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

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A comprehensive phenotypic characterization of a whole-body Wdr45 knock-out mouse by Biagosch, Caroline A., Vidali, Silvia, Faerberboeck, Michael, Hensler, Svenja-Viola, Becker, Lore, Amarie, Oana V., Aguilar-Pimentel, Antonio, Garrett, Lillian, Klein-Rodewald, Tanja, Rathkolb, Birgit, Zanuttigh, Enrica, Calzada-Wack, Julia, da Silva-Buttkus, Patricia, Rozman, Jan, Treise, Irina, Fuchs, Helmut, Gailus-Durner, Valerie, de Angelis, Martin Hrabě, Janik, Dirk, Wurst, Wolfgang, Mayr, Johannes A., Klopstock, Thomas, Meitinger, Thomas, Prokisch, Holger, Iuso, Arcangela

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Elevated glutaric acid levels in Dhtkd1-/Gcdh- double knockout mice challenge our current understanding of lysine metabolism by Biagosch, Caroline, Ediga, Raga Deepthi, Hensler, Svenja-Viola, Faerberboeck, Michael, Kuehn, Ralf, Wurst, Wolfgang, Meitinger, Thomas, Kölker, Stefan, Sauer, Sven, Prokisch, Holger

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Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations by Huemer, Martina, Karall, Daniela, Schossig, Anna, Abdenur, Jose E., Al Jasmi, Fatma, Biagosch, Caroline, Distelmaier, Felix, Freisinger, Peter, Graham, Brett H., Haack, Tobias B., Hauser, Natalie, Hertecant, Jozef, Ebrahimi-Fakhari, Darius, Konstantopoulou, Vassiliki, Leydiker, Karen, Lourenco, Charles M., Scholl-Bürgi, Sabine, Wilichowski, Ekkehard, Wolf, Nicole I., Wortmann, Saskia B., Taylor, Robert W., Mayr, Johannes A., Bonnen, Penelope E., Sperl, Wolfgang, Prokisch, Holger, McFarland, Robert

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FBXL4 is a mitochondria-localized protein in which autosomal recessive mutations cause multiple respiratory chain multisystem disease commonly involving cortical atrophy and leukod... by Gai, Xiaowu, Ghezzi, Daniele, Johnson, Mark A., Biagosch, Caroline, Shamseldin, Hanah, Tsukikawa, Mai, Sheldon, Claire, Srinivasan, Satish, Haack, Tobias, Gorza, Matteo, Wieland, Thomas, Strom, Tim, Polyak, Erzsebet, Place, Emily, Consugar, Mark, Ostrovsky, Julian, Vidoni, Sara, Reyes, Aurelio, Wong, Lee-Jun, Sondheimer, Neal, Salih, Mustafa, Al-Jishi, Emtethal, Freisinger, Peter, Furlan, Francesca, Lamperti, Costanza, Rodenburg, Richard, Pierce, Eric, Smeitink, Jan, Prokisch, Holger, Alkuraya, Fowzan, Zeviani, Massimo, Falk, Marni J.

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