150 related articles for article (PubMed ID: 8651316)
1. Maple syrup urine disease: the E1beta gene of human branched-chain alpha-ketoacid dehydrogenase complex has 11 rather than 10 exons, and the 3' UTR in one of the two E1beta mRNAs arises from intronic sequences.
Chuang JL; Cox RP; Chuang DT
Am J Hum Genet; 1996 Jun; 58(6):1373-7. PubMed ID: 8651316
[No Abstract] [Full Text] [Related]
2. 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]
3. Molecular genetic basis for inherited human disorders of branched-chain alpha-keto acid dehydrogenase complex.
Danner DJ; Litwer S; Herring WJ; Elsas LJ
Ann N Y Acad Sci; 1989; 573():369-77. PubMed ID: 2699404
[No Abstract] [Full Text] [Related]
4. E2 transacylase-deficient (type II) maple syrup urine disease. Aberrant splicing of E2 mRNA caused by internal intronic deletions and association with thiamine-responsive phenotype.
Chuang JL; Cox RP; Chuang DT
J Clin Invest; 1997 Aug; 100(3):736-44. PubMed ID: 9239422
[TBL] [Abstract][Full Text] [Related]
5. [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]
6. 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]
7. 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]
8. 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]
9. 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]
10. Diagnosis and mutational analysis of maple syrup urine disease using cell cultures.
Chuang JL; Chuang DT
Methods Enzymol; 2000; 324():413-23. PubMed ID: 10989449
[No Abstract] [Full Text] [Related]
11. 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]
12. 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]
13. 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]
14. 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]
15. 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]
16. 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]
17. Molecular heterogeneity for bovine maple syrup urine disease.
Healy PJ; Dennis JA
Anim Genet; 1994 Oct; 25(5):329-32. PubMed ID: 7818167
[TBL] [Abstract][Full Text] [Related]
18. Maple syrup urine disease: clinical and biochemical significance of gene analysis.
Nobukuni Y; Mitsubuchi H; Akaboshi I; Indo Y; Endo F; Matsuda I
J Inherit Metab Dis; 1991; 14(5):787-92. PubMed ID: 1664011
[No Abstract] [Full Text] [Related]
19. Molecular genetic characterization of maple syrup urine disease in European families.
Peinemann F; Wendel U; Danner DJ
Biochem Med Metab Biol; 1993 Dec; 50(3):338-45. PubMed ID: 8123297
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]