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Page 1
Acute infantile liver failure due to mutations in the TRMU gene.
Zeharia A, Shaag A, Pappo O, Mager-Heckel AM, Saada A, Beinat M, Karicheva O, Mandel H, Ofek N, Segel R, Marom D, Rötig A, Tarassov I, Elpeleg O. Zeharia A, et al. Among authors: tarassov i. Am J Hum Genet. 2009 Sep;85(3):401-7. doi: 10.1016/j.ajhg.2009.08.004. Am J Hum Genet. 2009. PMID: 19732863 Free PMC article.
Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency.
Vedrenne V, Gowher A, De Lonlay P, Nitschke P, Serre V, Boddaert N, Altuzarra C, Mager-Heckel AM, Chretien F, Entelis N, Munnich A, Tarassov I, Rötig A. Vedrenne V, et al. Among authors: tarassov i. Am J Hum Genet. 2012 Nov 2;91(5):912-8. doi: 10.1016/j.ajhg.2012.09.001. Epub 2012 Oct 18. Am J Hum Genet. 2012. PMID: 23084291 Free PMC article.
Correction of the consequences of mitochondrial 3243A>G mutation in the MT-TL1 gene causing the MELAS syndrome by tRNA import into mitochondria.
Karicheva OZ, Kolesnikova OA, Schirtz T, Vysokikh MY, Mager-Heckel AM, Lombès A, Boucheham A, Krasheninnikov IA, Martin RP, Entelis N, Tarassov I. Karicheva OZ, et al. Among authors: tarassov i. Nucleic Acids Res. 2011 Oct;39(18):8173-86. doi: 10.1093/nar/gkr546. Epub 2011 Jun 30. Nucleic Acids Res. 2011. PMID: 21724600 Free PMC article.
The analysis of tRNA import into mammalian mitochondria.
Mager-Heckel AM, Entelis N, Brandina I, Kamenski P, Krasheninnikov IA, Martin RP, Tarassov I. Mager-Heckel AM, et al. Among authors: tarassov i. Methods Mol Biol. 2007;372:235-53. doi: 10.1007/978-1-59745-365-3_17. Methods Mol Biol. 2007. PMID: 18314730
61 results