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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.Human Mutation|January 27, 2021
Severe congenital lactic acidosis and hypertrophic cardiomyopathy caused by an intronic variant in NDUFB7Sandrina P Correia, Marco F Moedas, Karin Naess, et al.Human Molecular Genetics|April 22, 2017
A multi-systemic mitochondrial disorder due to a dominant p.Y955H disease variant in DNA polymerase gammaTriinu Siibak, Paula Clemente, Ana Bratic, et al.Nature Genetics|October 9, 2012
Variation in germline mtDNA heteroplasmy is determined prenatally but modified during subsequent transmissionChristoph Freyer, Lynsey M Cree, Arnaud Mourier, et al.Nature Communications|June 25, 2025
The mitochondrial methylation potential gates mitoribosome assemblyRuth I C Glasgow, Vivek Singh, Lucía Peña-Pérez, et al.Journal of Medical Genetics|June 19, 2015
Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4-dihydroxybensoic acidChristoph Freyer, Henrik Stranneheim, Karin Naess, et al.Nature Communications|September 30, 2022
ANGEL2 phosphatase activity is required for non-canonical mitochondrial RNA processingPaula Clemente, Javier Calvo-Garrido, Sarah F Pearce, et al.Orphanet Journal of Rare Diseases|April 22, 2017
Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse modelSaara Tegelberg, Nikica Tomašić, Jukka Kallijärvi, et al.Human Molecular Genetics|September 17, 2015
Cyclophilin D, a target for counteracting skeletal muscle dysfunction in mitochondrial myopathyCharlotte Gineste, Andres Hernandez, Niklas Ivarsson, et al.Human Molecular Genetics|January 13, 2022
Pathogenic SLC25A26 variants impair SAH transport activity causing mitochondrial diseaseFlorian A Rosenberger, Jia Xin Tang, Kate Sergeant, et al.Pageof 5