MTO1 mediates tissue specificity of OXPHOS defects via tRNA modification and translation optimization, which can be bypassed by dietary intervention

Por Tischner, Christin, Hofer, Annette, Wulff, Veronika, Stepek, Joanna, Dumitru, Iulia, Becker, Lore, Haack, Tobias, Kremer, Laura, Datta, Alexandre N., Sperl, Wolfgang, Floss, Thomas, Wurst, Wolfgang, Chrzanowska-Lightowlers, Zofia, De Angelis, Martin Hrabe, Klopstock, Thomas, Prokisch, Holger, Wenz, Tina
Publicado no Hum Mol Genet (2015)

Deficient methylation and formylation of mt-tRNA(Met) wobble cytosine in a patient carrying mutations in NSUN3

Por Van Haute, Lindsey, Dietmann, Sabine, Kremer, Laura, Hussain, Shobbir, Pearce, Sarah F., Powell, Christopher A., Rorbach, Joanna, Lantaff, Rebecca, Blanco, Sandra, Sauer, Sascha, Kotzaeridou, Urania, Hoffmann, Georg F., Memari, Yasin, Kolb-Kokocinski, Anja, Durbin, Richard, Mayr, Johannes A., Frye, Michaela, Prokisch, Holger, Minczuk, Michal
Publicado no Nat Commun (2016)

Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy

Por Kremer, Laura S., Distelmaier, Felix, Alhaddad, Bader, Hempel, Maja, Iuso, Arcangela, Küpper, Clemens, Mühlhausen, Chris, Kovacs-Nagy, Reka, Satanovskij, Robin, Graf, Elisabeth, Berutti, Riccardo, Eckstein, Gertrud, Durbin, Richard, Sauer, Sascha, Hoffmann, Georg F., Strom, Tim M., Santer, René, Meitinger, Thomas, Klopstock, Thomas, Prokisch, Holger, Haack, Tobias B.
Publicado no Am J Hum Genet (2016)

NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood

Por Kremer, Laura S., Danhauser, Katharina, Herebian, Diran, Petkovic Ramadža, Danijela, Piekutowska-Abramczuk, Dorota, Seibt, Annette, Müller-Felber, Wolfgang, Haack, Tobias B., Płoski, Rafał, Lohmeier, Klaus, Schneider, Dominik, Klee, Dirk, Rokicki, Dariusz, Mayatepek, Ertan, Strom, Tim M., Meitinger, Thomas, Klopstock, Thomas, Pronicka, Ewa, Mayr, Johannes A., Baric, Ivo, Distelmaier, Felix, Prokisch, Holger
Publicado no Am J Hum Genet (2016)

TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies

Por Powell, Christopher A., Kopajtich, Robert, D’Souza, Aaron R., Rorbach, Joanna, Kremer, Laura S., Husain, Ralf A., Dallabona, Cristina, Donnini, Claudia, Alston, Charlotte L., Griffin, Helen, Pyle, Angela, Chinnery, Patrick F., Strom, Tim M., Meitinger, Thomas, Rodenburg, Richard J., Schottmann, Gudrun, Schuelke, Markus, Romain, Nadine, Haller, Ronald G., Ferrero, Ileana, Haack, Tobias B., Taylor, Robert W., Prokisch, Holger, Minczuk, Michal
Publicado no Am J Hum Genet (2015)

COQ4 Mutations Cause a Broad Spectrum of Mitochondrial Disorders Associated with CoQ(10) Deficiency

Por Brea-Calvo, Gloria, Haack, Tobias B., Karall, Daniela, Ohtake, Akira, Invernizzi, Federica, Carrozzo, Rosalba, Kremer, Laura, Dusi, Sabrina, Fauth, Christine, Scholl-Bürgi, Sabine, Graf, Elisabeth, Ahting, Uwe, Resta, Nicoletta, Laforgia, Nicola, Verrigni, Daniela, Okazaki, Yasushi, Kohda, Masakazu, Martinelli, Diego, Freisinger, Peter, Strom, Tim M., Meitinger, Thomas, Lamperti, Costanza, Lacson, Atilano, Navas, Placido, Mayr, Johannes A., Bertini, Enrico, Murayama, Kei, Zeviani, Massimo, Prokisch, Holger, Ghezzi, Daniele
Publicado no Am J Hum Genet (2015)

Mitochondrial protein interaction mapping identifies new regulators of respiratory chain function

Por Floyd, Brendan J., Wilkerson, Emily M., Veling, Mike T., Minogue, Catie E., Xia, Chuanwu, Beebe, Emily T., Wrobel, Russell L., Cho, Holly, Kremer, Laura S., Alston, Charlotte L., Gromek, Katarzyna A., Dolan, Brendan K., Ulbrich, Arne, Stefely, Jonathan A., Bohl, Sarah L., Werner, Kelly M., Jochem, Adam, Westphall, Michael S., Rensvold, Jarred W., Taylor, Robert W., Prokisch, Holger, Kim, Jung-Ja P., Coon, Joshua J., Pagliarini, David J.
Publicado no Mol Cell (2016)

Macrocytic Anemia and Mitochondriopathy Resulting from a Defect in Sideroflexin 4

Por Hildick-Smith, Gordon J., Cooney, Jeffrey D., Garone, Caterina, Kremer, Laura S., Haack, Tobias B., Thon, Jonathan N., Miyata, Non, Lieber, Daniel S., Calvo, Sarah E., Akman, H. Orhan, Yien, Yvette Y., Huston, Nicholas C., Branco, Diana S., Shah, Dhvanit I., Freedman, Matthew L., Koehler, Carla M., Italiano, Joseph E., Merkenschlager, Andreas, Beblo, Skadi, Strom, Tim M., Meitinger, Thomas, Freisinger, Peter, Donati, M. Alice, Prokisch, Holger, Mootha, Vamsi K., DiMauro, Salvatore, Paw, Barry H.
Publicado em 2013

Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy

Por Haack, Tobias B., Staufner, Christian, Köpke, Marlies G., Straub, Beate K., Kölker, Stefan, Thiel, Christian, Freisinger, Peter, Baric, Ivo, McKiernan, Patrick J., Dikow, Nicola, Harting, Inga, Beisse, Flemming, Burgard, Peter, Kotzaeridou, Urania, Kühr, Joachim, Himbert, Urban, Taylor, Robert W., Distelmaier, Felix, Vockley, Jerry, Ghaloul-Gonzalez, Lina, Zschocke, Johannes, Kremer, Laura S., Graf, Elisabeth, Schwarzmayr, Thomas, Bader, Daniel M., Gagneur, Julien, Wieland, Thomas, Terrile, Caterina, Strom, Tim M., Meitinger, Thomas, Hoffmann, Georg F., Prokisch, Holger
Publicado no Am J Hum Genet (2015)

Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy

Por Haack, Tobias B., Ignatius, Erika, Calvo-Garrido, Javier, Iuso, Arcangela, Isohanni, Pirjo, Maffezzini, Camilla, Lönnqvist, Tuula, Suomalainen, Anu, Gorza, Matteo, Kremer, Laura S., Graf, Elisabeth, Hartig, Monika, Berutti, Riccardo, Paucar, Martin, Svenningsson, Per, Stranneheim, Henrik, Brandberg, Göran, Wedell, Anna, Kurian, Manju A., Hayflick, Susan A., Venco, Paola, Tiranti, Valeria, Strom, Tim M., Dichgans, Martin, Horvath, Rita, Holinski-Feder, Elke, Freyer, Christoph, Meitinger, Thomas, Prokisch, Holger, Senderek, Jan, Wredenberg, Anna, Carroll, Christopher J., Klopstock, Thomas
Publicado no Am J Hum Genet (2016)

Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2

Por Kennedy, Hannah, Haack, Tobias B., Hartill, Verity, Mataković, Lavinija, Baumgartner, E. Regula, Potter, Howard, Mackay, Richard, Alston, Charlotte L., O’Sullivan, Siobhan, McFarland, Robert, Connolly, Grainne, Gannon, Caroline, King, Richard, Mead, Scott, Crozier, Ian, Chan, Wandy, Florkowski, Chris M., Sage, Martin, Höfken, Thomas, Alhaddad, Bader, Kremer, Laura S., Kopajtich, Robert, Feichtinger, René G., Sperl, Wolfgang, Rodenburg, Richard J., Minet, Jean Claude, Dobbie, Angus, Strom, Tim M., Meitinger, Thomas, George, Peter M., Johnson, Colin A., Taylor, Robert W., Prokisch, Holger, Doudney, Kit, Mayr, Johannes A.
Publicado no Am J Hum Genet (2016)

Mutations in FBXL4, Encoding a Mitochondrial Protein, Cause Early-Onset Mitochondrial Encephalomyopathy

Por Gai, Xiaowu, Ghezzi, Daniele, Johnson, Mark A., Biagosch, Caroline A., Shamseldin, Hanan E., Haack, Tobias B., Reyes, Aurelio, Tsukikawa, Mai, Sheldon, Claire A., Srinivasan, Satish, Gorza, Matteo, Kremer, Laura S., Wieland, Thomas, Strom, Tim M., Polyak, Erzsebet, Place, Emily, Consugar, Mark, Ostrovsky, Julian, Vidoni, Sara, Robinson, Alan J., Wong, Lee-Jun, Sondheimer, Neal, Salih, Mustafa A., Al-Jishi, Emtethal, Raab, Christopher P., Bean, Charles, Furlan, Francesca, Parini, Rossella, Lamperti, Costanza, Mayr, Johannes A., Konstantopoulou, Vassiliki, Huemer, Martina, Pierce, Eric A., Meitinger, Thomas, Freisinger, Peter, Sperl, Wolfgang, Prokisch, Holger, Alkuraya, Fowzan S., Falk, Marni J., Zeviani, Massimo
Publicado em 2013

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement

Por Haack, Tobias B, Jackson, Christopher B, Murayama, Kei, Kremer, Laura S, Schaller, André, Kotzaeridou, Urania, de Vries, Maaike C, Schottmann, Gudrun, Santra, Saikat, Büchner, Boriana, Wieland, Thomas, Graf, Elisabeth, Freisinger, Peter, Eggimann, Sandra, Ohtake, Akira, Okazaki, Yasushi, Kohda, Masakazu, Kishita, Yoshihito, Tokuzawa, Yoshimi, Sauer, Sascha, Memari, Yasin, Kolb-Kokocinski, Anja, Durbin, Richard, Hasselmann, Oswald, Cremer, Kirsten, Albrecht, Beate, Wieczorek, Dagmar, Engels, Hartmut, Hahn, Dagmar, Zink, Alexander M, Alston, Charlotte L, Taylor, Robert W, Rodenburg, Richard J, Trollmann, Regina, Sperl, Wolfgang, Strom, Tim M, Hoffmann, Georg F, Mayr, Johannes A, Meitinger, Thomas, Bolognini, Ramona, Schuelke, Markus, Nuoffer, Jean-Marc, Kölker, Stefan, Prokisch, Holger, Klopstock, Thomas
Publicado no Ann Clin Transl Neurol (2015)