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Page 1
COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency.
Brea-Calvo G, Haack TB, Karall D, Ohtake A, Invernizzi F, Carrozzo R, Kremer L, Dusi S, Fauth C, Scholl-Bürgi S, Graf E, Ahting U, Resta N, Laforgia N, Verrigni D, Okazaki Y, Kohda M, Martinelli D, Freisinger P, Strom TM, Meitinger T, Lamperti C, Lacson A, Navas P, Mayr JA, Bertini E, Murayama K, Zeviani M, Prokisch H, Ghezzi D. Brea-Calvo G, et al. Among authors: ahting u. Am J Hum Genet. 2015 Feb 5;96(2):309-17. doi: 10.1016/j.ajhg.2014.12.023. Am J Hum Genet. 2015. PMID: 25658047 Free PMC article.
MitoP2: the mitochondrial proteome database--now including mouse data.
Prokisch H, Andreoli C, Ahting U, Heiss K, Ruepp A, Scharfe C, Meitinger T. Prokisch H, et al. Among authors: ahting u. Nucleic Acids Res. 2006 Jan 1;34(Database issue):D705-11. doi: 10.1093/nar/gkj127. Nucleic Acids Res. 2006. PMID: 16381964 Free PMC article.
Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9.
Haack TB, Madignier F, Herzer M, Lamantea E, Danhauser K, Invernizzi F, Koch J, Freitag M, Drost R, Hillier I, Haberberger B, Mayr JA, Ahting U, Tiranti V, Rötig A, Iuso A, Horvath R, Tesarova M, Baric I, Uziel G, Rolinski B, Sperl W, Meitinger T, Zeviani M, Freisinger P, Prokisch H. Haack TB, et al. Among authors: ahting u. J Med Genet. 2012 Feb;49(2):83-9. doi: 10.1136/jmedgenet-2011-100577. Epub 2011 Dec 26. J Med Genet. 2012. PMID: 22200994
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing.
Haack TB, Haberberger B, Frisch EM, Wieland T, Iuso A, Gorza M, Strecker V, Graf E, Mayr JA, Herberg U, Hennermann JB, Klopstock T, Kuhn KA, Ahting U, Sperl W, Wilichowski E, Hoffmann GF, Tesarova M, Hansikova H, Zeman J, Plecko B, Zeviani M, Wittig I, Strom TM, Schuelke M, Freisinger P, Meitinger T, Prokisch H. Haack TB, et al. Among authors: ahting u. J Med Genet. 2012 Apr;49(4):277-83. doi: 10.1136/jmedgenet-2012-100846. J Med Genet. 2012. PMID: 22499348
Reconstituted TOM core complex and Tim9/Tim10 complex of mitochondria are sufficient for translocation of the ADP/ATP carrier across membranes.
Vasiljev A, Ahting U, Nargang FE, Go NE, Habib SJ, Kozany C, Panneels V, Sinning I, Prokisch H, Neupert W, Nussberger S, Rapaport D. Vasiljev A, et al. Among authors: ahting u. Mol Biol Cell. 2004 Mar;15(3):1445-58. doi: 10.1091/mbc.e03-05-0272. Epub 2003 Dec 10. Mol Biol Cell. 2004. PMID: 14668492 Free PMC article.
Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening.
Haack TB, Gorza M, Danhauser K, Mayr JA, Haberberger B, Wieland T, Kremer L, Strecker V, Graf E, Memari Y, Ahting U, Kopajtich R, Wortmann SB, Rodenburg RJ, Kotzaeridou U, Hoffmann GF, Sperl W, Wittig I, Wilichowski E, Schottmann G, Schuelke M, Plecko B, Stephani U, Strom TM, Meitinger T, Prokisch H, Freisinger P. Haack TB, et al. Among authors: ahting u. Mol Genet Metab. 2014 Mar;111(3):342-352. doi: 10.1016/j.ymgme.2013.12.010. Epub 2013 Dec 25. Mol Genet Metab. 2014. PMID: 24461907
Neurological phenotype and reduced lifespan in heterozygous Tim23 knockout mice, the first mouse model of defective mitochondrial import.
Ahting U, Floss T, Uez N, Schneider-Lohmar I, Becker L, Kling E, Iuso A, Bender A, de Angelis MH, Gailus-Durner V, Fuchs H, Meitinger T, Wurst W, Prokisch H, Klopstock T. Ahting U, et al. Biochim Biophys Acta. 2009 May;1787(5):371-6. doi: 10.1016/j.bbabio.2008.12.001. Epub 2008 Dec 9. Biochim Biophys Acta. 2009. PMID: 19111522 Free article.
45 results