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Uncompensated mitochondrial oxidative stress underlies heart failure in an iPSC-derived model of congenital heart disease.
Xu X, Jin K, Bais AS, Zhu W, Yagi H, Feinstein TN, Nguyen PK, Criscione JD, Liu X, Beutner G, Karunakaran KB, Rao KS, He H, Adams P, Kuo CK, Kostka D, Pryhuber GS, Shiva S, Ganapathiraju MK, Porter GA Jr, Lin JI, Aronow B, Lo CW. Xu X, et al. Cell Stem Cell. 2022 May 5;29(5):840-855.e7. doi: 10.1016/j.stem.2022.03.003. Epub 2022 Apr 7. Cell Stem Cell. 2022. PMID: 35395180 Free PMC article.
SPTLC3 Is Essential for Complex I Activity and Contributes to Ischemic Cardiomyopathy.
Kovilakath A, Mauro AG, Valentine YA, Raucci FJ, Jamil M, Carter C, Thompson J, Chen Q, Beutner G, Yue Y, Allegood J, Wang XX, Dail J, Devarakonda T, Myakala K, Windle JJ, Subler MA, Montefusco D, Willard B, Javaheri A, Bernas T, Mahata SK, Levi M, Liu J, Porter GA Jr, Lesnefsky EJ, Salloum FN, Cowart LA. Kovilakath A, et al. Circulation. 2024 Aug 20;150(8):622-641. doi: 10.1161/CIRCULATIONAHA.123.066879. Epub 2024 Apr 25. Circulation. 2024. PMID: 38660786
Neither cardiac mitochondrial DNA variation nor copy number contribute to congenital heart disease risk.
Willcox JAL, Geiger JT, Morton SU, McKean D, Quiat D, Gorham JM, Tai AC, DePalma S, Bernstein D, Brueckner M, Chung WK, Giardini A, Goldmuntz E, Kaltman JR, Kim R, Newburger JW, Shen Y, Srivastava D, Tristani-Firouzi M, Gelb B, Porter GA Jr, Seidman JG, Seidman CE. Willcox JAL, et al. Am J Hum Genet. 2022 May 5;109(5):961-966. doi: 10.1016/j.ajhg.2022.03.011. Epub 2022 Apr 8. Am J Hum Genet. 2022. PMID: 35397206 Free PMC article.
Mitochondrial citrate carrier SLC25A1 is a dosage-dependent regulator of metabolic reprogramming and morphogenesis in the developing heart.
Ohanele C, Peoples JN, Karlstaedt A, Geiger JT, Gayle AD, Ghazal N, Sohani F, Brown ME, Davis ME, Porter GA, Faundez V, Kwong JQ. Ohanele C, et al. bioRxiv [Preprint]. 2024 May 13:2023.05.22.541833. doi: 10.1101/2023.05.22.541833. bioRxiv. 2024. Update in: Commun Biol. 2024 Oct 31;7(1):1422. doi: 10.1038/s42003-024-07110-8 PMID: 37292906 Free PMC article. Updated. Preprint.
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