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Understanding the role of OXPHOS dysfunction in the pathogenesis of ECHS1 deficiency.
FEBS Lett. 2020 Feb;594(4):590-610. doi: 10.1002/1873-3468.13735. Epub 2020 Jan 29.
FEBS Lett. 2020.
PMID: 31944285
Free article.
Review.
Stimulating Mitochondrial Biogenesis with Deoxyribonucleosides Increases Functional Capacity in ECHS1-Deficient Cells.
Burgin HJ, Crameri JJ, Stojanovski D, Sanchez MIGL, Ziemann M, McKenzie M.
Burgin HJ, et al.
Int J Mol Sci. 2022 Oct 20;23(20):12610. doi: 10.3390/ijms232012610.
Int J Mol Sci. 2022.
PMID: 36293464
Free PMC article.
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Pioglitazone and Deoxyribonucleoside Combination Treatment Increases Mitochondrial Respiratory Capacity in m.3243A>G MELAS Cybrid Cells.
Burgin HJ, Lopez Sanchez MIG, Smith CM, Trounce IA, McKenzie M.
Burgin HJ, et al.
Int J Mol Sci. 2020 Mar 20;21(6):2139. doi: 10.3390/ijms21062139.
Int J Mol Sci. 2020.
PMID: 32244971
Free PMC article.
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