Vockley J - Search Results

1

A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening.

Ensenauer R, Vockley J, Willard JM, Huey JC, Sass JO, Edland SD, Burton BK, Berry SA, Santer R, Grünert S, Koch HG, Marquardt I, Rinaldo P, Hahn S, Matern D. Ensenauer R, et al. Among authors: vockley j. Am J Hum Genet. 2004 Dec;75(6):1136-42. doi: 10.1086/426318. Epub 2004 Oct 14. Am J Hum Genet. 2004. PMID: 15486829 Free PMC article.

2

Molecular characterization of four different classes of mutations in the isovaleryl-CoA dehydrogenase gene responsible for isovaleric acidemia.

Vockley J, Parimoo B, Tanaka K. Vockley J, et al. Am J Hum Genet. 1991 Jul;49(1):147-57. Am J Hum Genet. 1991. PMID: 2063866 Free PMC article.

3

Molecular characterization of mitochondrial trifunctional protein deficiency: formation of the enzyme complex is important for stabilization of both alpha- and beta-subunits.

Ushikubo S, Aoyama T, Kamijo T, Wanders RJ, Rinaldo P, Vockley J, Hashimoto T. Ushikubo S, et al. Among authors: vockley j. Am J Hum Genet. 1996 May;58(5):979-88. Am J Hum Genet. 1996. PMID: 8651282 Free PMC article.

4

Cloning of a cDNA for short/branched chain acyl-Coenzyme A dehydrogenase from rat and characterization of its tissue expression and substrate specificity.

Willard J, Vicanek C, Battaile KP, Van Veldhoven PP, Fauq AH, Rozen R, Vockley J. Willard J, et al. Among authors: vockley j. Arch Biochem Biophys. 1996 Jul 1;331(1):127-33. doi: 10.1006/abbi.1996.0290. Arch Biochem Biophys. 1996. PMID: 8660691

5

Identification of the catalytic residue of human short/branched chain acyl-CoA dehydrogenase by in vitro mutagenesis.

Binzak B, Willard J, Vockley J. Binzak B, et al. Among authors: vockley j. Biochim Biophys Acta. 1998 Jan 15;1382(1):137-42. doi: 10.1016/s0167-4838(97)00161-1. Biochim Biophys Acta. 1998. PMID: 9507094

6

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. Mohsen AW, et al. Among authors: vockley j. Biochemistry. 1998 Jul 14;37(28):10325-35. doi: 10.1021/bi973096r. Biochemistry. 1998. PMID: 9665741

7

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. Vockley J, et al. Am J Hum Genet. 2000 Feb;66(2):356-67. doi: 10.1086/302751. Am J Hum Genet. 2000. PMID: 10677295 Free PMC article.

8

Mitochondrial import and processing of wild type and type III mutant isovaleryl-CoA dehydrogenase.

Volchenboum SL, Vockley J. Volchenboum SL, et al. Among authors: vockley j. J Biol Chem. 2000 Mar 17;275(11):7958-63. doi: 10.1074/jbc.275.11.7958. J Biol Chem. 2000. PMID: 10713113 Free article.

9

Cloning of a gene for an acyl-CoA dehydrogenase from Pisum sativum L. and purification and characterization of its product as an isovaleryl-CoA dehydrogenase.

Reinard T, Janke V, Willard J, Buck F, Jacobsen HJ, Vockley J. Reinard T, et al. Among authors: vockley j. J Biol Chem. 2000 Oct 27;275(43):33738-43. doi: 10.1074/jbc.M004178200. J Biol Chem. 2000. PMID: 10913142 Free article.

10

Mammalian branched-chain acyl-CoA dehydrogenases: molecular cloning and characterization of recombinant enzymes.

Vockley J, Mohsen al-W A, Binzak B, Willard J, Fauq A. Vockley J, et al. Methods Enzymol. 2000;324:241-58. doi: 10.1016/s0076-6879(00)24236-5. Methods Enzymol. 2000. PMID: 10989435 No abstract available.

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