MITOMAP References for Mutation TA-del at 9205

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1 24667782 2015 Seneca, S., Vancampenhout, K., Van Coster, R., Smet, J., Lissens, W., Vanlander, A., De Paepe, B., Jonckheere, A., Stouffs, K., De Meirleir, L. (2015) Analysis of the whole mitochondrial genome: translation of the Ion Torrent Personal Genome Machine system to the diagnostic bench? European Journal of Human Genetics . 23 (1): 41-48 .
2 12915481 2003 Temperley, R. J., Seneca, S. H., Tonska, K., Bartnik, E., Bindoff, L. A., Lightowlers, R. N., Chrzanowska-Lightowlers, Z. M. (2003) Investigation of a pathogenic mtDNA microdeletion reveals a translation-dependent deadenylation decay pathway in human mitochondria Human Molecular Genetics . 12 (18): 2341-2348 .
3 18221507 2008 Cizkova, A., Stranecky, V., Ivanek, R., Hartmannova, H., Noskova, L., Piherova, L., Tesarova, M., Hansikova, H., Honzik, T., Zeman, J., Divina, P., Potocka, A., Paul, J., Sperl, W., Mayr, J. A., Seneca, S., Houstek, J., Kmoch, S. (2008) Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated F1Fo ATP synthase deficiency BMC Genomics . 9 (-): 38 .
4 14585098 2004 Chrzanowska-Lightowlers, Z. M., Temperley, R. J., Smith, P. M., Seneca, S. H., Lightowlers, R. N. (2004) Functional polypeptides can be synthesized from human mitochondrial transcripts lacking termination codons Biochemical Journal . 377 (Pt 3): 725-731 .
5 16326995 2006 Bohm, M., Pronicka, E., Karczmarewicz, E., Pronicki, M., Piekutowska-Abramczuk, D., Sykut-Cegielska, J., Mierzewska, H., Hansikova, H., Vesela, K., Tesarova, M., Houstkova, H., Houstek, J., Zeman, J. (2006) Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency Pediatric Research . 59 (1): 21-26 .
6 8739943 1996 Seneca, S., Abramowicz, M., Lissens, W., Muller, M. F., Vamos, E., de Meirleir, L. (1996) A mitochondrial DNA microdeletion in a newborn girl with transient lactic acidosis Journal of Inherited Metabolic Disease . 19 (2): 115-118 .
7 15265003 2004 Jesina, P., Tesarova, M., Fornuskova, D., Vojtiskova, A., Pecina, P., Kaplanova, V., Hansikova, H., Zeman, J., Houstek, J. (2004) Diminished synthesis of subunit a (ATP6) and altered function of ATP synthase and cytochrome c oxidase due to the mtDNA 2 bp microdeletion of TA at positions 9205 and 9206 Biochemical Journal . 383 (Pt. 3): 561-571 .
8 30763462 2019 Ganetzky, R. D., Stendel, C., McCormick, E. M., Zolkipli-Cunningham, Z., Goldstein, A. C., Klopstock, T., Falk, M. J. (2019) MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases Human Mutation . 40 (5): 499-515 .
9 18620007 2009 Kucharczyk, R., Zick, M., Bietenhader, M., Rak, M., Couplan, E., Blondel, M., Caubet, S. D., di Rago, J. P. (2009) Mitochondrial ATP synthase disorders: molecular mechanisms and the quest for curative therapeutic approaches Biochimica et Biophysica Acta . 1793 (1): 186-199 .