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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, et al
Human molecular genetics 2017;26(13):2515-2525

Detection of 6-demethoxyubiquinone in CoQ10 deficiency disorders: Insights into enzyme interactions and identification of potential therapeutics
Herebian D, Seibt A, Smits Shj, Bünning G, Freyer C, Prokisch H, et al
Molecular genetics and metabolism 2017;121(3):216-223

Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model
Tegelberg S, Tomašić N, Kallijärvi J, Purhonen J, Elmér E, Lindberg E, et al
Orphanet journal of rare diseases 2017;12(1):73-

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, et al
American journal of human genetics 2016;99(3):735-743

A Phenotype-Driven Approach to Generate Mouse Models with Pathogenic mtDNA Mutations Causing Mitochondrial Disease
Kauppila Jhk, Baines Hl, Bratic A, Simard Ml, Freyer C, Mourier A, et al
Cell reports 2016;16(11):2980-2990

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, et al
PLoS genetics 2016;12(5):e1006028-

Cyclophilin D, a target for counteracting skeletal muscle dysfunction in mitochondrial myopathy
Gineste C, Hernandez A, Ivarsson N, Cheng Aj, Naess K, Wibom R, et al
Human molecular genetics 2015;24(23):6580-7

Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26
Kishita Y, Pajak A, Bolar Na, Marobbio Cm, Maffezzini C, Miniero Dv, et al
American journal of human genetics 2015;97(5):761-8

Regulation of DNA replication at the end of the mitochondrial D-loop involves the helicase TWINKLE and a conserved sequence element
Jemt E, Persson Ö, Shi Y, Mehmedovic M, Uhler Jp, Dávila López M, et al
Nucleic acids research 2015;43(19):9262-75

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, et al
Journal of medical genetics 2015;52(11):779-83

SUV3 helicase is required for correct processing of mitochondrial transcripts
Clemente P, Pajak A, Laine I, Wibom R, Wedell A, Freyer C, et al
Nucleic acids research 2015;43(15):7398-413

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, et al
American journal of human genetics 2014;95(3):285-93

No recombination of mtDNA after heteroplasmy for 50 generations in the mouse maternal germline
Hagström E, Freyer C, Battersby Bj, Stewart Jb, Larsson Ng
Nucleic acids research 2014;42(2):1111-6

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, et al
BMC genomics 2014;15():1090-

Germline mitochondrial DNA mutations aggravate ageing and can impair brain development
Ross Jm, Stewart Jb, Hagström E, Brené S, Mourier A, Coppotelli G, et al
Nature 2013;501(7467):412-5

MTERF3 regulates mitochondrial ribosome biogenesis in invertebrates and mammals
Wredenberg A, Lagouge M, Bratic A, Metodiev Md, Spåhr H, Mourier A, et al
PLoS genetics 2013;9(1):e1003178-

TWINKLE is an essential mitochondrial helicase required for synthesis of nascent D-loop strands and complete mtDNA replication
Milenkovic D, Matic S, Kühl I, Ruzzenente B, Freyer C, Jemt E, et al
Human molecular genetics 2013;22(10):1983-93

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, et al
NATURE GENETICS 2012;44(11):1282-5

Ultra-Deep Sequencing of Mouse Mitochondrial DNA: Mutational Patterns and Their Origins
Ameur A, Stewart Jb, Freyer C, Hagstrom E, Ingman M, Larsson Ng, et al
PLOS GENETICS 2011;7(3):e1002028-

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, et al
NUCLEIC ACIDS RESEARCH 2010;38(19):6577-88

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, et al

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, et al

Purifying selection of mtDNA and its implications for understanding evolution and mitochondrial disease
Stewart Jb, Freyer C, Elson Jl, Larsson Ng

Strong purifying selection in transmission of mammalian mitochondrial DNA
Stewart Jb, Freyer C, Elson Jl, Wredenberg A, Cansu Z, Trifunovic A, et al
PLOS BIOLOGY 2008;6(1):e10-

Is energy deficiency good in moderation?
Freyer C, Larsson Ng
CELL 2007;131(3):448-50

Respiratory chain dysfunction in skeletal muscle does not cause insulin resistance
Wredenberg A, Freyer C, Sandstrom Me, Katz A, Wibom R, Westerblad H, et al

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