Vockley J - Search Results

1

Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneity.

Vockley J, Ensenauer R. Vockley J, et al. Am J Med Genet C Semin Med Genet. 2006 May 15;142C(2):95-103. doi: 10.1002/ajmg.c.30089. Am J Med Genet C Semin Med Genet. 2006. PMID: 16602101 Free PMC article. Review.

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

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.

4

Leaky beta-oxidation of a trans-fatty acid: incomplete beta-oxidation of elaidic acid is due to the accumulation of 5-trans-tetradecenoyl-CoA and its hydrolysis and conversion to 5-trans-tetradecenoylcarnitine in the matrix of rat mitochondria.

Yu W, Liang X, Ensenauer RE, Vockley J, Sweetman L, Schulz H. Yu W, et al. Among authors: vockley j. J Biol Chem. 2004 Dec 10;279(50):52160-7. doi: 10.1074/jbc.M409640200. Epub 2004 Oct 4. J Biol Chem. 2004. PMID: 15466478 Free article.

5

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.

6

Human acyl-CoA dehydrogenase-9 plays a novel role in the mitochondrial beta-oxidation of unsaturated fatty acids.

Ensenauer R, He M, Willard JM, Goetzman ES, Corydon TJ, Vandahl BB, Mohsen AW, Isaya G, Vockley J. Ensenauer R, et al. Among authors: vockley j. J Biol Chem. 2005 Sep 16;280(37):32309-16. doi: 10.1074/jbc.M504460200. Epub 2005 Jul 14. J Biol Chem. 2005. PMID: 16020546 Free article.

7

Functional analysis of acyl-CoA dehydrogenase catalytic residue mutants using surface plasmon resonance and circular dichroism.

Goetzman ES, He M, Nguyen TV, Vockley J. Goetzman ES, et al. Among authors: vockley j. Mol Genet Metab. 2006 Mar;87(3):233-42. doi: 10.1016/j.ymgme.2005.09.027. Epub 2005 Dec 22. Mol Genet Metab. 2006. PMID: 16376132

8

Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency.

Oglesbee D, He M, Majumder N, Vockley J, Ahmad A, Angle B, Burton B, Charrow J, Ensenauer R, Ficicioglu CH, Keppen LD, Marsden D, Tortorelli S, Hahn SH, Matern D. Oglesbee D, et al. Among authors: vockley j. Genet Med. 2007 Feb;9(2):108-16. doi: 10.1097/gim.0b013e31802f78d6. Genet Med. 2007. PMID: 17304052

9

Expression and characterization of mutations in human very long-chain acyl-CoA dehydrogenase using a prokaryotic system.

Goetzman ES, Wang Y, He M, Mohsen AW, Ninness BK, Vockley J. Goetzman ES, et al. Among authors: vockley j. Mol Genet Metab. 2007 Jun;91(2):138-47. doi: 10.1016/j.ymgme.2007.01.013. Epub 2007 Mar 19. Mol Genet Metab. 2007. PMID: 17374501 Free PMC article.

10

A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency.

He M, Rutledge SL, Kelly DR, Palmer CA, Murdoch G, Majumder N, Nicholls RD, Pei Z, Watkins PA, Vockley J. He M, et al. Among authors: vockley j. Am J Hum Genet. 2007 Jul;81(1):87-103. doi: 10.1086/519219. Epub 2007 Jun 4. Am J Hum Genet. 2007. PMID: 17564966 Free PMC article.

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