Christoph Freyer

Publications
Public outreach and news

Articles

Article: HUMAN MUTATION. 2024;2024:1-16

Novel Synonymous and Deep Intronic Variants Causing Primary and Secondary Pyruvate Dehydrogenase Complex Deficiency

Bruhn H; Naess K; Ygberg S; Pena-Perez L; Lesko N; Wibom R; Freyer C; Stranneheim H; Wedell A; Wredenberg A
Article: NATURE COMMUNICATIONS. 2022;13(1):5750

ANGEL2 phosphatase activity is required for non-canonical mitochondrial RNA processing

Clemente P; Calvo-Garrido J; Pearce SF; Schober FA; Shigematsu M; Siira SJ; Laine I; Spahr H; Steinmetzger C; Petzold K; Kirino Y; Wibom R; Rackham O; Filipovska A; Rorbach J; Freyer C; Wredenberg A
Article: HUMAN MOLECULAR GENETICS. 2022;31(12):2049-2062

Pathogenic SLC25A26 variants impair SAH transport activity causing mitochondrial disease

Schober FA; Tang JX; Sergeant K; Moedas MF; Zierz CM; Moore D; Smith C; Lewis D; Guha N; Hopton S; Falkous G; Lam A; Pyle A; Poulton J; Gorman GS; Taylor RW; Freyer C; Wredenberg A
Article: STAR PROTOCOLS. 2021;2(2):100528

Protocol for the derivation, culturing, and differentiation of human iPS-cell-derived neuroepithelial stem cells to study neural differentiation in vitro

Calvo-Garrido J; Winn D; Maffezzini C; Wedell A; Freyer C; Falk A; Wredenberg A
Article: HUMAN MUTATION. 2021;42(4):378-384

Severe congenital lactic acidosis and hypertrophic cardiomyopathy caused by an intronic variant in NDUFB7

Correia SP; Moedas MF; Naess K; Bruhn H; Maffezzini C; Calvo-Garrido J; Lesko N; Wibom R; Schober FA; Jemt A; Stranneheim H; Freyer C; Wedell A; Wredenberg A
Article: NEUROLOGY-GENETICS. 2021;7(2):e566

Novel Mutation m.10372A>G in MT-ND3 Causing Sensorimotor Axonal Polyneuropathy

Bruhn H; Samuelsson K; Schober FA; Engvall M; Lesko N; Wibom R; Nennesmo I; Calvo-Garrido J; Press R; Stranneheim H; Freyer C; Wedell A; Wredenberg A
Article: GENOME MEDICINE. 2021;13(1):40

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients

Stranneheim H; Lagerstedt-Robinson K; Magnusson M; Kvarnung M; Nilsson D; Lesko N; Engvall M; Anderlid B-M; Arnell H; Johansson CB; Barbaro M; Bjorck E; Bruhn H; Eisfeldt J; Freyer C; Grigelioniene G; Gustavsson P; Hammarsjo A; Hellstrom-Pigg M; Iwarsson E; Jemt A; Laaksonen M; Enoksson SL; Malmgren H; Naess K; Nordenskjold M; Oscarson M; Pettersson M; Rasi C; Rosenbaum A; Sahlin E; Sardh E; Stodberg T; Tesi B; Tham E; Thonberg H; Tohonen V; von Dobeln U; Vassiliou D; Vonlanthen S; Wikstrom A-C; Wincent J; Winqvist O; Wredenberg A; Ygberg S; Zetterstrom RH; Marits P; Soller MJ; Nordgren A; Wirta V; Lindstrand A; Wedell A
Article: SCIENCE ADVANCES. 2021;7(8):eabf0717

The one-carbon pool controls mitochondrial energy metabolism via complex I and iron-sulfur clusters

Schober FA; Moore D; Atanassov I; Moedas MF; Clemente P; Vegvari A; El Fissi N; Filograna R; Bucher A-L; Hinze Y; The M; Hedman E; Chernogubova E; Begzati A; Wibom R; Jain M; Nilsson R; Kall L; Wedell A; Freyer C; Wredenberg A
Article: METHODS IN MOLECULAR BIOLOGY. 2021;2192:75-87

Quantitative Proteomics in Drosophila with Holidic Stable-Isotope Labeling of Amino Acids in Fruit Flies (SILAF).

