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 *

280 related articles for article (PubMed ID: 3597778)

  • 1. Altered kinetic properties of the branched-chain alpha-keto acid dehydrogenase complex due to mutation of the beta-subunit of the branched-chain alpha-keto acid decarboxylase (E1) component in lymphoblastoid cells derived from patients with maple syrup urine disease.
    Indo Y; Kitano A; Endo F; Akaboshi I; Matsuda I
    J Clin Invest; 1987 Jul; 80(1):63-70. PubMed ID: 3597778
    [TBL] [Abstract][Full Text] [Related]  

  • 2. [Gene analysis of maple syrup urine disease (MSUD)].
    Mitsubuchi H; Nobukuni Y; Hayashida Y; Ohta K; Indo Y; Akaboshi I; Endo F; Matsuda I
    Rinsho Byori; 1993 May; 41(5):484-91. PubMed ID: 8350511
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Maple syrup urine disease. Complete primary structure of the E1 beta subunit of human branched chain alpha-ketoacid dehydrogenase complex deduced from the nucleotide sequence and a gene analysis of patients with this disease.
    Nobukuni Y; Mitsubuchi H; Endo F; Akaboshi I; Asaka J; Matsuda I
    J Clin Invest; 1990 Jul; 86(1):242-7. PubMed ID: 2365818
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. Maple syrup urine disease: domain structure, mutations and exon skipping in the dihydrolipoyl transacylase (E2) component of the branched-chain alpha-keto acid dehydrogenase complex.
    Chuang DT; Fisher CW; Lau KS; Griffin TA; Wynn RM; Cox RP
    Mol Biol Med; 1991 Feb; 8(1):49-63. PubMed ID: 1943690
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Molecular basis of intermittent maple syrup urine disease: novel mutations in the E2 gene of the branched-chain alpha-keto acid dehydrogenase complex.
    Tsuruta M; Mitsubuchi H; Mardy S; Miura Y; Hayashida Y; Kinugasa A; Ishitsu T; Matsuda I; Indo Y
    J Hum Genet; 1998; 43(2):91-100. PubMed ID: 9621512
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Maple syrup urine disease caused by a partial deletion in the inner E2 core domain of the branched chain alpha-keto acid dehydrogenase complex due to aberrant splicing. A single base deletion at a 5'-splice donor site of an intron of the E2 gene disrupts the consensus sequence in this region.
    Mitsubuchi H; Nobukuni Y; Akaboshi I; Indo Y; Endo F; Matsuda I
    J Clin Invest; 1991 Apr; 87(4):1207-11. PubMed ID: 2010537
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Molecular defects in the E1 alpha subunit of the branched-chain alpha-ketoacid dehydrogenase complex that cause maple syrup urine disease.
    Zhang B; Zhao Y; Harris RA; Crabb DW
    Mol Biol Med; 1991 Feb; 8(1):39-47. PubMed ID: 1943689
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A nonsense mutation (R242X) in the branched-chain alpha-keto acid dehydrogenase E1alpha subunit gene (BCKDHA) as a cause of maple syrup urine disease. Mutations in brief no. 160. Online.
    Chinsky J; Appel M; Almashanu S; Costeas P; Ambulos N; Carmi R
    Hum Mutat; 1998; 12(2):136. PubMed ID: 10694918
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Heterogeneity of mutations in maple syrup urine disease (MSUD): screening and identification of affected E1 alpha and E1 beta subunits of the branched-chain alpha-keto-acid dehydrogenase multienzyme complex.
    Nobukuni Y; Mitsubuchi H; Hayashida Y; Ohta K; Indo Y; Ichiba Y; Endo F; Matsuda I
    Biochim Biophys Acta; 1993 Nov; 1225(1):64-70. PubMed ID: 8161368
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Molecular phenotypes in cultured maple syrup urine disease cells. Complete E1 alpha cDNA sequence and mRNA and subunit contents of the human branched chain alpha-keto acid dehydrogenase complex.
    Fisher CW; Chuang JL; Griffin TA; Lau KS; Cox RP; Chuang DT
    J Biol Chem; 1989 Feb; 264(6):3448-53. PubMed ID: 2914958
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 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. Impaired assembly of E1 decarboxylase of the branched-chain alpha-ketoacid dehydrogenase complex in type IA maple syrup urine disease.
    Wynn RM; Davie JR; Chuang JL; Cote CD; Chuang DT
    J Biol Chem; 1998 May; 273(21):13110-8. PubMed ID: 9582350
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Molecular basis of maple syrup urine disease and stable correction by retroviral gene transfer.
    Chuang DT; Davie JR; Wynn RM; Chuang JL; Koyata H; Cox RP
    J Nutr; 1995 Jun; 125(6 Suppl):1766S-1772S. PubMed ID: 7782943
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Regulation of the branched-chain alpha-ketoacid dehydrogenase and elucidation of a molecular basis for maple syrup urine disease.
    Harris RA; Zhang B; Goodwin GW; Kuntz MJ; Shimomura Y; Rougraff P; Dexter P; Zhao Y; Gibson R; Crabb DW
    Adv Enzyme Regul; 1990; 30():245-63. PubMed ID: 2403034
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Isolation and sequencing of a cDNA encoding the decarboxylase (E1)alpha precursor of bovine branched-chain alpha-keto acid dehydrogenase complex. Expression of E1 alpha mRNA and subunit in maple-syrup-urine-disease and 3T3-L1 cells.
    Hu CW; Lau KS; Griffin TA; Chuang JL; Fisher CW; Cox RP; Chuang DT
    J Biol Chem; 1988 Jun; 263(18):9007-14. PubMed ID: 3379058
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Maple syrup urine disease: a possible biochemical basis for the clinical heterogeneity.
    Indo Y; Akaboshi I; Nobukuni Y; Endo F; Matsuda I
    Hum Genet; 1988 Sep; 80(1):6-10. PubMed ID: 3417306
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.