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Page 1
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. Kishita Y, et al. Among authors: mourier a. Am J Hum Genet. 2015 Nov 5;97(5):761-8. doi: 10.1016/j.ajhg.2015.09.013. Epub 2015 Oct 29. Am J Hum Genet. 2015. PMID: 26522469 Free PMC article.
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. Wredenberg A, et al. Among authors: mourier a. PLoS Genet. 2013;9(1):e1003178. doi: 10.1371/journal.pgen.1003178. Epub 2013 Jan 3. PLoS Genet. 2013. PMID: 23300484 Free PMC article.
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. Terzioglu M, et al. Among authors: mourier a. Cell Metab. 2013 Apr 2;17(4):618-26. doi: 10.1016/j.cmet.2013.03.006. Cell Metab. 2013. PMID: 23562081 Free article.
Loss of LRPPRC causes ATP synthase deficiency.
Mourier A, Ruzzenente B, Brandt T, Kühlbrandt W, Larsson NG. Mourier A, et al. Hum Mol Genet. 2014 May 15;23(10):2580-92. doi: 10.1093/hmg/ddt652. Epub 2014 Jan 6. Hum Mol Genet. 2014. PMID: 24399447 Free PMC article.
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. Kukat A, et al. Among authors: mourier a. PLoS Genet. 2014 Jun 19;10(6):e1004385. doi: 10.1371/journal.pgen.1004385. eCollection 2014 Jun. PLoS Genet. 2014. PMID: 24945157 Free PMC article.
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. Freyer C, et al. Among authors: mourier a. J Med Genet. 2015 Nov;52(11):779-83. doi: 10.1136/jmedgenet-2015-102986. Epub 2015 Jun 17. J Med Genet. 2015. PMID: 26084283 Free PMC article.
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