BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

279 related articles for article (PubMed ID: 3597778)

  • 21. Evidence of common ancestry for the maple syrup urine disease (MSUD) Y438N allele in non-Mennonite MSUD patients.
    Love-Gregory LD; Grasela J; Hillman RE; Phillips CL
    Mol Genet Metab; 2002 Jan; 75(1):79-90. PubMed ID: 11825067
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Comparative metabolism and structure of BCKD-E2 in primary biliary cirrhosis.
    Turchany JM; Leung PS; Iwayama T; Jefferson DM; Ishida J; Yamaguchi M; Munoz S; Danner DJ; Dickson ER; Gershwin ME
    J Autoimmun; 1993 Aug; 6(4):459-66. PubMed ID: 8216688
    [TBL] [Abstract][Full Text] [Related]  

  • 23. 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]  

  • 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. [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]  

  • 26. Altered phosphorylation state of branched-chain 2-oxo acid dehydrogenase in a branched-chain acyltransferase deficient human fibroblast cell line.
    Eisenstein RS; Hoganson G; Miller RH; Harper AE
    J Inherit Metab Dis; 1991; 14(1):37-44. PubMed ID: 1861457
    [TBL] [Abstract][Full Text] [Related]  

  • 27. 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]  

  • 28. 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]  

  • 29. 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]  

  • 30. Crystal structure of human branched-chain alpha-ketoacid dehydrogenase and the molecular basis of multienzyme complex deficiency in maple syrup urine disease.
    AEvarsson A; Chuang JL; Wynn RM; Turley S; Chuang DT; Hol WG
    Structure; 2000 Mar; 8(3):277-91. PubMed ID: 10745006
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Gene analysis of Mennonite maple syrup urine disease kindred using primer-specified restriction map modification.
    Mitsubuchi H; Matsuda I; Nobukuni Y; Heidenreich R; Indo Y; Endo F; Mallee J; Segal S
    J Inherit Metab Dis; 1992; 15(2):181-7. PubMed ID: 1356170
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Evidence for both a regulatory mutation and a structural mutation in a family with maple syrup urine disease.
    Zhang B; Edenberg HJ; Crabb DW; Harris RA
    J Clin Invest; 1989 Apr; 83(4):1425-9. PubMed ID: 2703538
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Structural organization and chromosomal localization of the gene for the E1 beta subunit of human branched chain alpha-keto acid dehydrogenase.
    Mitsubuchi H; Nobukuni Y; Endo F; Matsuda I
    J Biol Chem; 1991 Aug; 266(22):14686-91. PubMed ID: 1860867
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Premature translation termination of the pre-E1 alpha subunit of the branched chain alpha-ketoacid dehydrogenase as a cause of maple syrup urine disease in Polled Hereford calves.
    Zhang B; Healy PJ; Zhao Y; Crabb DW; Harris RA
    J Biol Chem; 1990 Feb; 265(5):2425-7. PubMed ID: 2303405
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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]  

  • 36. Maple syrup urine disease: it has come a long way.
    Chuang DT
    J Pediatr; 1998 Mar; 132(3 Pt 2):S17-23. PubMed ID: 9546032
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Definition of the mutation responsible for maple syrup urine disease in Poll Shorthorns and genotyping Poll Shorthorns and Poll Herefords for maple syrup urine disease alleles.
    Dennis JA; Healy PJ
    Res Vet Sci; 1999 Aug; 67(1):1-6. PubMed ID: 10425233
    [TBL] [Abstract][Full Text] [Related]  

  • 38. 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]  

  • 39. Sequence of the E1 alpha subunit of branched-chain alpha-ketoacid dehydrogenase in two patients with thiamine-responsive maple syrup urine disease.
    Zhang B; Wappner RS; Brandt IK; Harris RA; Crabb DW
    Am J Hum Genet; 1990 Apr; 46(4):843-6. PubMed ID: 2316528
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Maple syrup urine disease in a Bedouin tribe: pre- and postnatal diagnosis.
    Potashnik R; Carmi R; Sofer S; Bashan N; Abeliovich D
    Isr J Med Sci; 1987 Aug; 23(8):886-9. PubMed ID: 3679791
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 14.