403 related articles for article (PubMed ID: 14755340)
1. ENU mutagenesis identifies mice with mitochondrial branched-chain aminotransferase deficiency resembling human maple syrup urine disease.
Wu JY; Kao HJ; Li SC; Stevens R; Hillman S; Millington D; Chen YT
J Clin Invest; 2004 Feb; 113(3):434-40. PubMed ID: 14755340
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. Total branched-chain amino acids requirement in patients with maple syrup urine disease by use of indicator amino acid oxidation with L-[1-13C]phenylalanine.
Riazi R; Rafii M; Clarke JT; Wykes LJ; Ball RO; Pencharz PB
Am J Physiol Endocrinol Metab; 2004 Jul; 287(1):E142-9. PubMed ID: 14970005
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Hypervalinemia and hyperleucine-isoleucinemia caused by mutations in the branched-chain-amino-acid aminotransferase gene.
Wang XL; Li CJ; Xing Y; Yang YH; Jia JP
J Inherit Metab Dis; 2015 Sep; 38(5):855-61. PubMed ID: 25653144
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Production and characterization of murine models of classic and intermediate maple syrup urine disease.
Homanics GE; Skvorak K; Ferguson C; Watkins S; Paul HS
BMC Med Genet; 2006 Mar; 7():33. PubMed ID: 16579849
[TBL] [Abstract][Full Text] [Related]
9. Characterization of a branched-chain amino-acid aminotransferase from Schizosaccharomyces pombe.
Eden A; Benvenisty N
Yeast; 1998 Jan; 14(2):189-94. PubMed ID: 9483807
[TBL] [Abstract][Full Text] [Related]
10. Expanding the genetic and phenotypic spectrum of branched-chain amino acid transferase 2 deficiency.
Knerr I; Colombo R; Urquhart J; Morais A; Merinero B; Oyarzabal A; Pérez B; Jones SA; Perveen R; Preece MA; Rogers Y; Treacy EP; Mayne P; Zampino G; MacKinnon S; Wassmer E; Yue WW; Robinson I; Rodríguez-Pombo P; Olpin SE; Banka S
J Inherit Metab Dis; 2019 Sep; 42(5):809-817. PubMed ID: 31177572
[TBL] [Abstract][Full Text] [Related]
11. Identification of twelve novel mutations in patients with classic and variant forms of maple syrup urine disease.
Henneke M; Flaschker N; Helbling C; Müller M; Schadewaldt P; Gärtner J; Wendel U
Hum Mutat; 2003 Nov; 22(5):417. PubMed ID: 14517957
[TBL] [Abstract][Full Text] [Related]
12. Diagnosis of MSUD by newborn screening allows early intervention without extraneous detoxification.
Heldt K; Schwahn B; Marquardt I; Grotzke M; Wendel U
Mol Genet Metab; 2005 Apr; 84(4):313-6. PubMed ID: 15781191
[TBL] [Abstract][Full Text] [Related]
13. Complementation of defective leucine decarboxylation in fibroblasts from a maple syrup urine disease patient by retrovirus-mediated gene transfer.
Mueller GM; McKenzie LR; Homanics GE; Watkins SC; Robbins PD; Paul HS
Gene Ther; 1995 Sep; 2(7):461-8. PubMed ID: 7584124
[TBL] [Abstract][Full Text] [Related]
14. [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]
15. Adipose transplant for inborn errors of branched chain amino acid metabolism in mice.
Zimmerman HA; Olson KC; Chen G; Lynch CJ
Mol Genet Metab; 2013 Aug; 109(4):345-53. PubMed ID: 23800641
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. Genome instability in Maple Syrup Urine Disease correlates with impaired mitochondrial biogenesis.
Strand JM; Skinnes R; Scheffler K; Rootvelt T; Woldseth B; Bjørås M; Eide L
Metabolism; 2014 Aug; 63(8):1063-70. PubMed ID: 24928662
[TBL] [Abstract][Full Text] [Related]
19. Molecular characterization of maple syrup urine disease patients from Tunisia.
Jaafar N; Moleirinho A; Kerkeni E; Monastiri K; Seboui H; Amorim A; Prata MJ; Quental S
Gene; 2013 Mar; 517(1):116-9. PubMed ID: 23313820
[TBL] [Abstract][Full Text] [Related]
20. Mitochondrial branched chain aminotransferase gene expression in AS-30D hepatoma rat cells and during liver regeneration after partial hepatectomy in rat.
Pérez-Villaseñor G; Tovar AR; Moranchel AH; Hernández-Pando R; Hutson SM; Torres N
Life Sci; 2005 Dec; 78(4):334-9. PubMed ID: 16194549
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