Schober FA; Atanassov I; Freyer C; Wredenberg A
Article: JOURNAL OF PEDIATRICS. 2021;228:240-251.e2

Clinical Presentation, Genetic Etiology, and Coenzyme Q10 Levels in 55 Children with Combined Enzyme Deficiencies of the Mitochondrial Respiratory Chain

Naess K; Bruhn H; Stranneheim H; Freyer C; Wibom R; Mourier A; Engvall M; Nennesmo I; Lesko N; Wredenberg A; Wedell A; von Dobeln U
Article: MOLECULAR & CELLULAR PROTEOMICS. 2021;20:100065

Stable Isotope Labeling of Amino Acids in Flies (SILAF) Reveals Differential Phosphorylation of Mitochondrial Proteins Upon Loss of OXPHOS Subunits

Rosenberger FA; Atanassov I; Moore D; Calvo-Garrido J; Moedas MF; Wedell A; Freyer C; Wredenberg A
Article: NUCLEIC ACIDS RESEARCH. 2019;47(17):9386-9399

C6orf203 is an RNA-binding protein involved in mitochondrial protein synthesis

Gopalakrishna S; Pearce SF; Dinan AM; Schober FA; Cipullo M; Spahr H; Khawaja A; Maffezzini C; Freyer C; Wredenberg A; Atanassov I; Firth AE; Rorbach J
Article: PLOS GENETICS. 2019;15(7):e1008240

Defects of mitochondrial RNA turnover lead to the accumulation of double-stranded RNA in vivo

Pajak A; Laine I; Clemente P; El-Fissi N; Schober FA; Maffezzini C; Calvo-Garrido J; Wibom R; Filograna R; Dhir A; Wedell A; Freyer C; Wredenberg A
Article: MOLECULAR GENETICS & GENOMIC MEDICINE. 2019;7(6):e654

Mutations in the mitochondrial tryptophanyl-tRNA synthetase cause growth retardation and progressive leukoencephalopathy

Maffezzini C; Laine I; Dallabona C; Clemente P; Calvo-Garrido J; Wibom R; Naess K; Barbaro M; Falk A; Donnini C; Freyer C; Wredenberg A; Wedell A
Article: STEM CELL REPORTS. 2019;12(4):696-711

SQSTM1/p62-Directed Metabolic Reprogramming Is Essential for Normal Neurodifferentiation

Calvo-Garrido J; Maffezzini C; Schober FA; Clemente P; Uhlin E; Kele M; Stranneheim H; Lesko N; Bruhn H; Svenningsson P; Falk A; Wedell A; Freyer C; Wredenberg A
Article: SCIENCE ADVANCES. 2019;5(4):eaav9824

Modulation of mtDNA copy number ameliorates the pathological consequences of a heteroplasmic mtDNA mutation in the mouse

Filograna R; Koolmeister C; Upadhyay M; Pajak A; Clemente P; Wibom R; Simard ML; Wredenberg A; Freyer C; Stewart JB; Larsson NG
Article: DIABETES. 2019;68(4):709-723

Absence of TXNIP in Humans Leads to Lactic Acidosis and Low Serum Methionine Linked to Deficient Respiration on Pyruvate

Katsu-Jimenez Y; Vazquez-Calvo C; Maffezzini C; Halldin M; Peng X; Freyer C; Wredenberg A; Gimenez-Cassina A; Wedell A; Arner ESJ
Article: NATURE COMMUNICATIONS. 2019;10(1):1396

Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions

Olive M; Engvall M; Ravenscroft G; Cabrera-Serrano M; Jiao H; Bortolotti CA; Pignataro M; Lambrughi M; Jiang H; Forrest ARR; Benseny-Cases N; Hofbauer S; Obinger C; Battistuzzi G; Bellei M; Borsari M; Di Rocco G; Viola HM; Hoo LC; Cladera J; Lagerstedt-Robinson K; Xiang F; Wredenberg A; Miralles F; Jose Baiges J; Malfatti E; Romero NB; Streichenberger N; Via C; Claeys KG; Straathof CSM; Goris A; Freyer C; Lammens M; Bassez G; Kere J; Clemente P; Sejersen T; Udd B; Vidal N; Ferrer I; Edstrom L; Wedell A; Laing NG
Article: MOLECULAR GENETICS AND METABOLISM. 2017;121(3):216-223

Detection of 6-demethoxyubiquinone in CoQ₁₀ deficiency disorders: Insights into enzyme interactions and identification of potential therapeutics

Herebian D; Seibt A; Smits SHJ; Buenning G; Freyer C; Prokisch H; Karall D; Wredenberg A; Wedell A; Lopez LC; Mayatepek E; Distelmaier F
Article: HUMAN MOLECULAR GENETICS. 2017;26(13):2515-2525

A multi-systemic mitochondrial disorder due to a dominant p.Y955H disease variant in DNA polymerase gamma

Siibak T; Clemente P; Bratic A; Bruhn H; Kauppila TES; Macao B; Schober FA; Lesko N; Wibom R; Naess K; Nennesmo I; Wedell A; Peter B; Freyer C; Falkenberg M; Wredenberg A
Article: ORPHANET JOURNAL OF RARE DISEASES. 2017;12(1):73

Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model

Tegelberg S; Tomasic N; Kallijarvi J; Purhonen J; Elmer E; Lindberg E; Nord DG; Soller M; Lesko N; Wedell A; Bruhn H; Freyer C; Stranneheim H; Wibom R; Nennesmo I; Wredenberg A; Eklund EA; Fellman V
Article: CELL REPORTS. 2016;16(11):2980-2990

A Phenotype-Driven Approach to Generate Mouse Models with Pathogenic mtDNA Mutations Causing Mitochondrial Disease

Kauppila JHK; Baines HL; Bratic A; Simard M-L; Freyer C; Mourier A; Stamp C; Filograna R; Larsson N-G; Greaves LC; Stewart JB
Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2016;99(3):735-743

Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy

Haack TB; Ignatius E; Calvo-Garrido J; Iuso A; Isohanni P; Maffezzini C; Lonnqvist T; Suomalainen A; Gorza M; Kremer LS; Graf E; Hartig M; Berutti R; Paucar M; Svenningsson P; Stranneheim H; Brandberg G; Wedell A; Kurian MA; Hayflick SA; Venco P; Tiranti V; Strom TM; Dichgans M; Horvath R; Holinski-Feder E; Freyer C; Meitinger T; Prokisch H; Senderek J; Wredenberg A; Carroll CJ; Klopstock T
Article: PLOS GENETICS. 2016;12(5):e1006028

Mitochondrial Polyadenylation Is a One-Step Process Required for mRNA Integrity and tRNA Maturation

Bratic A; Clemente P; Calvo-Garrido J; Maffezzini C; Felser A; Wibom R; Wedell A; Freyer C; Wredenberg A
Article: HUMAN MOLECULAR GENETICS. 2015;24(23):6580-6587

Cyclophilin D, a target for counteracting skeletal muscle dysfunction in mitochondrial myopathy

Gineste C; Hernandez A; Ivarsson N; Cheng AJ; Naess K; Wibom R; Lesko N; Bruhn H; Wedell A; Freyer C; Zhang S-J; Carlstrom M; Lanner JT; Andersson DC; Bruton JD; Wredenberg A; Westerblad H
Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2015;97(5):761-768

Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26

Kishita Y; Pajak A; Bolar NA; Marobbio CMT; Maffezzini C; Miniero DV; Monne M; Kohda M; Stranneheim H; Murayama K; Naess K; Lesko N; Bruhn H; Mourier A; Wibom R; Nennesmo I; Jespers A; Goyaert P; Ohtake A; Van Laer L; Loeys BL; Freyer C; Palmieri F; Wredenberg A; Okazaki Y; Wedell A
Article: JOURNAL OF MEDICAL GENETICS. 2015;52(11):779-783

Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4-dihydroxybensoic acid

Freyer C; Stranneheim H; Naess K; Mourier A; Felser A; Maffezzini C; Lesko N; Bruhn H; Engvall M; Wibom R; Barbaro M; Hinze Y; Magnusson M; Andeer R; Zetterstrom RH; von Dobeln U; Wredenberg A; Wedell A
Article: NUCLEIC ACIDS RESEARCH. 2015;43(19):9262-9275

Regulation of DNA replication at the end of the mitochondrial D-loop involves the helicase TWINKLE and a conserved sequence element

Jemt E; Persson O; Shi Y; Mehmedovic M; Uhler JP; Lopez MD; Freyer C; Gustafsson CM; Samuelsson T; Falkenberg M
Article: NUCLEIC ACIDS RESEARCH. 2015;43(15):7398-7413

SUV3 helicase is required for correct processing of mitochondrial transcripts

Clemente P; Pajak A; Laine I; Wibom R; Wedell A; Freyer C; Wredenberg A
Article: BMC GENOMICS. 2014;15(1):1090

Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism

Stranneheim H; Engvall M; Naess K; Lesko N; Larsson P; Dahlberg M; Andeer R; Wredenberg A; Freyer C; Barbaro M; Bruhn H; Emahazion T; Magnusson M; Wibom R; Zetterstrom RH; Wirta V; von Dobeln U; Wedell A
Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2014;95(3):285-293

Neu-Laxova Syndrome Is a Heterogeneous Metabolic Disorder Caused by Defects in Enzymes of the L-Serine Biosynthesis Pathway

Acuna-Hidalgo R; Schanze D; Kariminejad A; Nordgren A; Kariminejad MH; Conner P; Grigelioniene G; Nilsson D; Nordenskjold M; Wedell A; Freyer C; Wredenberg A; Wieczorek D; Gillessen-Kaesbach G; Kayserili H; Elcioglu N; Ghaderi-Sohi S; Goodarzi P; Setayesh H; van de Vorst M; Steehouwer M; Pfundt R; Krabichler B; Curry C; MacKenzie MG; Boycott KM; Gilissen C; Janecke AR; Hoischen A; Zenker M
Article: NUCLEIC ACIDS RESEARCH. 2014;42(2):1111-1116

