Page 36 - Read Online

Page 10 Brault et al. J Transl Genet Genom. 2025;9:1-10 https://dx.doi.org/10.20517/jtgg.2024.83

79. Chen Z, Zhu S, Wang H, et al. PTPMT1 is required for embryonic cardiac cardiolipin biosynthesis to regulate mitochondrial
morphogenesis and heart development. Circulation. 2021;144:403-6. DOI PubMed PMC
80. Clarke SL, Bowron A, Gonzalez IL, et al. Barth syndrome. Orphanet J Rare Dis. 2013;8:23. DOI PubMed PMC
81. Cade WT, Laforest R, Bohnert KL, et al. Myocardial glucose and fatty acid metabolism is altered and associated with lower cardiac
function in young adults with Barth syndrome. J Nucl Cardiol. 2021;28:1649-59. DOI PubMed PMC
82. Reid Thompson W, Hornby B, Manuel R, et al. A phase 2/3 randomized clinical trial followed by an open-label extension to evaluate
the effectiveness of elamipretide in Barth syndrome, a genetic disorder of mitochondrial cardiolipin metabolism. Genet Med.
2021;23:471-8. DOI PubMed PMC
83. Roshanravan B, Liu SZ, Ali AS, et al. In vivo mitochondrial ATP production is improved in older adult skeletal muscle after a single
dose of elamipretide in a randomized trial. PLoS One. 2021;16:e0253849. DOI PubMed PMC
84. Karaa A, Haas R, Goldstein A, Vockley J, Weaver WD, Cohen BH. Randomized dose-escalation trial of elamipretide in adults with
primary mitochondrial myopathy. Neurology. 2018;90:e1212-21. DOI PubMed PMC
85. Verma M, Francis L, Lizama BN, et al. iPSC-derived neurons from patients with POLG mutations exhibit decreased mitochondrial
content and dendrite simplification. Am J Pathol. 2023;193:201-12. DOI PubMed PMC
86. Löfberg M, Lindholm H, Näveri H, et al. ATP, phosphocreatine and lactate in exercising muscle in mitochondrial disease and
McArdle’s disease. Neuromuscul Disord. 2001;11:370-5. DOI
87. Lancaster MS, Hafen P, Law AS, et al. Sucla2 knock-out in skeletal muscle yields mouse model of mitochondrial myopathy with
muscle type-specific phenotypes. J Cachexia Sarcopenia Muscle. 2024;15:2729-42. DOI PubMed PMC
88. Gajewski CD, Yang L, Schon EA, Manfredi G. New insights into the bioenergetics of mitochondrial disorders using intracellular ATP
reporters. Mol Biol Cell. 2003;14:3628-35. DOI PubMed PMC