Publications by authors named "Christoph Freyer"

35Publications

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

Methods Mol Biol 2021 ;2192:75-87

Max Planck Institute Biology of Ageing - Karolinska Institutet Laboratory, Division of Molecular Metabolism, Department of Laboratory Medicine, Karolinska Institutet, Stockholm, Sweden.

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http://dx.doi.org/10.1007/978-1-0716-0834-0_7DOI Listing
January 2021

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

J Pediatr 2020 Aug 19. Epub 2020 Aug 19.

Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden.

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http://dx.doi.org/10.1016/j.jpeds.2020.08.025DOI Listing
August 2020

Metabolic regulation of neurodifferentiation in the adult brain.

Cell Mol Life Sci 2020 Jul 7;77(13):2483-2496. Epub 2020 Jan 7.

Max Planck Institute Biology of Ageing-Karolinska Institutet Laboratory, Karolinska Institutet, Stockholm, Sweden.

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http://dx.doi.org/10.1007/s00018-019-03430-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7320050PMC
July 2020

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

Nucleic Acids Res 2019 09;47(17):9386-9399

Department of Medical Biochemistry and Biophysics, Division of Molecular Metabolism, Karolinska Institutet, Solnavägen 9, 171 77 Stockholm, Sweden.

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http://dx.doi.org/10.1093/nar/gkz684DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6755124PMC
September 2019

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

Stem Cell Reports 2019 04 28;12(4):696-711. Epub 2019 Feb 28.

Max Planck Institute Biology of Ageing - Karolinska Institutet Laboratory, Karolinska Institutet, 171 65 Stockholm, Sweden; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, 171 65 Stockholm, Sweden; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, 171 76 Stockholm, Sweden. Electronic address:

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http://dx.doi.org/10.1016/j.stemcr.2019.01.023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6449840PMC
April 2019

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

Diabetes 2019 04 12;68(4):709-723. Epub 2019 Feb 12.

Division of Biochemistry, Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden

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http://dx.doi.org/10.2337/db18-0557DOI Listing
April 2019

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

Neurology 2018 10 14;91(15):710-712. Epub 2018 Sep 14.

From Karolinska University Hospital (M.P., A.P., C.F., M.D., J.L.-M., H.S., K.L., I.S., A. Wedell, A. Wredenberg, P.S.); Karolinska Institutet (M.P., A.P., C.F., Å.B., K.L., A. Wedell, A. Wredenberg, P.S.), Stockholm, Sweden; James J. Peters Veterans Medical Affair Center (R.H.W.), Bronx; and Mount Sinai School of Medicine (R.H.W.), New York, NY.

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000006320DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6177277PMC
October 2018

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

Mol Genet Metab 2017 07 20;121(3):216-223. Epub 2017 May 20.

Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine-University Düsseldorf, Moorenstr. 5, 40225 Düsseldorf, Germany. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10967192173010
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http://dx.doi.org/10.1016/j.ymgme.2017.05.012DOI Listing
July 2017

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

Hum Mol Genet 2017 07;26(13):2515-2525

Max Planck Institute Biology of Ageing - Karolinska Institutet Laboratory, Division of Metabolic Diseases, Department of Laboratory Medicine, Karolinska Institutet, Stockholm, SE-171 77, Sweden.

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http://dx.doi.org/10.1093/hmg/ddx146DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5886115PMC
July 2017

Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26.

Am J Hum Genet 2015 Nov 29;97(5):761-8. Epub 2015 Oct 29.

Max Planck Institute Biology of Ageing - Karolinska Institutet Laboratory, Division of Metabolic Diseases, Department of Laboratory Medicine, Karolinska Institutet, 171 77 Stockholm, Sweden; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, 171 76 Stockholm, Sweden; Science for Life Laboratory and Department of Molecular Medicine and Surgery, Karolinska Institutet, 171 76 Stockholm, Sweden.

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http://dx.doi.org/10.1016/j.ajhg.2015.09.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4667130PMC
November 2015

SUV3 helicase is required for correct processing of mitochondrial transcripts.

Nucleic Acids Res 2015 Sep 7;43(15):7398-413. Epub 2015 Jul 7.

Division of Metabolic Diseases, Department of Laboratory Medicine; Karolinska Institutet, Stockholm 17177, Sweden Center for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm 17176, Sweden

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http://dx.doi.org/10.1093/nar/gkv692DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4551930PMC
September 2015

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

J Med Genet 2015 Nov 17;52(11):779-83. Epub 2015 Jun 17.

Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden Max Planck Institute Biology of Ageing - Karolinska Institutet Laboratory, Division of Metabolic Diseases, Department of Laboratory Medicine, Karolinska Institutet, Stockholm, Sweden Department of Molecular Medicine and Surgery, Science for Life Laboratory, Karolinska Institutet, Stockholm, Sweden.

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http://jmg.bmj.com/lookup/doi/10.1136/jmedgenet-2015-102986
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http://dx.doi.org/10.1136/jmedgenet-2015-102986DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4680133PMC
November 2015

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

Nucleic Acids Res 2014 Jan 25;42(2):1111-6. Epub 2013 Oct 25.

Department of Laboratory Medicine, Karolinska Institutet, S-17177 Stockholm, Sweden, Research Programs Unit - Molecular Neurology, Biomedicum Helsinki, University of Helsinki, 00290 Finland and Max Planck Institute for Biology of Ageing, D-50931 Cologne, Germany.

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https://academic.oup.com/nar/article-lookup/doi/10.1093/nar/
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http://dx.doi.org/10.1093/nar/gkt969DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3902947PMC
January 2014

Ultra-deep sequencing of mouse mitochondrial DNA: mutational patterns and their origins.

PLoS Genet 2011 Mar 24;7(3):e1002028. Epub 2011 Mar 24.

Department of Immunology, Genetics, and Pathology, SciLifeLab Uppsala, Rudbeck Laboratory, Uppsala University, Uppsala, Sweden.

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http://dx.doi.org/10.1371/journal.pgen.1002028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3063763PMC
March 2011

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

Biochim Biophys Acta 2009 May 6;1787(5):484-90. Epub 2008 Dec 6.

Department of Clinical Sciences, Karolinska University Hospital, S-141 86 Stockholm, Sweden.

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http://dx.doi.org/10.1016/j.bbabio.2008.11.014DOI Listing
May 2009

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

Nat Rev Genet 2008 09;9(9):657-62

Department of Laboratory Medicine, Division of Metabolic Diseases, Karolinska Institutet, Stockholm, Sweden.

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http://www.nature.com/articles/nrg2396
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http://dx.doi.org/10.1038/nrg2396DOI Listing
September 2008

Is energy deficiency good in moderation?

Cell 2007 Nov;131(3):448-50

Department of Laboratory Medicine, Karolinska Institutet, 141 86, Stockholm, Sweden.

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http://dx.doi.org/10.1016/j.cell.2007.10.027DOI Listing
November 2007

Respiratory chain dysfunction in skeletal muscle does not cause insulin resistance.

Biochem Biophys Res Commun 2006 Nov 18;350(1):202-7. Epub 2006 Sep 18.

Department of Laboratory Medicine, Karolinska Insitutet, Karolinska University Hospital, Stockholm, Sweden.

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https://linkinghub.elsevier.com/retrieve/pii/S0006291X060205
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http://dx.doi.org/10.1016/j.bbrc.2006.09.029DOI Listing
November 2006