No recombination of mtDNA after heteroplasmy for 50 generations in the mouse maternal germline

Hagstrom E; Freyer C; Battersby BJ; Stewart JB; Larsson N-G
Article: NATURE. 2013;501(7467):412-415

Germline mitochondrial DNA mutations aggravate ageing and can impair brain development

Ross JM; Stewart JB; Hagstrom E; Brene S; Mourier A; Coppotelli G; Freyer C; Lagouge M; Hoffer BJ; Olson L; Larsson N-G
Article: HUMAN MOLECULAR GENETICS. 2013;22(10):1983-1993

TWINKLE is an essential mitochondrial helicase required for synthesis of nascent D-loop strands and complete mtDNA replication

Milenkovic D; Matic S; Kuhl I; Ruzzenente B; Freyer C; Jemt E; Park CB; Falkenberg M; Larsson N-G
Article: PLOS GENETICS. 2013;9(1):e1003178

MTERF3 Regulates Mitochondrial Ribosome Biogenesis in Invertebrates and Mammals

Wredenberg A; Lagouge M; Bratic A; Metodiev MD; Spahr H; Mourier A; Freyer C; Ruzzenente B; Tain L; Groenke S; Baggio F; Kukat C; Kremmer E; Wibom R; Polosa PL; Habermann B; Partridge L; Park CB; Larsson N-G
Article: NATURE GENETICS. 2012;44(11):1282-1285

Variation in germline mtDNA heteroplasmy is determined prenatally but modified during subsequent transmission

Freyer C; Cree LM; Mourier A; Stewart JB; Koolmeister C; Milenkovic D; Wai T; Floros VI; Hagstrom E; Chatzidaki EE; Wiesner RJ; Samuels DC; Larsson N-G; Chinnery PF
Article: PLOS GENETICS. 2011;7(3):e1002028

Ultra-Deep Sequencing of Mouse Mitochondrial DNA: Mutational Patterns and Their Origins

Ameur A; Stewart JB; Freyer C; Hagstrom E; Ingman M; Larsson N-G; Gyllensten U
Article: NUCLEIC ACIDS RESEARCH. 2010;38(19):6577-6588

Maintenance of respiratory chain function in mouse hearts with severely impaired mtDNA transcription

Freyer C; Park CB; Ekstrand MI; Shi Y; Khvorostova J; Wibom R; Falkenberg M; Gustafsson CM; Larsson N-G
Article: PLOS BIOLOGY. 2008;6(1):e10-71

Strong purifying selection in transmission of mammalian mitochondrial DNA

Stewart JB; Freyer C; Elson JL; Wredenberg A; Cansu Z; Trifunovic A; Larsson N-G
Article: BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS. 2006;350(1):202-207

Respiratory chain dysfunction in skeletal muscle does not cause insulin resistance

Wredenberg A; Freyer C; Sandstrom ME; Katz A; Wibom R; Westerblad H; Larsson N-G
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Review: CELLULAR AND MOLECULAR LIFE SCIENCES. 2020;77(13):2483-2496

Metabolic regulation of neurodifferentiation in the adult brain

Maffezzini C; Calvo-Garrido J; Wredenberg A; Freyer C
Editorial comment: NEUROLOGY. 2018;91(15):710-712

Chorea, psychosis, acanthocytosis, and prolonged survival associated with ELAC2 mutations

Paucar M; Pajak A; Freyer C; Bergendal A; Dory M; Laffita-Mesa JM; Stranneheim H; Lagerstedt-Robinson K; Savitcheva I; Walker RH; Wedell A; Wredenberg A; Svenningsson P
Published conference paper: BIOCHIMICA ET BIOPHYSICA ACTA: INTERNATIONAL JOURNAL OF BIOCHEMISTRY AND BIOPHYSICS. 2009;1787(5):484-490

MtDNA mutations are a common cause of severe disease phenotypes in children with Leigh syndrome

Naess K; Freyer C; Bruhn H; Wibom R; Malm G; Nennesmo I; von Dobeln U; Larsson N-G
Review: NATURE REVIEWS GENETICS. 2008;9(9):657-662

Purifying selection of mtDNA and its implications for understanding evolution and mitochondrial disease

Stewart JB; Freyer C; Elson JL; Larsson N-G
Meeting abstract: BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS. 2008;1777:S80

A genetic system to study mitochondrial DNA mutations and their propagation in mice

Stewart JB; Freyer C; Elson JL; Wredenberg A; Cansu Z; Trifunovic A; Larsson N-G
Editorial comment: CELL. 2007;131(3):448-450

Is energy deficiency good in moderation?

Freyer C; Larsson N-G

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