159 related articles for article (PubMed ID: 8651316)
21. 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]
22. Complementation analysis in lymphoid cells from five patients with different forms of maple syrup urine disease.
Jinno Y; Akaboshi I; Matsuda I
Hum Genet; 1984; 68(1):54-6. PubMed ID: 6500555
[TBL] [Abstract][Full Text] [Related]
23. 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]
24. [Maple syrup urine disease].
Matsuda I
Tanpakushitsu Kakusan Koso; 1988 Apr; 33(5):585-8. PubMed ID: 3270867
[No Abstract] [Full Text] [Related]
25. 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]
26. Expression and assembly of a functional E1 component (alpha 2 beta 2) of mammalian branched-chain alpha-ketoacid dehydrogenase complex in Escherichia coli.
Davie JR; Wynn RM; Cox RP; Chuang DT
J Biol Chem; 1992 Aug; 267(23):16601-6. PubMed ID: 1644840
[TBL] [Abstract][Full Text] [Related]
27. Genetic defects in E3 component of alpha-keto acid dehydrogenase complexes.
Patel MS; Hong YS; Kerr DS
Methods Enzymol; 2000; 324():453-64. PubMed ID: 10989452
[No Abstract] [Full Text] [Related]
28. Targeting E3 component of alpha-keto acid dehydrogenase complexes.
Johnson MT; Yang HS; Patel MS
Methods Enzymol; 2000; 324():465-76. PubMed ID: 10989453
[No Abstract] [Full Text] [Related]
29. Maple syrup urine disease 1954 to 1993.
Peinemann F; Danner DJ
J Inherit Metab Dis; 1994; 17(1):3-15. PubMed ID: 8051937
[No Abstract] [Full Text] [Related]
30. 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]
31. 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]
32. 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]
33. Maple syrup urine disease: identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population.
Edelmann L; Wasserstein MP; Kornreich R; Sansaricq C; Snyderman SE; Diaz GA
Am J Hum Genet; 2001 Oct; 69(4):863-8. PubMed ID: 11509994
[TBL] [Abstract][Full Text] [Related]
34. 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]
35. Occurrence of a 2-bp (AT) deletion allele and a nonsense (G-to-T) mutant allele at the E2 (DBT) locus of six patients with maple syrup urine disease: multiple-exon skipping as a secondary effect of the mutations.
Fisher CW; Fisher CR; Chuang JL; Lau KS; Chuang DT; Cox RP
Am J Hum Genet; 1993 Feb; 52(2):414-24. PubMed ID: 8430702
[TBL] [Abstract][Full Text] [Related]
36. 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]
37. Biochemical basis of type IB (E1beta ) mutations in maple syrup urine disease. A prevalent allele in patients from the Druze kindred in Israel.
Wynn RM; Chuang JL; Sansaricq C; Mandel H; Chuang DT
J Biol Chem; 2001 Sep; 276(39):36550-6. PubMed ID: 11448970
[TBL] [Abstract][Full Text] [Related]
38. 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]
39. 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]
40. Structure of the gene encoding the entire mature E1 alpha subunit of human branched-chain alpha-keto acid dehydrogenase complex.
Dariush N; Fisher CW; Cox RP; Chuang DT
FEBS Lett; 1991 Jun; 284(1):34-8. PubMed ID: 2060625
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
