Publications

Publications 2013 - 2018 (pdf.file)

Recent publications 2018 (update: October 2018)

Zimmermann, F.A., Neureiter, D., Sperl, W., Mayr, J.A., and Kofler, B. (2018). Alterations of Oxidative Phosphorylation Complexes in Papillary Thyroid Carcinoma. Cells 7.

Yepez, V.A., Kremer, L.S., Iuso, A., Gusic, M., Kopajtich, R., Konarikova, E., Nadel, A., Wachutka, L., Prokisch, H., and Gagneur, J. (2018). OCR-Stats: Robust estimation and statistical testing of mitochondrial respiration activities using Seahorse XF Analyzer. PLoS One 13, e0199938.


Xu, Z., Lo, W.S., Beck, D.B., Schuch, L.A., Olahova, M., Kopajtich, R., Chong, Y.E., Alston, C.L., Seidl, E., Zhai, L., Lau, C.F., Timchak, D., LeDuc, C.A., Borczuk, A.C., Teich, A.F., Juusola, J., Sofeso, C., Muller, C., Pierre, G., Hilliard, T., Turnpenny, P.D., Wagner, M., Kappler, M., Brasch, F., Bouffard, J.P., Nangle, L.A., Yang, X.L., Zhang, M., Taylor, R.W., Prokisch, H., Griese, M., Chung, W.K., and Schimmel, P. (2018). Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function. Am J Hum Genet 103, 100-114.

Waich, S., Roscher, A., Brunner-Krainz, M., Cortina, G., Kostl, G., Feichtinger, R.G., Entenmann, A., Muller, T., Knisely, A.S., Mayr, J.A., Janecke, A.R., and Vodopiutz, J. (2018). Severe DGUOK Deficiency in Austria: A Six-Patient Series. J Pediatr Gastroenterol Nutr.

van Karnebeek, C.D.M., Wortmann, S.B., Tarailo-Graovac, M., Langeveld, M., Ferreira, C.R., van de Kamp, J.M., Hollak, C.E., Wasserman, W.W., Waterham, H.R., Wevers, R.A., Haack, T.B., Wanders, R.J.A., and Boycott, K.M. (2018). The role of the clinician in the multi-omics era: are you ready? J Inherit Metab Dis 41, 571-582.

Stenton, S.L., and Prokisch, H. (2018). Advancing genomic approaches to the molecular diagnosis of mitochondrial disease. Essays Biochem 62, 399-408.

Roeben, B., Schule, R., Ruf, S., Bender, B., Alhaddad, B., Benkert, T., Meitinger, T., Reich, S., Bohringer, J., Langhans, C.D., Vaz, F.M., Wortmann, S.B., Marquardt, T., Haack, T.B., Krageloh-Mann, I., Schols, L., and Synofzik, M. (2018). SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family. J Med Genet 55, 39-47.

Repp, B.M., Mastantuono, E., Alston, C.L., Schiff, M., Haack, T.B., Rotig, A., Ardissone, A., Lombes, A., Catarino, C.B., Diodato, D., Schottmann, G., Poulton, J., Burlina, A., Jonckheere, A., Munnich, A., Rolinski, B., Ghezzi, D., Rokicki, D., Wellesley, D., Martinelli, D., Wenhong, D., Lamantea, E., Ostergaard, E., Pronicka, E., Pierre, G., Smeets, H.J.M., Wittig, I., Scurr, I., de Coo, I.F.M., Moroni, I., Smet, J., Mayr, J.A., Dai, L., de Meirleir, L., Schuelke, M., Zeviani, M., Morscher, R.J., McFarland, R., Seneca, S., Klopstock, T., Meitinger, T., Wieland, T., Strom, T.M., Herberg, U., Ahting, U., Sperl, W., Nassogne, M.C., Ling, H., Fang, F., Freisinger, P., Van Coster, R., Strecker, V., Taylor, R.W., Haberle, J., Vockley, J., Prokisch, H., and Wortmann, S. (2018). Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective? Orphanet J Rare Dis 13, 120.

