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C. Freyer · SciRah

Researcher profile · Semantic Scholar

C. Freyer

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C. Freyer — researcher profile on SciRah

h-index: 29
Works: 66
Citations: 3,738

Most-cited papers

Strong Purifying Selection in Transmission of Mammalian Mitochondrial DNA
J. Stewart, C. Freyer, J. Elson, A. Wredenberg +3 more
2008PLoS Biology518 citations Open access
Semantic Scholar
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, Måns Magnusson, M. Kvarnung +48 more
2021Genome Medicine255 citations Open access
Semantic Scholar
Ultra-Deep Sequencing of Mouse Mitochondrial DNA: Mutational Patterns and Their Origins
A. Ameur, J. Stewart, C. Freyer, Erika Hagström +3 more
2011PLoS Genetics196 citations Open access
Semantic Scholar
Purifying selection of mtDNA and its implications for understanding evolution and mitochondrial disease
J. Stewart, C. Freyer, J. Elson, N. Larsson
2008Nature reviews genetics185 citations Open access
Semantic Scholar
Germline mtDNA mutations aggravate ageing and can impair brain development
J. M. Ross, J. Stewart, Erika Hagström, S. Brené +7 more
2013Nature175 citations Open access
Semantic Scholar
TWINKLE is an essential mitochondrial helicase required for synthesis of nascent D-loop strands and complete mtDNA replication
Dusanka Milenkovic, Stanka Matic, Inge Kühl, Benedetta Ruzzenente +5 more
2013Human Molecular Genetics169 citations Open access
Semantic Scholar
Respiratory chain dysfunction in skeletal muscle does not cause insulin resistance.
A. Wredenberg, C. Freyer, Marie E. Sandström, A. Katz +3 more
2006Biochemical and Biophysical Research Communications - BBRC158 citations
Semantic Scholar
A Phenotype-Driven Approach to Generate Mouse Models with Pathogenic mtDNA Mutations Causing Mitochondrial Disease
Johanna H. K. Kauppila, Holly L. Baines, A. Bratić, M. Simard +7 more
2016Cell Reports140 citations Open access
Semantic Scholar
Variation in germ line mtDNA heteroplasmy is determined prenatally but modified during subsequent transmission
C. Freyer, L. Cree, A. Mourier, J. Stewart +10 more
2012Nature Genetics136 citations Open access
Semantic Scholar
Modulation of mtDNA copy number ameliorates the pathological consequences of a heteroplasmic mtDNA mutation in the mouse
R. Filograna, C. Koolmeister, M. Upadhyay, A. Pająk +7 more
2019Science Advances128 citations Open access
Semantic Scholar
Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway.
Rocio Acuna-Hidalgo, D. Schanze, A. Kariminejad, A. Nordgren +26 more
2014American Journal of Human Genetics125 citations Open access
Semantic Scholar
Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy.
T. Haack, Erika Ignatius, Javier Calvo-Garrido, Arcangela Iuso +29 more
2016American Journal of Human Genetics119 citations Open access
Semantic Scholar
Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4–dihydroxybensoic acid
C. Freyer, H. Stranneheim, Karin Naess, A. Mourier +14 more
2015Journal of Medical Genetics112 citations Open access
Semantic Scholar
Regulation of DNA replication at the end of the mitochondrial D-loop involves the helicase TWINKLE and a conserved sequence element
Elisabeth Jemt, Örjan Persson, Yong-Hong Shi, M. Mehmedović +6 more
2015Nucleic Acids Research111 citations Open access
Semantic Scholar
No recombination of mtDNA after heteroplasmy for 50 generations in the mouse maternal germline
Erika Hagström, C. Freyer, B. Battersby, J. Stewart +1 more
2013Nucleic Acids Research110 citations Open access
Semantic Scholar
MTERF3 Regulates Mitochondrial Ribosome Biogenesis in Invertebrates and Mammals
A. Wredenberg, Marie Lagouge, A. Bratić, Metodi D. Metodiev +15 more
2013PLoS Genetics102 citations Open access
Semantic Scholar
Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26
Yoshihito Kishita, A. Pająk, N. Bolar, C. M. Marobbio +22 more
2015American Journal of Human Genetics80 citations Open access
Semantic Scholar
Metabolic regulation of neurodifferentiation in the adult brain
Camilla Maffezzini, Javier Calvo-Garrido, A. Wredenberg, C. Freyer
2020Cellular and Molecular Life Sciences75 citations Open access
Semantic Scholar
Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism
H. Stranneheim, M. Engvall, Karin Naess, N. Lesko +14 more
2014BMC Genomics69 citations Open access
Semantic Scholar
Mitochondrial Polyadenylation Is a One-Step Process Required for mRNA Integrity and tRNA Maturation
A. Bratić, P. Clemente, Javier Calvo-Garrido, Camilla Maffezzini +5 more
2016PLoS Genetics63 citations Open access
Semantic Scholar
MtDNA mutations are a common cause of severe disease phenotypes in children with Leigh syndrome.
Karin Naess, C. Freyer, Helene Bruhn, R. Wibom +4 more
2009Biochimica et Biophysica Acta63 citations Open access
Semantic Scholar
The one-carbon pool controls mitochondrial energy metabolism via complex I and iron-sulfur clusters
Florian A. Schober, David Moore, I. Atanassov, M. Moedas +17 more
2021Science Advances55 citations Open access
Semantic Scholar
Defects of mitochondrial RNA turnover lead to the accumulation of double-stranded RNA in vivo
A. Pająk, Isabelle Laine, P. Clemente, Najla El-Fissi +9 more
2019PLoS Genetics55 citations Open access
Semantic Scholar
SQSTM1/p62-Directed Metabolic Reprogramming Is Essential for Normal Neurodifferentiation
Javier Calvo-Garrido, Camilla Maffezzini, Florian A. Schober, P. Clemente +10 more
2019Stem Cell Reports41 citations Open access
Semantic Scholar
Maintenance of respiratory chain function in mouse hearts with severely impaired mtDNA transcription
C. Freyer, Chan Bae Park, Mats I. Ekstrand, Yong-Hong Shi +5 more
2010Nucleic Acids Research40 citations Open access
Semantic Scholar
When authoritarianism meets religion: Sacrificing others in the name of abstract deontology
Matthieu Van Pachterbeke, C. Freyer, Vassilis Saroglou
201139 citations
Semantic Scholar
Detection of 6-demethoxyubiquinone in CoQ10 deficiency disorders: Insights into enzyme interactions and identification of potential therapeutics.
D. Herebian, A. Seibt, S. Smits, Gisela Bünning +8 more
2017Molecular Genetics and Metabolism36 citations
Semantic Scholar
Absence of TXNIP in Humans Leads to Lactic Acidosis and Low Serum Methionine Linked to Deficient Respiration on Pyruvate
Yurika Katsu-Jiménez, Carmela Vazquez-Calvo, Camilla Maffezzini, M. Halldin +6 more
2019Diabetes35 citations Open access
Semantic Scholar
C6orf203 is an RNA-binding protein involved in mitochondrial protein synthesis
Shreekara Gopalakrishna, Sarah F. Pearce, Adam M. Dinan, Florian A. Schober +9 more
2019Nucleic Acids Research32 citations Open access
Semantic Scholar
Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model
Saara Tegelberg, Nikica Tomašić, J. Kallijärvi, J. Purhonen +14 more
2017Orphanet Journal of Rare Diseases26 citations Open access
Semantic Scholar
SUV3 helicase is required for correct processing of mitochondrial transcripts
P. Clemente, A. Pająk, Isabelle Laine, R. Wibom +3 more
2015Nucleic Acids Research25 citations Open access
Semantic Scholar
Mutations in the mitochondrial tryptophanyl‐tRNA synthetase cause growth retardation and progressive leukoencephalopathy
Camilla Maffezzini, Isabelle Laine, C. Dallabona, P. Clemente +9 more
2019Molecular Genetics & Genomic Medicine23 citations Open access
Semantic Scholar
Cyclophilin D, a target for counteracting skeletal muscle dysfunction in mitochondrial myopathy.
C. Gineste, A. Hernández, Niklas Ivarsson, Arthur J. Cheng +13 more
2015Human Molecular Genetics21 citations Open access
Semantic Scholar
