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Items: 1 to 50 of 77

1.

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.

2.

TEFM regulates both transcription elongation and RNA processing in mitochondria.

Jiang S, Koolmeister C, Misic J, Siira S, Kühl I, Silva Ramos E, Miranda M, Jiang M, Posse V, Lytovchenko O, Atanassov I, Schober FA, Wibom R, Hultenby K, Milenkovic D, Gustafsson CM, Filipovska A, Larsson NG.

EMBO Rep. 2019 Jun;20(6). pii: e48101. doi: 10.15252/embr.201948101. Epub 2019 Apr 29.

3.

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.

4.

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.

5.

DARS2 protects against neuroinflammation and apoptotic neuronal loss, but is dispensable for myelin producing cells.

Aradjanski M, Dogan SA, Lotter S, Wang S, Hermans S, Wibom R, Rugarli E, Trifunovic A.

Hum Mol Genet. 2017 Nov 1;26(21):4181-4189. doi: 10.1093/hmg/ddx307.

PMID:
28985337
6.

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.

7.

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.

8.

Reduced metabolism in the hypothalamus of the anorectic anx/anx mouse.

Bergström U, Lindfors C, Svedberg M, Johansen JE, Häggkvist J, Schalling M, Wibom R, Katz A, Nilsson IA.

J Endocrinol. 2017 Apr;233(1):15-24. doi: 10.1530/JOE-16-0383. Epub 2017 Jan 27.

PMID:
28130409
9.

CLPP coordinates mitoribosomal assembly through the regulation of ERAL1 levels.

Szczepanowska K, Maiti P, Kukat A, Hofsetz E, Nolte H, Senft K, Becker C, Ruzzenente B, Hornig-Do HT, Wibom R, Wiesner RJ, Krüger M, Trifunovic A.

EMBO J. 2016 Dec 1;35(23):2566-2583. Epub 2016 Oct 20.

10.

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.

11.

Biotin and Thiamine Responsive Basal Ganglia Disease--A vital differential diagnosis in infants with severe encephalopathy.

Ygberg S, Naess K, Eriksson M, Stranneheim H, Lesko N, Barbaro M, Wibom R, Wang C, Wedell A, Wickström R.

Eur J Paediatr Neurol. 2016 May;20(3):457-61. doi: 10.1016/j.ejpn.2016.01.009. Epub 2016 Feb 4.

PMID:
26975589
12.

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.

13.

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.

14.

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.

15.

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.

16.

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.

17.

Loss of UCP2 attenuates mitochondrial dysfunction without altering ROS production and uncoupling activity.

Kukat A, Dogan SA, Edgar D, Mourier A, Jacoby C, Maiti P, Mauer J, Becker C, Senft K, Wibom R, Kudin AP, Hultenby K, Flögel U, Rosenkranz S, Ricquier D, Kunz WS, Trifunovic A.

PLoS Genet. 2014 Jun 19;10(6):e1004385. doi: 10.1371/journal.pgen.1004385. eCollection 2014 Jun.

18.

Tissue-specific loss of DARS2 activates stress responses independently of respiratory chain deficiency in the heart.

Dogan SA, Pujol C, Maiti P, Kukat A, Wang S, Hermans S, Senft K, Wibom R, Rugarli EI, Trifunovic A.

Cell Metab. 2014 Mar 4;19(3):458-69. doi: 10.1016/j.cmet.2014.02.004.

19.

Partial tetrasomy 14 associated with multiple malformations.

Winberg J, Lagerstedt Robinson K, Naess K, Lesko N, Wibom R, Liedén A, Anderlid BM, Graff C, Nordenskjöld A, Nordgren A, Gustavsson P.

Am J Med Genet A. 2013 Jun;161A(6):1284-90. doi: 10.1002/ajmg.a.35887. Epub 2013 Apr 23.

PMID:
23613323
20.

MTERF1 binds mtDNA to prevent transcriptional interference at the light-strand promoter but is dispensable for rRNA gene transcription regulation.

Terzioglu M, Ruzzenente B, Harmel J, Mourier A, Jemt E, López MD, Kukat C, Stewart JB, Wibom R, Meharg C, Habermann B, Falkenberg M, Gustafsson CM, Park CB, Larsson NG.

Cell Metab. 2013 Apr 2;17(4):618-26. doi: 10.1016/j.cmet.2013.03.006.

21.

Complete Deletion of a POLG1 Allele in a Patient with Alpers Syndrome.

Naess K, Barbaro M, Bruhn H, Wibom R, Nennesmo I, von Döbeln U, Larsson NG, Nemeth A, Lesko N.

