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The British Journal of Ophthalmology|March 19, 2017
Childhood-onset Leber hereditary optic neuropathyAnna Majander, Richard Bowman, Joanna Poulton, et al.Biochimica Et Biophysica Acta|December 9, 2010
POLG mutations cause decreased mitochondrial DNA repopulation rates following induced depletion in human fibroblastsJoanna D Stewart, Susanne Schoeler, Kamil S Sitarz, et al.Frontiers in Genetics|February 24, 2015
Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylationLiliya Euro, Svetlana Konovalova, Jorge Asin-Cayuela, et al.Annals of Neurology|March 24, 2005
Mitochondrial DNA haplogroup cluster UKJT reduces the risk of PDAngela Pyle, Thomas Foltynie, Watcharee Tiangyou, et al.Brain : a Journal of Neurology|November 29, 2017
Heterozygous SSBP1 start loss mutation co-segregates with hearing loss and the m.1555A>G mtDNA variant in a large multigenerational familyPeter J Kullar, Aurora Gomez-Duran, Payam A Gammage, et al.Nature Structural & Molecular Biology|April 1, 2026
MitoPerturb-Seq identifies gene-specific single-cell responses to mitochondrial DNA depletion and heteroplasmyStephen P Burr, Kathryn Auckland, Angelos Glynos, et al.Plos One|December 23, 2014
Age-related mitochondrial DNA depletion and the impact on pancreatic Beta cell functionDonna L Nile, Audrey E Brown, Meutia A Kumaheri, et al.Plos One|March 12, 2014
Reactive oxygen species production and mitochondrial dysfunction in white blood cells are not valid biomarkers of ageing in the very oldLaura Wiley, Deepthi Ashok, Carmen Martin-Ruiz, et al.Journal of Neurology|April 21, 2010
Late-onset ptosis and myopathy in a patient with a heterozygous insertion in POLG2Maggie C Walter, Birgit Czermin, Solvig Muller-Ziermann, et al.Nature Communications|December 23, 2024
Preventing excessive autophagy protects from the pathology of mtDNA mutations in Drosophila melanogasterNajla El Fissi, Florian A Rosenberger, Kai Chang, et al.Pageof 37