Publications by authors named "Anna Wredenberg"

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

mutations cause NKCC1 deficiency with encephalopathy and impaired secretory epithelia.

Neurol Genet 2020 Aug 2;6(4):e478. Epub 2020 Jul 2.

Department of Women's and Children's Health (T.S.), Department of Molecular Medicine and Surgery (M.M., N.L., H.S., A. Wedell), Science for Life Laboratory (M.M., H.S., A. Wedell), Department of Medical Biochemistry and Biophysics (A. Wredenberg), and Department of Clinical Neuroscience (D.M.M.), Karolinska Institutet; and Department of Pediatric Neurology (T.S.), Centre for Inherited Metabolic Diseases (N.L., A. Wredenberg, H.S., A. Wedell), and Department of Neuroradiology (D.M.M.), Karolinska University Hospital, Stockholm, Sweden.

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http://dx.doi.org/10.1212/NXG.0000000000000478DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7357422PMC
August 2020

FBXL4 deficiency increases mitochondrial removal by autophagy.

EMBO Mol Med 2020 Jul 11;12(7):e11659. Epub 2020 Jun 11.

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

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http://dx.doi.org/10.15252/emmm.201911659DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7338799PMC
July 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

Increased mitochondrial Ca2+ and decreased sarcoplasmic reticulum Ca2+ in mitochondrial myopathy.

Hum Mol Genet 2009 Jan 22;18(2):278-88. Epub 2008 Oct 22.

Present address: Max Planck Institute for Biology of Ageing, Gleueler Str. 50a, Cologne, Germany.

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http://dx.doi.org/10.1093/hmg/ddn355DOI Listing
January 2009

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

Increased mitochondrial mass in mitochondrial myopathy mice.

Proc Natl Acad Sci U S A 2002 Nov 4;99(23):15066-71. Epub 2002 Nov 4.

Department of Medical Nutrition and Biosciences, Karolinska Institute, Huddinge Hospital, Sweden.

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http://www.pnas.org/cgi/doi/10.1073/pnas.232591499
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http://dx.doi.org/10.1073/pnas.232591499DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC137544PMC
November 2002