JIMD Rep. 2012;4:67-73. doi: 10.1007/8904_2011_73. Epub 2011 Oct 20.

22.

Differences in acute metabolism of fructose between hemodialysis patients and healthy subjects.

Anderstam B, Bragfors-Helin AC, Axelsson J, Qureshi AR, Wibom R, Lindholm B, Stenvinkel P.

Scand J Clin Lab Invest. 2013 Mar;73(2):154-60. doi: 10.3109/00365513.2012.758386. Epub 2013 Jan 22.

PMID:
23336588
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.

Mutations in the mitochondrial tRNA Ser(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy.

Tuppen HA, Naess K, Kennaway NG, Al-Dosary M, Lesko N, Yarham JW, Bruhn H, Wibom R, Nennesmo I, Weleber RG, Blakely EL, Taylor RW, McFarland R.

Eur J Hum Genet. 2012 Aug;20(8):897-904. doi: 10.1038/ejhg.2012.44. Epub 2012 Feb 29. Erratum in: Eur J Hum Genet. 2012 Aug;20(8):910.

25.

Altered dopamine metabolism and increased vulnerability to MPTP in mice with partial deficiency of mitochondrial complex I in dopamine neurons.

Sterky FH, Hoffman AF, Milenkovic D, Bao B, Paganelli A, Edgar D, Wibom R, Lupica CR, Olson L, Larsson NG.

Hum Mol Genet. 2012 Mar 1;21(5):1078-89. doi: 10.1093/hmg/ddr537. Epub 2011 Nov 16.

26.

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.

27.

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.

28.

Impaired mitochondrial transport and Parkin-independent degeneration of respiratory chain-deficient dopamine neurons in vivo.

Sterky FH, Lee S, Wibom R, Olson L, Larsson NG.

Proc Natl Acad Sci U S A. 2011 Aug 2;108(31):12937-42. doi: 10.1073/pnas.1103295108. Epub 2011 Jul 18.

29.

MTERF4 regulates translation by targeting the methyltransferase NSUN4 to the mammalian mitochondrial ribosome.

Cámara Y, Asin-Cayuela J, Park CB, Metodiev MD, Shi Y, Ruzzenente B, Kukat C, Habermann B, Wibom R, Hultenby K, Franz T, Erdjument-Bromage H, Tempst P, Hallberg BM, Gustafsson CM, Larsson NG.

Cell Metab. 2011 May 4;13(5):527-39. doi: 10.1016/j.cmet.2011.04.002.

30.

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 NG.

Nucleic Acids Res. 2010 Oct;38(19):6577-88. doi: 10.1093/nar/gkq527. Epub 2010 Jun 20.

31.

Two novel mutations in thymidine kinase-2 cause early onset fatal encephalomyopathy and severe mtDNA depletion.

Lesko N, Naess K, Wibom R, Solaroli N, Nennesmo I, von Döbeln U, Karlsson A, Larsson NG.

Neuromuscul Disord. 2010 Mar;20(3):198-203. doi: 10.1016/j.nmd.2009.11.013. Epub 2010 Jan 18.

PMID:
20083405
32.

Tight coupling between glucose and mitochondrial metabolism in clonal beta-cells is required for robust insulin secretion.

Malmgren S, Nicholls DG, Taneera J, Bacos K, Koeck T, Tamaddon A, Wibom R, Groop L, Ling C, Mulder H, Sharoyko VV.

J Biol Chem. 2009 Nov 20;284(47):32395-404. doi: 10.1074/jbc.M109.026708. Epub 2009 Sep 21.

33.

AGC1 deficiency associated with global cerebral hypomyelination.

Wibom R, Lasorsa FM, Töhönen V, Barbaro M, Sterky FH, Kucinski T, Naess K, Jonsson M, Pierri CL, Palmieri F, Wedell A.

N Engl J Med. 2009 Jul 30;361(5):489-95. doi: 10.1056/NEJMoa0900591. Erratum in: N Engl J Med. 2009 Aug 13;361(7):731.

34.

Sensory ataxic neuropathy in golden retriever dogs is caused by a deletion in the mitochondrial tRNATyr gene.

Baranowska I, Jäderlund KH, Nennesmo I, Holmqvist E, Heidrich N, Larsson NG, Andersson G, Wagner EG, Hedhammar A, Wibom R, Andersson L.

PLoS Genet. 2009 May;5(5):e1000499. doi: 10.1371/journal.pgen.1000499. Epub 2009 May 29.

35.

Baculovirus complementation restores a novel NDUFAF2 mutation causing complex I deficiency.

