a yeast expression system.
    Fridovich-Keil JL; Quimby BB; Wells L; Mazur LA; Elsevier JP
    Biochem Mol Med; 1995 Dec; 56(2):121-30. PubMed ID: 8825075
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Functional analysis of the human galactose-1-phosphate uridyltransferase promoter in Duarte and LA variant galactosemia.
    Elsas LJ; Lai K; Saunders CJ; Langley SD
    Mol Genet Metab; 2001 Apr; 72(4):297-305. PubMed ID: 11286503
    [TBL] [Abstract][Full Text] [Related]  

  • 12. The biochemical role of glutamine 188 in human galactose-1-phosphate uridyltransferase.
    Lai K; Willis AC; Elsas LJ
    J Biol Chem; 1999 Mar; 274(10):6559-66. PubMed ID: 10037750
    [TBL] [Abstract][Full Text] [Related]  

  • 13. The structure of nucleotidylated histidine-166 of galactose-1-phosphate uridylyltransferase provides insight into phosphoryl group transfer.
    Wedekind JE; Frey PA; Rayment I
    Biochemistry; 1996 Sep; 35(36):11560-9. PubMed ID: 8794735
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Simulation of the Interactions of Arginine with Wild-Type GALT Enzyme and the Classic Galactosemia-Related Mutant p.Q188R by a Computational Approach.
    Verdino A; D'Urso G; Tammone C; Scafuri B; Catapano L; Marabotti A
    Molecules; 2021 Oct; 26(19):. PubMed ID: 34641605
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Biochemical and molecular characterization of GALT gene from Indian galactosemia patients: identification of 10 novel mutations and their structural and functional implications.
    Singh R; Thapa BR; Kaur G; Prasad R
    Clin Chim Acta; 2012 Dec; 414():191-6. PubMed ID: 23022339
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Roles of two conserved amino acid residues in the active site of galactose-1-phosphate uridylyltransferase: an essential serine and a nonessential cysteine.
    Geeganage S; Ling VW; Frey PA
    Biochemistry; 2000 May; 39(18):5397-404. PubMed ID: 10820011
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene.
    Tyfield L; Reichardt J; Fridovich-Keil J; Croke DT; Elsas LJ; Strobl W; Kozak L; Coskun T; Novelli G; Okano Y; Zekanowski C; Shin Y; Boleda MD
    Hum Mutat; 1999; 13(6):417-30. PubMed ID: 10408771
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Structure-function analyses of a common mutation in blacks with transferase-deficiency galactosemia.
    Lai K; Elsas LJ
    Mol Genet Metab; 2001; 74(1-2):264-72. PubMed ID: 11592823
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Novel mRNA-Based Therapy Reduces Toxic Galactose Metabolites and Overcomes Galactose Sensitivity in a Mouse Model of Classic Galactosemia.
    Balakrishnan B; An D; Nguyen V; DeAntonis C; Martini PGV; Lai K
    Mol Ther; 2020 Jan; 28(1):304-312. PubMed ID: 31604675
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Detection of common mutations in the GALT gene through ARMS.
    Mahmood U; Imran M; Naik SI; Cheema HA; Saeed A; Arshad M; Mahmood S
    Gene; 2012 Nov; 509(2):291-4. PubMed ID: 22963887
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.