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Items: 34

1.

Metabolic regulation of neurodifferentiation in the adult brain.

Maffezzini C, Calvo-Garrido J, Wredenberg A, Freyer C.

Cell Mol Life Sci. 2020 Jan 7. doi: 10.1007/s00018-019-03430-9. [Epub ahead of print] Review.

PMID:
31912194
2.

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

Gopalakrishna S, Pearce SF, Dinan AM, Schober FA, Cipullo M, Spåhr H, Khawaja A, Maffezzini C, Freyer C, Wredenberg A, Atanassov I, Firth AE, Rorbach J.

Nucleic Acids Res. 2019 Sep 26;47(17):9386-9399. doi: 10.1093/nar/gkz684.

3.

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.

PLoS Genet. 2019 Jul 31;15(7):e1008240. doi: 10.1371/journal.pgen.1008240. eCollection 2019 Jul.

4.

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.

Sci Adv. 2019 Apr 3;5(4):eaav9824. doi: 10.1126/sciadv.aav9824. eCollection 2019 Apr.

5.

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.

Mol Genet Genomic Med. 2019 Jun;7(6):e654. doi: 10.1002/mgg3.654. Epub 2019 Mar 28.

6.

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

Olivé 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, Hool LC, Cladera J, Lagerstedt-Robinson K, Xiang F, Wredenberg A, Miralles F, Baiges JJ, Malfatti E, Romero NB, Streichenberger N, Vial 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, Edström L, Wedell A, Laing NG.

Nat Commun. 2019 Mar 27;10(1):1396. doi: 10.1038/s41467-019-09111-2.

7.

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.

Stem Cell Reports. 2019 Apr 9;12(4):696-711. doi: 10.1016/j.stemcr.2019.01.023. Epub 2019 Feb 28.

8.

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

Katsu-Jiménez Y, Vázquez-Calvo C, Maffezzini C, Halldin M, Peng X, Freyer C, Wredenberg A, Giménez-Cassina A, Wedell A, Arnér ESJ.

Diabetes. 2019 Apr;68(4):709-723. doi: 10.2337/db18-0557. Epub 2019 Feb 12.

9.

RNA modification landscape of the human mitochondrial tRNALys regulates protein synthesis.

Richter U, Evans ME, Clark WC, Marttinen P, Shoubridge EA, Suomalainen A, Wredenberg A, Wedell A, Pan T, Battersby BJ.

Nat Commun. 2018 Sep 27;9(1):3966. doi: 10.1038/s41467-018-06471-z.

10.

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

Paucar M, Pajak A, Freyer C, Bergendal Å, Döry M, Laffita-Mesa JM, Stranneheim H, Lagerstedt-Robinson K, Savitcheva I, Walker RH, Wedell A, Wredenberg A, Svenningsson P.

Neurology. 2018 Oct 9;91(15):710-712. doi: 10.1212/WNL.0000000000006320. Epub 2018 Sep 14. No abstract available.

11.

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, Karall D, Wredenberg A, Wedell A, López LC, Mayatepek E, Distelmaier F.

Mol Genet Metab. 2017 Jul;121(3):216-223. doi: 10.1016/j.ymgme.2017.05.012. Epub 2017 May 20.

PMID:
28552678
12.

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.

Hum Mol Genet. 2017 Jul 1;26(13):2515-2525. doi: 10.1093/hmg/ddx146.

13.

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, Nord DG, Soller M, Lesko N, Wedell A, Bruhn H, Freyer C, Stranneheim H, Wibom R, Nennesmo I, Wredenberg A, Eklund EA, Fellman V.

Orphanet J Rare Dis. 2017 Apr 20;12(1):73. doi: 10.1186/s13023-017-0624-2.

14.

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, Lönnqvist 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.

Am J Hum Genet. 2016 Sep 1;99(3):735-743. doi: 10.1016/j.ajhg.2016.06.026. Epub 2016 Aug 18.

15.

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.

PLoS Genet. 2016 May 13;12(5):e1006028. doi: 10.1371/journal.pgen.1006028. eCollection 2016 May.

16.

Complementation between polymerase- and exonuclease-deficient mitochondrial DNA polymerase mutants in genomically engineered flies.

Bratic A, Kauppila TE, Macao B, Grönke S, Siibak T, Stewart JB, Baggio F, Dols J, Partridge L, Falkenberg M, Wredenberg A, Larsson NG.

Nat Commun. 2015 Nov 10;6:8808. doi: 10.1038/ncomms9808.

17.

Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26.

Kishita Y, Pajak A, Bolar NA, Marobbio CM, Maffezzini C, Miniero DV, Monné M, Kohda M, Stranneheim H, Murayama K, Naess K, Lesko N, Bruhn H, Mourier A, Wibom R, Nennesmo I, Jespers A, Govaert P, Ohtake A, Van Laer L, Loeys BL, Freyer C, Palmieri F, Wredenberg A, Okazaki Y, Wedell A.

Am J Hum Genet. 2015 Nov 5;97(5):761-8. doi: 10.1016/j.ajhg.2015.09.013. Epub 2015 Oct 29.

18.

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 SJ, Carlström M, Lanner JT, Andersson DC, Bruton JD, Wredenberg A, Westerblad H.

Hum Mol Genet. 2015 Dec 1;24(23):6580-7. doi: 10.1093/hmg/ddv361. Epub 2015 Sep 14.

19.

SUV3 helicase is required for correct processing of mitochondrial transcripts.