Piekutowska-Abramczuk, D., Assouline, Z., Matakovic, L., Feichtinger, R.G., Konarikova, E., Jurkiewicz, E., Stawinski, P., Gusic, M., Koller, A., Pollak, A., Gasperowicz, P., Trubicka, J., Ciara, E., Iwanicka-Pronicka, K., Rokicki, D., Hanein, S., Wortmann, S.B., Sperl, W., Rotig, A., Prokisch, H., Pronicka, E., Ploski, R., Barcia, G., and Mayr, J.A. (2018). NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy. Am J Hum Genet 102, 460-467.

Olahova, M., Yoon, W.H., Thompson, K., Jangam, S., Fernandez, L., Davidson, J.M., Kyle, J.E., Grove, M.E., Fisk, D.G., Kohler, J.N., Holmes, M., Dries, A.M., Huang, Y., Zhao, C., Contrepois, K., Zappala, Z., Fresard, L., Waggott, D., Zink, E.M., Kim, Y.M., Heyman, H.M., Stratton, K.G., Webb-Robertson, B.M., Undiagnosed Diseases, N., Snyder, M., Merker, J.D., Montgomery, S.B., Fisher, P.G., Feichtinger, R.G., Mayr, J.A., Hall, J., Barbosa, I.A., Simpson, M.A., Deshpande, C., Waters, K.M., Koeller, D.M., Metz, T.O., Morris, A.A., Schelley, S., Cowan, T., Friederich, M.W., McFarland, R., Van Hove, J.L.K., Enns, G.M., Yamamoto, S., Ashley, E.A., Wangler, M.F., Taylor, R.W., Bellen, H.J., Bernstein, J.A., and Wheeler, M.T. (2018). Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. Am J Hum Genet 102, 494-504.

Oemer, G., Lackner, K., Muigg, K., Krumschnabel, G., Watschinger, K., Sailer, S., Lindner, H., Gnaiger, E., Wortmann, S.B., Werner, E.R., Zschocke, J., and Keller, M.A. (2018). Molecular structural diversity of mitochondrial cardiolipins. Proc Natl Acad Sci U S A 115, 4158-4163.

O'Byrne, J.J., Tarailo-Graovac, M., Ghani, A., Champion, M., Deshpande, C., Dursun, A., Ozgul, R.K., Freisinger, P., Garber, I., Haack, T.B., Horvath, R., Baric, I., Husain, R.A., Kluijtmans, L.A.J., Kotzaeridou, U., Morris, A.A., Ross, C.J., Santra, S., Smeitink, J., Tarnopolsky, M., Wortmann, S.B., Mayr, J.A., Brunner-Krainz, M., Prokisch, H., Wasserman, W.W., Wevers, R.A., Engelke, U.F., Rodenburg, R.J., Ting, T.W., McFarland, R., Taylor, R.W., Salvarinova, R., and van Karnebeek, C.D.M. (2018). The genotypic and phenotypic spectrum of MTO1 deficiency. Mol Genet Metab 123, 28-42.

Niedermayr, K., Polzl, G., Scholl-Burgi, S., Fauth, C., Schweigmann, U., Haberlandt, E., Albrecht, U., Zlamy, M., Sperl, W., Mayr, J.A., and Karall, D. (2018). Mitochondrial DNA mutation "m.3243A>G"-Heterogeneous clinical picture for cardiologists ("m.3243A>G": A phenotypic chameleon). Congenit Heart Dis.

Morscher, R.J., Ducker, G.S., Li, S.H., Mayer, J.A., Gitai, Z., Sperl, W., and Rabinowitz, J.D. (2018). Mitochondrial translation requires folate-dependent tRNA methylation. Nature 554, 128-132.

Milev, M.P., Graziano, C., Karall, D., Kuper, W.F.E., Al-Deri, N., Cordelli, D.M., Haack, T.B., Danhauser, K., Iuso, A., Palombo, F., Pippucci, T., Prokisch, H., Saint-Dic, D., Seri, M., Stanga, D., Cenacchi, G., van Gassen, K.L.I., Zschocke, J., Fauth, C., Mayr, J.A., Sacher, M., and van Hasselt, P.M. (2018). Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts. J Med Genet.

