These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

164 related articles for article (PubMed ID: 1861457)

  • 21. Occurrence of a Tyr393----Asn (Y393N) mutation in the E1 alpha gene of the branched-chain alpha-keto acid dehydrogenase complex in maple syrup urine disease patients from a Mennonite population.
    Fisher CR; Fisher CW; Chuang DT; Cox RP
    Am J Hum Genet; 1991 Aug; 49(2):429-34. PubMed ID: 1867199
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Molecular basis of maple syrup urine disease: novel mutations at the E1 alpha locus that impair E1(alpha 2 beta 2) assembly or decrease steady-state E1 alpha mRNA levels of branched-chain alpha-keto acid dehydrogenase complex.
    Chuang JL; Fisher CR; Cox RP; Chuang DT
    Am J Hum Genet; 1994 Aug; 55(2):297-304. PubMed ID: 8037208
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Primary human fibroblasts from a maple syrup urine disease patient undergo apoptosis following exposure to physiological concentrations of branched chain amino acids.
    Jouvet P; Kozma M; Mehmet H
    Ann N Y Acad Sci; 2000; 926():116-21. PubMed ID: 11193026
    [TBL] [Abstract][Full Text] [Related]  

  • 24. cDNA cloning of the E1 alpha subunit of the branched-chain alpha-keto acid dehydrogenase and elucidation of a molecular basis for maple syrup urine disease.
    Zhang B; Kuntz MJ; Goodwin GW; Edenberg HJ; Crabb DW; Harris RA
    Ann N Y Acad Sci; 1989; 573():130-6. PubMed ID: 2634344
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Activation of branched-chain alpha-ketoacid dehydrogenase complex by alpha-chloroisocaproate in normal and enzyme-deficient fibroblasts.
    Toshima K; Kuroda Y; Yokota I; Naito E; Ito M; Watanabe T; Takeda E; Miyao M
    Clin Chim Acta; 1985 Apr; 147(2):103-8. PubMed ID: 3987057
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Stable correction of maple syrup urine disease in cells from a Mennonite patient by retroviral-mediated gene transfer.
    Koyata H; Cox RP; Chuang DT
    Biochem J; 1993 Nov; 295 ( Pt 3)(Pt 3):635-9. PubMed ID: 8240269
    [TBL] [Abstract][Full Text] [Related]  

  • 27. A T-to-A substitution in the E1 alpha subunit gene of the branched-chain alpha-ketoacid dehydrogenase complex in two cell lines derived from Menonite maple syrup urine disease patients.
    Matsuda I; Nobukuni Y; Mitsubuchi H; Indo Y; Endo F; Asaka J; Harada A
    Biochem Biophys Res Commun; 1990 Oct; 172(2):646-51. PubMed ID: 2241958
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Absence of branched chain acyl-transferase as a cause of maple syrup urine disease.
    Danner DJ; Armstrong N; Heffelfinger SC; Sewell ET; Priest JH; Elsas LJ
    J Clin Invest; 1985 Mar; 75(3):858-60. PubMed ID: 3980729
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Deficiency of the E1 beta subunit in the branched-chain alpha-keto acid dehydrogenase complex due to a single base substitution of the intron 5, resulting in two alternatively spliced mRNAs in a patient with maple syrup urine disease.
    Hayashida Y; Mitsubuchi H; Indo Y; Ohta K; Endo F; Wada Y; Matsuda I
    Biochim Biophys Acta; 1994 Feb; 1225(3):317-25. PubMed ID: 8312380
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Gene preference in maple syrup urine disease.
    Nellis MM; Danner DJ
    Am J Hum Genet; 2001 Jan; 68(1):232-7. PubMed ID: 11112664
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Reversion of the maple syrup urine disease phenotype of impaired branched chain alpha-ketoacid dehydrogenase complex activity in fibroblasts from an affected child.
    Litwer S; Herring WJ; Danner DJ
    J Biol Chem; 1989 Sep; 264(25):14597-600. PubMed ID: 2768232
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Maple syrup urine disease. Complete defect of the E1 beta subunit of the branched chain alpha-ketoacid dehydrogenase complex due to a deletion of an 11-bp repeat sequence which encodes a mitochondrial targeting leader peptide in a family with the disease.
    Nobukuni Y; Mitsubuchi H; Akaboshi I; Indo Y; Endo F; Yoshioka A; Matsuda I
    J Clin Invest; 1991 May; 87(5):1862-6. PubMed ID: 2022752
    [TBL] [Abstract][Full Text] [Related]  

  • 33. [Maple syrup urine disease: molecular pathology of the branched chain alpha-keto acid dehydrogenase complex].
    Nobukuni Y; Mitsubuchi H; Indo Y; Endo F; Matsuda I
    Seikagaku; 1992 Feb; 64(2):67-82. PubMed ID: 1593184
    [No Abstract]   [Full Text] [Related]  

  • 34. Detection of heterozygotes in maple-syrup-urine disease: measurements of branched-chain alpha-ketoacid dehydrogenase and its components in cell cultures.
    Chuang DT; Ku LS; Kerr DS; Cox RP
    Am J Hum Genet; 1982 May; 34(3):416-24. PubMed ID: 7081220
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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]  

  • 36. Maple syrup urine disease in Mennonites. Evidence that the Y393N mutation in E1 alpha impedes assembly of the E1 component of branched-chain alpha-keto acid dehydrogenase complex.
    Fisher CR; Chuang JL; Cox RP; Fisher CW; Star RA; Chuang DT
    J Clin Invest; 1991 Sep; 88(3):1034-7. PubMed ID: 1885764
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Study on established lymphoid cells in maple syrup urine disease. Correlation with clinical heterogeneity.
    Jinno Y; Akaboshi I; Katsuki T; Matsuda I
    Hum Genet; 1984; 65(4):358-61. PubMed ID: 6693123
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Production and characterization of murine models of classic and intermediate maple syrup urine disease.
    Homanics GE; Skvorak K; Ferguson C; Watkins S; Paul HS
    BMC Med Genet; 2006 Mar; 7():33. PubMed ID: 16579849
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Catalytic and structural properties of the dihydrolipoyl transacylase component of bovine branched-chain alpha-keto acid dehydrogenase.
    Chuang DT; Hu CC; Ku LS; Niu WL; Myers DE; Cox RP
    J Biol Chem; 1984 Jul; 259(14):9277-84. PubMed ID: 6746648
    [TBL] [Abstract][Full Text] [Related]  

  • 40. A structural abnormality of E1 component of the branched-chain alpha-keto acid dehydrogenase complex in maple syrup urine disease.
    Indo Y; Kitano A; Akaboshi I; Endo F; Matsuda I
    J Inherit Metab Dis; 1987; 10(3):281-3. PubMed ID: 3123794
    [No Abstract]   [Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 9.