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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: karunanidhi a. 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.
Development and characterization of a mouse model for Acad9 deficiency.
Sinsheimer A, Mohsen AW, Bloom K, Karunanidhi A, Bharathi S, Wu YL, Schiff M, Wang Y, Goetzman ES, Ghaloul-Gonzalez L, Vockley J. Sinsheimer A, et al. Among authors: karunanidhi a. Mol Genet Metab. 2021 Sep-Oct;134(1-2):156-163. doi: 10.1016/j.ymgme.2021.09.002. Epub 2021 Sep 14. Mol Genet Metab. 2021. PMID: 34556413 Free PMC article.
Evaluation of mitochondrial bioenergetics, dynamics, endoplasmic reticulum-mitochondria crosstalk, and reactive oxygen species in fibroblasts from patients with complex I deficiency.
Leipnitz G, Mohsen AW, Karunanidhi A, Seminotti B, Roginskaya VY, Markantone DM, Grings M, Mihalik SJ, Wipf P, Van Houten B, Vockley J. Leipnitz G, et al. Among authors: karunanidhi a. Sci Rep. 2018 Jan 18;8(1):1165. doi: 10.1038/s41598-018-19543-3. Sci Rep. 2018. PMID: 29348607 Free PMC article.
Mitochondrial energetics is impaired in very long-chain acyl-CoA dehydrogenase deficiency and can be rescued by treatment with mitochondria-targeted electron scavengers.
Seminotti B, Leipnitz G, Karunanidhi A, Kochersperger C, Roginskaya VY, Basu S, Wang Y, Wipf P, Van Houten B, Mohsen AW, Vockley J. Seminotti B, et al. Among authors: karunanidhi a. Hum Mol Genet. 2019 Mar 15;28(6):928-941. doi: 10.1093/hmg/ddy403. Hum Mol Genet. 2019. PMID: 30445591 Free PMC article.
Long-chain acyl-CoA dehydrogenase deficiency as a cause of pulmonary surfactant dysfunction.
Goetzman ES, Alcorn JF, Bharathi SS, Uppala R, McHugh KJ, Kosmider B, Chen R, Zuo YY, Beck ME, McKinney RW, Skilling H, Suhrie KR, Karunanidhi A, Yeasted R, Otsubo C, Ellis B, Tyurina YY, Kagan VE, Mallampalli RK, Vockley J. Goetzman ES, et al. Among authors: karunanidhi a. J Biol Chem. 2014 Apr 11;289(15):10668-10679. doi: 10.1074/jbc.M113.540260. Epub 2014 Mar 3. J Biol Chem. 2014. PMID: 24591516 Free PMC article.
Mitochondrial dysfunction associated with TANGO2 deficiency.
Heiman P, Mohsen AW, Karunanidhi A, St Croix C, Watkins S, Koppes E, Haas R, Vockley J, Ghaloul-Gonzalez L. Heiman P, et al. Among authors: karunanidhi a. Sci Rep. 2022 Feb 23;12(1):3045. doi: 10.1038/s41598-022-07076-9. Sci Rep. 2022. PMID: 35197517 Free PMC article.
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