338 related articles for article (PubMed ID: 2022752)
1. 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]
2. 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]
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. [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]
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. 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]
7. 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]
8. 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]
9. 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]
10. 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]
11. 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]
12. 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]
13. 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]
14. 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]
15. 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]
16. 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]
17. 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]
18. 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]
19. 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]
20. 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]
[Next] [New Search]
