" A bacterial cytidine deaminase toxin enables CRISPR-free mitochondrial base editing BY Mok, MH de Moraes, J Zeng, DE Bosch, AV Kotrys… - Nature, 2020 - nature.com … double-strand breaks, a capability that has the potential to model mitoc…

" mt DNA heteroplasmy level and copy number indicate disease burden in m. 3243A> G mitochondrial disease JP Grady, SJ Pickett, YS Ng, CL Alston… - EMBO molecular …, 2018 - embopress.org … We thank the patients who participated in this stud…

" Drug development for the therapy of mitochondrial diseases V Weissig - Trends in molecular medicine, 2020 - Elsevier … TAK-831, an inhibitor of D-amino acid oxidase, is being tested as an intervention forFriedreich’s ataxia, a mitochondr…

" Emerging therapies for mitochondrial diseases M Hirano, V Emmanuele, CM Quinzii - Essays in biochemistry, 2018 - portlandpress.com … CoQ10 Children with mitochondrial diseases with mtDNA mutations or specific OXPHOScomplexes defects Phas…

" Genome editing in mitochondria corrects a pathogenic mtDNA mutation in vivo PA Gammage, C Viscomi, ML Simard, ASH Costa… - Nature medicine, 2018 - nature.com … mitochondrial disease, bearing the point mutation m.5024C>T in … disease-rele…

" Mitochondrial diseases: the contribution of organelle stress responses to pathology A Suomalainen, BJ Battersby - Nature reviews Molecular cell biology, 2018 - nature.com … mitochondrial DNA (mtDNA) maintenance and mitochondrial translat…

" Mitochondrial medicine in the omics era J Rahman, S Rahman - The Lancet, 2018 - Elsevier … , and mitochondrial dynamics (table 1). Conversely, dozens of mitochondrial disease mutations… describing mitochondrial disease mutations (collate…

" Advancing genomic approaches to the molecular diagnosis of mitochondrial disease SL Stenton, H Prokisch - Essays in Biochemistry, 2018 - portlandpress.com … clinical presentation, are uncommon in mitochondrial disease making the selectio…

" [HTML] Advances in mt-tRNA mutation-caused mitochondrial disease modeling: patients' brain in a dish S Povea-Cabello, M Villanueva-Paz… - Frontiers in …, 2021 - frontiersin.org … , MELAS (mitochondrial encephalomyopathy, lactic acidosis,…

" Mutations in FASTKD2 are associated with mitochondrial disease with multi‐OXPHOS deficiency X Wei, M Du, D Li, S Wen, J Xie, Y Li, A Chen… - … Mutation, 2020 - Wiley Online Library … Alternatively, a patient with FASTKD2 mutation can sho…

" [HTML] Mitochondrial diseases: hope for the future OM Russell, GS Gorman, RN Lightowlers, DM Turnbull - Cell, 2020 - Elsevier … Several studies have shown that nuclear genetic defects are the main cause of childhoodmitochondrial disease …

" [HTML] Genetics of mitochondrial diseases: Identifying mutations to help diagnosis SL Stenton, H Prokisch - EBioMedicine, 2020 - Elsevier … The vast phenotypic overlap with other disease entities … mitochondrial disease patients,but acce…