Clemente P, Pajak A, Laine I, Wibom R, Wedell A, Freyer C, Wredenberg A.

Nucleic Acids Res. 2015 Sep 3;43(15):7398-413. doi: 10.1093/nar/gkv692. Epub 2015 Jul 7.

20.

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, Zetterström RH, von Döbeln U, Wredenberg A, Wedell A.

J Med Genet. 2015 Nov;52(11):779-83. doi: 10.1136/jmedgenet-2015-102986. Epub 2015 Jun 17.

21.

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, Zetterström RH, Wirta V, von Döbeln U, Wedell A.

BMC Genomics. 2014 Dec 11;15:1090. doi: 10.1186/1471-2164-15-1090.

22.

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, Nordenskjöld 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.

Am J Hum Genet. 2014 Sep 4;95(3):285-93. doi: 10.1016/j.ajhg.2014.07.012. Epub 2014 Aug 21.

23.

MTERF3 regulates mitochondrial ribosome biogenesis in invertebrates and mammals.

Wredenberg A, Lagouge M, Bratic A, Metodiev MD, Spåhr H, Mourier A, Freyer C, Ruzzenente B, Tain L, Grönke S, Baggio F, Kukat C, Kremmer E, Wibom R, Polosa PL, Habermann B, Partridge L, Park CB, Larsson NG.

PLoS Genet. 2013;9(1):e1003178. doi: 10.1371/journal.pgen.1003178. Epub 2013 Jan 3.

24.

LRPPRC is necessary for polyadenylation and coordination of translation of mitochondrial mRNAs.

Ruzzenente B, Metodiev MD, Wredenberg A, Bratic A, Park CB, Cámara Y, Milenkovic D, Zickermann V, Wibom R, Hultenby K, Erdjument-Bromage H, Tempst P, Brandt U, Stewart JB, Gustafsson CM, Larsson NG.

EMBO J. 2012 Jan 18;31(2):443-56. doi: 10.1038/emboj.2011.392. Epub 2011 Nov 1.

25.

The bicoid stability factor controls polyadenylation and expression of specific mitochondrial mRNAs in Drosophila melanogaster.

Bratic A, Wredenberg A, Grönke S, Stewart JB, Mourier A, Ruzzenente B, Kukat C, Wibom R, Habermann B, Partridge L, Larsson NG.

PLoS Genet. 2011 Oct;7(10):e1002324. doi: 10.1371/journal.pgen.1002324. Epub 2011 Oct 13.

26.

Random point mutations with major effects on protein-coding genes are the driving force behind premature aging in mtDNA mutator mice.

Edgar D, Shabalina I, Camara Y, Wredenberg A, Calvaruso MA, Nijtmans L, Nedergaard J, Cannon B, Larsson NG, Trifunovic A.

Cell Metab. 2009 Aug;10(2):131-8. doi: 10.1016/j.cmet.2009.06.010.

27.

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

Aydin J, Andersson DC, Hänninen SL, Wredenberg A, Tavi P, Park CB, Larsson NG, Bruton JD, Westerblad H.

Hum Mol Genet. 2009 Jan 15;18(2):278-88. doi: 10.1093/hmg/ddn355. Epub 2008 Oct 22.

PMID:
18945718
28.

Strong purifying selection in transmission of mammalian mitochondrial DNA.

Stewart JB, Freyer C, Elson JL, Wredenberg A, Cansu Z, Trifunovic A, Larsson NG.

PLoS Biol. 2008 Jan;6(1):e10. doi: 10.1371/journal.pbio.0060010.

29.

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

Wredenberg A, Freyer C, Sandström ME, Katz A, Wibom R, Westerblad H, Larsson NG.

Biochem Biophys Res Commun. 2006 Nov 10;350(1):202-7. Epub 2006 Sep 18.

PMID:
16996481
30.

Somatic mtDNA mutations cause aging phenotypes without affecting reactive oxygen species production.

Trifunovic A, Hansson A, Wredenberg A, Rovio AT, Dufour E, Khvorostov I, Spelbrink JN, Wibom R, Jacobs HT, Larsson NG.

Proc Natl Acad Sci U S A. 2005 Dec 13;102(50):17993-8. Epub 2005 Dec 6.

31.

Premature ageing in mice expressing defective mitochondrial DNA polymerase.

Trifunovic A, Wredenberg A, Falkenberg M, Spelbrink JN, Rovio AT, Bruder CE, Bohlooly-Y M, Gidlöf S, Oldfors A, Wibom R, Törnell J, Jacobs HT, Larsson NG.

Nature. 2004 May 27;429(6990):417-23.

PMID:
15164064
32.

Increased mitochondrial mass in mitochondrial myopathy mice.

Wredenberg A, Wibom R, Wilhelmsson H, Graff C, Wiener HH, Burden SJ, Oldfors A, Westerblad H, Larsson NG.

Proc Natl Acad Sci U S A. 2002 Nov 12;99(23):15066-71. Epub 2002 Nov 4.

33.

Complex genetic counselling and prenatal analysis in a woman with external ophthalmoplegia and deleted mtDNA.

Graff C, Wredenberg A, Silva JP, Bui TH, Borg K, Larsson NG.

Prenat Diagn. 2000 May;20(5):426-31.

PMID:
10820414
34.

Effects of high resistance training in patients with myotonic dystrophy.

Tollbäck A, Eriksson S, Wredenberg A, Jenner G, Vargas R, Borg K, Ansved T.

Scand J Rehabil Med. 1999 Mar;31(1):9-16.

PMID:
10229998

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