Premature ageing in mice expressing defective mitochondrial DNA polymerase A Trifunovic, A Wredenberg, M Falkenberg, JN Spelbrink, AT Rovio, ... Nature 429 (6990), 417-423, 2004 | 3172 | 2004 |
Somatic mtDNA mutations cause aging phenotypes without affecting reactive oxygen species production A Trifunovic, A Hansson, A Wredenberg, AT Rovio, E Dufour, I Khvorostov, ... Proceedings of the National Academy of Sciences 102 (50), 17993-17998, 2005 | 665 | 2005 |
Strong purifying selection in transmission of mammalian mitochondrial DNA JB Stewart, C Freyer, JL Elson, A Wredenberg, Z Cansu, A Trifunovic, ... PLoS biology 6 (1), e10, 2008 | 556 | 2008 |
LRPPRC is necessary for polyadenylation and coordination of translation of mitochondrial mRNAs B Ruzzenente, MD Metodiev, A Wredenberg, A Bratic, CB Park, Y Cámara, ... The EMBO journal 31 (2), 443-456, 2012 | 370 | 2012 |
Increased mitochondrial mass in mitochondrial myopathy mice A Wredenberg, R Wibom, H Wilhelmsson, C Graff, HH Wiener, SJ Burden, ... Proceedings of the National Academy of Sciences 99 (23), 15066-15071, 2002 | 340 | 2002 |
Random point mutations with major effects on protein-coding genes are the driving force behind premature aging in mtDNA mutator mice D Edgar, I Shabalina, Y Camara, A Wredenberg, MA Calvaruso, ... Cell metabolism 10 (2), 131-138, 2009 | 290 | 2009 |
An international classification of inherited metabolic disorders (ICIMD) CR Ferreira, S Rahman, M Keller, J Zschocke, ICIMD Advisory Group, ... Journal of inherited metabolic disease 44 (1), 164-177, 2021 | 234 | 2021 |
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients H Stranneheim, K Lagerstedt-Robinson, M Magnusson, M Kvarnung, ... Genome Medicine 13, 1-15, 2021 | 217 | 2021 |
Respiratory chain dysfunction in skeletal muscle does not cause insulin resistance A Wredenberg, C Freyer, ME Sandström, A Katz, R Wibom, H Westerblad, ... Biochemical and biophysical research communications 350 (1), 202-207, 2006 | 168 | 2006 |
Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway R Acuna-Hidalgo, D Schanze, A Kariminejad, A Nordgren, ... The American Journal of Human Genetics 95 (3), 285-293, 2014 | 140 | 2014 |
Modulation of mtDNA copy number ameliorates the pathological consequences of a heteroplasmic mtDNA mutation in the mouse R Filograna, C Koolmeister, M Upadhyay, A Pajak, P Clemente, R Wibom, ... Science advances 5 (4), eaav9824, 2019 | 134 | 2019 |
MTERF3 regulates mitochondrial ribosome biogenesis in invertebrates and mammals A Wredenberg, M Lagouge, A Bratic, MD Metodiev, H Spåhr, A Mourier, ... PLoS genetics 9 (1), e1003178, 2013 | 127 | 2013 |
Absence of the autophagy adaptor SQSTM1/p62 causes childhood-onset neurodegeneration with ataxia, dystonia, and gaze palsy TB Haack, E Ignatius, J Calvo-Garrido, A Iuso, P Isohanni, C Maffezzini, ... The American Journal of Human Genetics 99 (3), 735-743, 2016 | 125 | 2016 |
Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2, 4–dihydroxybensoic acid C Freyer, H Stranneheim, K Naess, A Mourier, A Felser, C Maffezzini, ... Journal of medical genetics 52 (11), 779-783, 2015 | 118 | 2015 |
Increased mitochondrial Ca 2+ and decreased sarcoplasmic reticulum Ca 2+ in mitochondrial myopathy J Aydin, DC Andersson, SL Hänninen, A Wredenberg, P Tavi, CB Park, ... Human molecular genetics 18 (2), 278-288, 2009 | 96 | 2009 |
RNA modification landscape of the human mitochondrial tRNALys regulates protein synthesis U Richter, ME Evans, WC Clark, P Marttinen, EA Shoubridge, ... Nature communications 9 (1), 3966, 2018 | 85 | 2018 |
Metabolic regulation of neurodifferentiation in the adult brain C Maffezzini, J Calvo-Garrido, A Wredenberg, C Freyer Cellular and Molecular Life Sciences 77, 2483-2496, 2020 | 82 | 2020 |
Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism H Stranneheim, M Engvall, K Naess, N Lesko, P Larsson, M Dahlberg, ... BMC genomics 15, 1-10, 2014 | 79 | 2014 |
Intra-mitochondrial methylation deficiency due to mutations in SLC25A26 Y Kishita, A Pajak, NA Bolar, CMT Marobbio, C Maffezzini, DV Miniero, ... The American Journal of Human Genetics 97 (5), 761-768, 2015 | 73 | 2015 |
The Bicoid Stability Factor Controls Polyadenylation and Expression of Specific Mitochondrial mRNAs in Drosophila melanogaster A Bratic, A Wredenberg, S Grönke, JB Stewart, A Mourier, B Ruzzenente, ... PLoS genetics 7 (10), e1002324, 2011 | 72 | 2011 |