BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

136 related articles for article (PubMed ID: 192504)

  • 1. Heterogeneity in maple syrup urine disease: aspects of cofactor requirement and complementation in cultured fibroblasts.
    Singh S; Willers I; Goedde HW
    Clin Genet; 1977 Apr; 11(4):277-84. PubMed ID: 192504
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Maple syrup urine disease: analysis of branched chain ketoacid decarboxylation in cultured fibroblasts.
    Wendel U; Wentrup H; Rüdiger HW
    Pediatr Res; 1975 Sep; 9(9):709-17. PubMed ID: 1202420
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Thiamin-responsive maple-syrup-urine disease: decreased affinity of the mutant branched-chain alpha-keto acid dehydrogenase for alpha-ketoisovalerate and thiamin pyrophosphate.
    Chuang DT; Ku LS; Cox RP
    Proc Natl Acad Sci U S A; 1982 May; 79(10):3300-4. PubMed ID: 6954481
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Biochemical basis of thiamin-responsive maple syrup urine disease.
    Chuang DT; Ku LS; Cox RP
    Trans Assoc Am Physicians; 1982; 95():196-204. PubMed ID: 7182976
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Branched chain alpha-keto acid metabolism. I. Isolation, purification, and partial characterization of bovine liver alpha-ketoisocaproic:alpha-keto-beta-methylvaleric acid dehydrogenase.
    Connelly JL; Danner DJ; Bowden JA
    J Biol Chem; 1968 Mar; 243(6):1198-203. PubMed ID: 5689906
    [No Abstract]   [Full Text] [Related]  

  • 6. Maple syrup urine disease: branched-chain keto acid decarboxylation in fibroblasts as measured with amino acids and keto acids.
    Dancis J; Hutzler J; Cox RP
    Am J Hum Genet; 1977 May; 29(3):272-9. PubMed ID: 868873
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Evidence that the branched-chain alpha-keto acids accumulating in maple syrup urine disease induce morphological alterations and death in cultured astrocytes from rat cerebral cortex.
    Funchal C; Gottfried C; De Almeida LM; Wajner M; Pessoa-Pureur R
    Glia; 2004 Nov; 48(3):230-40. PubMed ID: 15390119
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Effect of the branched-chain alpha-keto acids accumulating in maple syrup urine disease on S100B release from glial cells.
    Funchal C; Tramontina F; Quincozes dos Santos A; Fraga de Souza D; Gonçalves CA; Pessoa-Pureur R; Wajner M
    J Neurol Sci; 2007 Sep; 260(1-2):87-94. PubMed ID: 17499767
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A distinct variant of intermediate maple syrup urine disease.
    Gonzalez-Rios MC; Chuang DT; Cox RP; Schmidt K; Knopf K; Packman S
    Clin Genet; 1985 Feb; 27(2):153-9. PubMed ID: 3978850
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Branched-chain alpha-keto acids isolated as oxime derivatives: relationship to the corresponding hydroxy acids and amino acids in maple syrup urine disease.
    Lancaster G; Mamer OA; Scriver CR
    Metabolism; 1974 Mar; 23(3):257-65. PubMed ID: 4813956
    [No Abstract]   [Full Text] [Related]  

  • 11. Morphological alterations and induction of oxidative stress in glial cells caused by the branched-chain alpha-keto acids accumulating in maple syrup urine disease.
    Funchal C; Latini A; Jacques-Silva MC; Dos Santos AQ; Buzin L; Gottfried C; Wajner M; Pessoa-Pureur R
    Neurochem Int; 2006 Dec; 49(7):640-50. PubMed ID: 16822590
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Molecular and biochemical basis of intermediate maple syrup urine disease. Occurrence of homozygous G245R and F364C mutations at the E1 alpha locus of Hispanic-Mexican patients.
    Chuang JL; Davie JR; Chinsky JM; Wynn RM; Cox RP; Chuang DT
    J Clin Invest; 1995 Mar; 95(3):954-63. PubMed ID: 7883996
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Prevention of DNA damage by L-carnitine induced by metabolites accumulated in maple syrup urine disease in human peripheral leukocytes in vitro.
    Mescka CP; Wayhs CA; Guerreiro G; Manfredini V; Dutra-Filho CS; Vargas CR
    Gene; 2014 Sep; 548(2):294-8. PubMed ID: 25046137
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Activities of branched-chain 2-oxo acid dehydrogenase and its components in skin fibroblasts from normal and classical-maple-syrup-urine-disease subjects.
    Chuang DT; Niu WL; Cox RP
    Biochem J; 1981 Oct; 200(1):59-67. PubMed ID: 6895847
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Classical maple syrup urine disease: cofactor resistance.
    Elsas LJ; Pask BA; Wheeler FB; Perl DP; Truster S
    Metabolism; 1972 Oct; 21(10):929-44. PubMed ID: 4342010
    [No Abstract]   [Full Text] [Related]  

  • 16. Complementation of defective leucine decarboxylation in fibroblasts from a maple syrup urine disease patient by retrovirus-mediated gene transfer.
    Mueller GM; McKenzie LR; Homanics GE; Watkins SC; Robbins PD; Paul HS
    Gene Ther; 1995 Sep; 2(7):461-8. PubMed ID: 7584124
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Defective decarboxylase in branched chain ketoacid oxidase multienzyme complex in classic type of maple syrup urine disease.
    Rüdiger HW; Langenbeck U; Schulze-Schencking M; Goedde HW
    Humangenetik; 1972; 14(4):257-63. PubMed ID: 5051750
    [No Abstract]   [Full Text] [Related]  

  • 18. Intracellular levels and metabolism of leucine and alpha-ketoisocaproate in normal and maple syrup urine disease fibroblasts.
    Wendel U; Langenbeck U
    Biochem Med; 1984 Jun; 31(3):294-302. PubMed ID: 6477534
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Complementation analysis of maple syrup urine disease in heterokaryons derived from cultured human fibroblasts.
    Lyons LB; Cox RP; Dancis J
    Nature; 1973 Jun; 243(5409):533-5. PubMed ID: 4355237
    [No Abstract]   [Full Text] [Related]  

  • 20. Creatine and antioxidant treatment prevent the inhibition of creatine kinase activity and the morphological alterations of C6 glioma cells induced by the branched-chain alpha-keto acids accumulating in maple syrup urine disease.
    Funchal C; Schuck PF; Santos AQ; Jacques-Silva MC; Gottfried C; Pessoa-Pureur R; Wajner M
    Cell Mol Neurobiol; 2006 Feb; 26(1):67-79. PubMed ID: 16633902
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.