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Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency.
Schiff M, Haberberger B, Xia C, Mohsen AW, Goetzman ES, Wang Y, Uppala R, Zhang Y, Karunanidhi A, Prabhu D, Alharbi H, Prochownik EV, Haack T, Häberle J, Munnich A, Rötig A, Taylor RW, Nicholls RD, Kim JJ, Prokisch H, Vockley J. Schiff M, et al. Among authors: kim jj. Hum Mol Genet. 2015 Jun 1;24(11):3238-47. doi: 10.1093/hmg/ddv074. Epub 2015 Feb 26. Hum Mol Genet. 2015. PMID: 25721401 Free PMC article.
Structural basis for human NADPH-cytochrome P450 oxidoreductase deficiency.
Xia C, Panda SP, Marohnic CC, Martásek P, Masters BS, Kim JJ. Xia C, et al. Among authors: kim jj. Proc Natl Acad Sci U S A. 2011 Aug 16;108(33):13486-91. doi: 10.1073/pnas.1106632108. Epub 2011 Aug 1. Proc Natl Acad Sci U S A. 2011. PMID: 21808038 Free PMC article.
Genetic basis for correction of very-long-chain acyl-coenzyme A dehydrogenase deficiency by bezafibrate in patient fibroblasts: toward a genotype-based therapy.
Gobin-Limballe S, Djouadi F, Aubey F, Olpin S, Andresen BS, Yamaguchi S, Mandel H, Fukao T, Ruiter JP, Wanders RJ, McAndrew R, Kim JJ, Bastin J. Gobin-Limballe S, et al. Among authors: kim jj. Am J Hum Genet. 2007 Dec;81(6):1133-43. doi: 10.1086/522375. Epub 2007 Oct 29. Am J Hum Genet. 2007. PMID: 17999356 Free PMC article.
4,462 results