Protocol for the derivation, culturing, and differentiation of human iPS-cell-derived neuroepithelial stem cells to study neural differentiation in vitro
Javier Calvo-Garrido, Dania Winn, Camilla Maffezzini, A. Wedell +3 more
2021STAR Protocols20 citations Open access
Semantic Scholar
Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions
M. Olivé, M. Engvall, G. Ravenscroft, M. Cabrera-Serrano +40 more
2019Nature Communications19 citations Open access
Semantic Scholar
A multi-systemic mitochondrial disorder due to a dominant p.Y955H disease variant in DNA polymerase gamma
Triinu Siibak, P. Clemente, A. Bratić, Helene Bruhn +12 more
2017Human Molecular Genetics19 citations Open access
Semantic Scholar
Severe congenital lactic acidosis and hypertrophic cardiomyopathy caused by an intronic variant in NDUFB7
S. Correia, M. Moedas, Karin Naess, Helene Bruhn +10 more
2021Human Mutation17 citations Open access
Semantic Scholar
ANGEL2 phosphatase activity is required for non-canonical mitochondrial RNA processing
P. Clemente, Javier Calvo-Garrido, Sarah F. Pearce, Florian A. Schober +13 more
2022Nature Communications15 citations Open access
Semantic Scholar
Chorea, psychosis, acanthocytosis, and prolonged survival associated with ELAC2 mutations
M. Paucar, A. Pająk, C. Freyer, Å. Bergendal +9 more
2018Neurology14 citations Open access
Semantic Scholar
Quantitative proteomics of patient fibroblasts reveal biomarkers and diagnostic signatures of mitochondrial disease
S. Correia, M. Moedas, Lucie S Taylor, Karin Naess +16 more
2024JCI Insight13 citations Open access
Semantic Scholar
Clinical Presentation, Genetic Etiology and Coenzyme Q10 Level in 55 Children with Combined Enzyme Deficiencies of the Mitochondrial Respiratory Chain.
Karin Naess, Helene Bruhn, H. Stranneheim, C. Freyer +8 more
2020Jornal de Pediatria13 citations
Semantic Scholar
The mitochondrial methylation potential gates mitoribosome assembly
R. I. Glasgow, Vivek Singh, L. Peña-Pérez, Alissa Wilhalm +12 more
2025Nature Communications12 citations Open access
Semantic Scholar
Is energy deficiency good in moderation?
C. Freyer, N. Larsson
2007Cell12 citations Open access
Semantic Scholar
The molecular machinery for maturation of primary mtDNA transcripts
Ana Vučković, C. Freyer, A. Wredenberg, H. S. Hillen
2024Human Molecular Genetics11 citations Open access
Semantic Scholar
Stable Isotope Labeling of Amino Acids in Flies (SILAF) Reveals Differential Phosphorylation of Mitochondrial Proteins Upon Loss of OXPHOS Subunits
Florian A. Schober, I. Atanassov, David Moore, Javier Calvo-Garrido +4 more
2021Molecular & Cellular Proteomics11 citations Open access
Semantic Scholar
Novel Mutation m.10372A>G in MT-ND3 Causing Sensorimotor Axonal Polyneuropathy
Helene Bruhn, K. Samuelsson, Florian A. Schober, M. Engvall +9 more
2021Neurology: Genetics6 citations Open access
Semantic Scholar
Advancing a sensitive method for measuring mitochondrial ATP production in small muscle biopsy samples.
R. Wibom, David Alsina, Karin Naess, M. Engvall +3 more
2025Analytical Biochemistry5 citations Open access
Semantic Scholar
Preventing excessive autophagy protects from the pathology of mtDNA mutations in Drosophila melanogaster
Najla El Fissi, F. Rosenberger, Kai Chang, Alissa Wilhalm +9 more
2024Nature Communications5 citations Open access
Semantic Scholar
Pathogenic SLC25A26 variants impair SAH transport activity causing mitochondrial disease
F. Rosenberger, Jia Tang, K. Sergeant, M. Moedas +14 more
2022Human Molecular Genetics5 citations Open access
Semantic Scholar
The mitochondrial methylation potential gates mitoribosome assembly
R. I. Glasgow, Vivek Singh, L. Peña-Pérez, Alissa Wilhalm +12 more
2024bioRxiv4 citations Open access
Semantic Scholar

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