Hoefs SJ, Dieteren CE, Rodenburg RJ, Naess K, Bruhn H, Wibom R, Wagena E, Willems PH, Smeitink JA, Nijtmans LG, van den Heuvel LP.

Hum Mutat. 2009 Jul;30(7):E728-36. doi: 10.1002/humu.21037.

PMID:
19384974
36.

Methylation of 12S rRNA is necessary for in vivo stability of the small subunit of the mammalian mitochondrial ribosome.

Metodiev MD, Lesko N, Park CB, Cámara Y, Shi Y, Wibom R, Hultenby K, Gustafsson CM, Larsson NG.

Cell Metab. 2009 Apr;9(4):386-97. doi: 10.1016/j.cmet.2009.03.001.

37.

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 Döbeln U, Larsson NG.

Biochim Biophys Acta. 2009 May;1787(5):484-90. doi: 10.1016/j.bbabio.2008.11.014. Epub 2008 Dec 6.

38.

MTERF3 is a negative regulator of mammalian mtDNA transcription.

Park CB, Asin-Cayuela J, Cámara Y, Shi Y, Pellegrini M, Gaspari M, Wibom R, Hultenby K, Erdjument-Bromage H, Tempst P, Falkenberg M, Gustafsson CM, Larsson NG.

Cell. 2007 Jul 27;130(2):273-85.

39.

Effects of palmitate on Ca(2+) handling in adult control and ob/ob cardiomyocytes: impact of mitochondrial reactive oxygen species.

Fauconnier J, Andersson DC, Zhang SJ, Lanner JT, Wibom R, Katz A, Bruton JD, Westerblad H.

Diabetes. 2007 Apr;56(4):1136-42. Epub 2007 Jan 17.

40.

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
41.

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.

42.

SOD2 overexpression: enhanced mitochondrial tolerance but absence of effect on UCP activity.

Silva JP, Shabalina IG, Dufour E, Petrovic N, Backlund EC, Hultenby K, Wibom R, Nedergaard J, Cannon B, Larsson NG.

EMBO J. 2005 Dec 7;24(23):4061-70. Epub 2005 Nov 10.

43.

The structural and functional role of Med5 in the yeast Mediator tail module.

Béve J, Hu GZ, Myers LC, Balciunas D, Werngren O, Hultenby K, Wibom R, Ronne H, Gustafsson CM.

J Biol Chem. 2005 Dec 16;280(50):41366-72. Epub 2005 Oct 17.

44.

Secondary metabolic effects in complex I deficiency.

Esteitie N, Hinttala R, Wibom R, Nilsson H, Hance N, Naess K, Teär-Fahnehjelm K, von Döbeln U, Majamaa K, Larsson NG.

Ann Neurol. 2005 Oct;58(4):544-52.

PMID:
16044424
45.

Aberrant mitochondrial iron distribution and maturation arrest characterize early erythroid precursors in low-risk myelodysplastic syndromes.

Tehranchi R, Invernizzi R, Grandien A, Zhivotovsky B, Fadeel B, Forsblom AM, Travaglino E, Samuelsson J, Hast R, Nilsson L, Cazzola M, Wibom R, Hellström-Lindberg E.

Blood. 2005 Jul 1;106(1):247-53. Epub 2005 Mar 8.

PMID:
15755901
46.

Marked reutilization of free fatty acids during activated lipolysis in human skeletal muscle.

Enoksson S, Hagström-Toft E, Nordahl J, Hultenby K, Pettersson N, Isaksson B, Permert J, Wibom R, Holm C, Bolinder J, Arner P.

J Clin Endocrinol Metab. 2005 Feb;90(2):1189-95. Epub 2004 Nov 23.

PMID:
15562022
47.

Effect on truck drivers' alertness of a 30-min. exposure to bright light: a field study.

Landström U, Akerstedt T, Byström M, Nordström B, Wibom R.

Percept Mot Skills. 2004 Jun;98(3 Pt 1):770-6.

PMID:
15209289
48.

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
49.

Suppression of sleepiness and melatonin by bright light exposure during breaks in night work.

Lowden A, Akerstedt T, Wibom R.

J Sleep Res. 2004 Mar;13(1):37-43.

50.

A switch in metabolism precedes increased mitochondrial biogenesis in respiratory chain-deficient mouse hearts.

Hansson A, Hance N, Dufour E, Rantanen A, Hultenby K, Clayton DA, Wibom R, Larsson NG.

Proc Natl Acad Sci U S A. 2004 Mar 2;101(9):3136-41. Epub 2004 Feb 20.

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