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A common variant in TFB1M is associated with reduced insulin secretion and increased future risk of type 2 diabetes.
Koeck T, Olsson AH, Nitert MD, Sharoyko VV, Ladenvall C, Kotova O, Reiling E, Rönn T, Parikh H, Taneera J, Eriksson JG, Metodiev MD, Larsson NG, Balhuizen A, Luthman H, Stančáková A, Kuusisto J, Laakso M, Poulsen P, Vaag A, Groop L, Lyssenko V, Mulder H, Ling C. Koeck T, et al. Among authors: metodiev md. Cell Metab. 2011 Jan 5;13(1):80-91. doi: 10.1016/j.cmet.2010.12.007. Cell Metab. 2011. PMID: 21195351 Free 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: metodiev md. PLoS Genet. 2013;9(1):e1003178. doi: 10.1371/journal.pgen.1003178. Epub 2013 Jan 3. PLoS Genet. 2013. PMID: 23300484 Free PMC article.
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. Ruzzenente B, et al. Among authors: metodiev md. EMBO J. 2012 Jan 18;31(2):443-56. doi: 10.1038/emboj.2011.392. Epub 2011 Nov 1. EMBO J. 2012. PMID: 22045337 Free PMC article.
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. Cámara Y, et al. Among authors: metodiev md. Cell Metab. 2011 May 4;13(5):527-39. doi: 10.1016/j.cmet.2011.04.002. Cell Metab. 2011. PMID: 21531335 Free article.
Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy.
Kopajtich R, Nicholls TJ, Rorbach J, Metodiev MD, Freisinger P, Mandel H, Vanlander A, Ghezzi D, Carrozzo R, Taylor RW, Marquard K, Murayama K, Wieland T, Schwarzmayr T, Mayr JA, Pearce SF, Powell CA, Saada A, Ohtake A, Invernizzi F, Lamantea E, Sommerville EW, Pyle A, Chinnery PF, Crushell E, Okazaki Y, Kohda M, Kishita Y, Tokuzawa Y, Assouline Z, Rio M, Feillet F, Mousson de Camaret B, Chretien D, Munnich A, Menten B, Sante T, Smet J, Régal L, Lorber A, Khoury A, Zeviani M, Strom TM, Meitinger T, Bertini ES, Van Coster R, Klopstock T, Rötig A, Haack TB, Minczuk M, Prokisch H. Kopajtich R, et al. Among authors: metodiev md. Am J Hum Genet. 2014 Dec 4;95(6):708-20. doi: 10.1016/j.ajhg.2014.10.017. Epub 2014 Nov 26. Am J Hum Genet. 2014. PMID: 25434004 Free PMC article.
Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.
Lake NJ, Webb BD, Stroud DA, Richman TR, Ruzzenente B, Compton AG, Mountford HS, Pulman J, Zangarelli C, Rio M, Boddaert N, Assouline Z, Sherpa MD, Schadt EE, Houten SM, Byrnes J, McCormick EM, Zolkipli-Cunningham Z, Haude K, Zhang Z, Retterer K, Bai R, Calvo SE, Mootha VK, Christodoulou J, Rötig A, Filipovska A, Cristian I, Falk MJ, Metodiev MD, Thorburn DR. Lake NJ, et al. Among authors: metodiev md. Am J Hum Genet. 2017 Aug 3;101(2):239-254. doi: 10.1016/j.ajhg.2017.07.005. Am J Hum Genet. 2017. PMID: 28777931 Free PMC article.
31 results