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Journal Abstract Search

181 related items for PubMed ID: 2063866

  • 1. Molecular characterization of four different classes of mutations in the isovaleryl-CoA dehydrogenase gene responsible for isovaleric acidemia.
    Vockley J, Parimoo B, Tanaka K.
    Am J Hum Genet; 1991 Jul; 49(1):147-57. PubMed ID: 2063866
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  • 2. The variant human isovaleryl-CoA dehydrogenase gene responsible for type II isovaleric acidemia determines an RNA splicing error, leading to the deletion of the entire second coding exon and the production of a truncated precursor protein that interacts poorly with mitochondrial import receptors.
    Vockley J, Nagao M, Parimoo B, Tanaka K.
    J Biol Chem; 1992 Feb 05; 267(4):2494-501. PubMed ID: 1310317
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  • 3. Exon skipping in IVD RNA processing in isovaleric acidemia caused by point mutations in the coding region of the IVD gene.
    Vockley J, Rogan PK, Anderson BD, Willard J, Seelan RS, Smith DI, Liu W.
    Am J Hum Genet; 2000 Feb 05; 66(2):356-67. PubMed ID: 10677295
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  • 4. Mitochondrial import and processing of wild type and type III mutant isovaleryl-CoA dehydrogenase.
    Volchenboum SL, Vockley J.
    J Biol Chem; 2000 Mar 17; 275(11):7958-63. PubMed ID: 10713113
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  • 5. Nucleotide sequence of messenger RNA encoding human isovaleryl-coenzyme A dehydrogenase and its expression in isovaleric acidemia fibroblasts.
    Matsubara Y, Ito M, Glassberg R, Satyabhama S, Ikeda Y, Tanaka K.
    J Clin Invest; 1990 Apr 17; 85(4):1058-64. PubMed ID: 2318964
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  • 6. Molecular basis of isovaleric acidemia and medium-chain acyl-CoA dehydrogenase deficiency.
    Tanaka K, Ikeda Y, Matsubara Y, Hyman DB.
    Enzyme; 1987 Apr 17; 38(1-4):91-107. PubMed ID: 3326738
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  • 7. Characterization of molecular defects in isovaleryl-CoA dehydrogenase in patients with isovaleric acidemia.
    Mohsen AW, Anderson BD, Volchenboum SL, Battaile KP, Tiffany K, Roberts D, Kim JJ, Vockley J.
    Biochemistry; 1998 Jul 14; 37(28):10325-35. PubMed ID: 9665741
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  • 8. Molecular heterogeneity of variant isovaleryl-CoA dehydrogenase from cultured isovaleric acidemia fibroblasts.
    Ikeda Y, Keese SM, Tanaka K.
    Proc Natl Acad Sci U S A; 1985 Oct 14; 82(20):7081-5. PubMed ID: 3863140
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  • 10. Different spectrum of mutations of isovaleryl-CoA dehydrogenase (IVD) gene in Korean patients with isovaleric acidemia.
    Lee YW, Lee DH, Vockley J, Kim ND, Lee YK, Ki CS.
    Mol Genet Metab; 2007 Oct 14; 92(1-2):71-7. PubMed ID: 17576084
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  • 11. Isovaleryl-CoA dehydrogenase activity in isovaleric acidemia fibroblasts using an improved tritium release assay.
    Hyman DB, Tanaka K.
    Pediatr Res; 1986 Jan 14; 20(1):59-61. PubMed ID: 3753755
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  • 12. Cloning of genomic and cDNA for mouse isovaleryl-CoA dehydrogenase (IVD) and evolutionary comparison to other known IVDs.
    Willard JM, Reinard T, Mohsen A, Vockley J.
    Gene; 2001 May 30; 270(1-2):253-7. PubMed ID: 11404023
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  • 13. Structural organization of the human isovaleryl-CoA dehydrogenase gene.
    Parimoo B, Tanaka K.
    Genomics; 1993 Mar 30; 15(3):582-90. PubMed ID: 8468053
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  • 18. Characterization of variants of uncertain significance in isovaleryl-CoA dehydrogenase identified through newborn screening: An approach for faster analysis.
    D'Annibale OM, Koppes EA, Alodaib AN, Kochersperger C, Karunanidhi A, Mohsen AW, Vockley J.
    Mol Genet Metab; 2021 Mar 30; 134(1-2):29-36. PubMed ID: 34535384
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  • 20. [Clinical and mutational study of a Chinese infant with isovaleric acidemia].
    Qiu WJ, Gu XF, Ye J, Han LS, Bai HT, Wang X, Gao XL, Wang Y, Jin J, Zhang HW.
    Zhonghua Er Ke Za Zhi; 2008 Jul 30; 46(7):526-30. PubMed ID: 19099814
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