Lotz-Havla, A.S., Roschinger, W., Schiergens, K., Singer, K., Karall, D., Konstantopoulou, V., Wortmann, S.B., and Maier, E.M. (2018). Fatal pitfalls in newborn screening for mitochondrial trifunctional protein (MTP)/long-chain 3-Hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency. Orphanet J Rare Dis 13, 122.

Kremer, L.S., Wortmann, S.B., and Prokisch, H. (2018). "Transcriptomics": molecular diagnosis of inborn errors of metabolism via RNA-sequencing. J Inherit Metab Dis 41, 525-532.

Kovacs-Nagy, R., Morin, G., Nouri, M.A., Brandau, O., Saadi, N.W., Nouri, M.A., van den Broek, F., Prokisch, H., Mayr, J.A., and Wortmann, S.B. (2018). HTRA2 Defect: A Recognizable Inborn Error of Metabolism with 3-Methylglutaconic Aciduria as Discriminating Feature Characterized by Neonatal Movement Disorder and Epilepsy-Report of 11 Patients. Neuropediatrics.

Iuso, A., Wiersma, M., Schuller, H.J., Pode-Shakked, B., Marek-Yagel, D., Grigat, M., Schwarzmayr, T., Berutti, R., Alhaddad, B., Kanon, B., Grzeschik, N.A., Okun, J.G., Perles, Z., Salem, Y., Barel, O., Vardi, A., Rubinshtein, M., Tirosh, T., Dubnov-Raz, G., Messias, A.C., Terrile, C., Barshack, I., Volkov, A., Avivi, C., Eyal, E., Mastantuono, E., Kumbar, M., Abudi, S., Braunisch, M., Strom, T.M., Meitinger, T., Hoffmann, G.F., Prokisch, H., Haack, T.B., Brundel, B., Haas, D., Sibon, O.C.M., and Anikster, Y. (2018). Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy. Am J Hum Genet 102, 1018-1030.

Iuso, A., Alhaddad, B., Weigel, C., Kotzaeridou, U., Mastantuono, E., Schwarzmayr, T., Graf, E., Terrile, C., Prokisch, H., Strom, T.M., Hoffmann, G.F., Meitinger, T., and Haack, T.B. (2018). A Homozygous Splice Site Mutation in SLC25A42, Encoding the Mitochondrial Transporter of Coenzyme A, Causes Metabolic Crises and Epileptic Encephalopathy. JIMD Rep.

Gauthier, J., Meijer, I.A., Lessel, D., Mencacci, N.E., Krainc, D., Hempel, M., Tsiakas, K., Prokisch, H., Rossignol, E., Helm, M.H., Rodan, L.H., Karamchandani, J., Carecchio, M., Lubbe, S.J., Telegrafi, A., Henderson, L.B., Lorenzo, K., Wallace, S.E., Glass, I.A., Hamdan, F.F., Michaud, J.L., Rouleau, G.A., and Campeau, P.M. (2018). Recessive mutations in >VPS13D cause childhood onset movement disorders. Ann Neurol 83, 1089-1095.

Gardeitchik, T., Mohamed, M., Ruzzenente, B., Karall, D., Guerrero-Castillo, S., Dalloyaux, D., van den Brand, M., van Kraaij, S., van Asbeck, E., Assouline, Z., Rio, M., de Lonlay, P., Scholl-Buergi, S., Wolthuis, D., Hoischen, A., Rodenburg, R.J., Sperl, W., Urban, Z., Brandt, U., Mayr, J.A., Wong, S., de Brouwer, A.P.M., Nijtmans, L., Munnich, A., Rotig, A., Wevers, R.A., Metodiev, M.D., and Morava, E. (2018). Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies. Am J Hum Genet 102, 685-695.

Feichtinger, R.G., Lang, R., Geilberger, R., Rathje, F., Mayr, J.A., Sperl, W., Bauer, J.W., Hauser-Kronberger, C., Kofler, B., and Emberger, M. (2018). Melanoma tumors exhibit a variable but distinct metabolic signature. Exp Dermatol 27, 204-207.

Coene, K.L.M., Kluijtmans, L.A.J., van der Heeft, E., Engelke, U.F.H., de Boer, S., Hoegen, B., Kwast, H.J.T., van de Vorst, M., Huigen, M., Keularts, I., Schreuder, M.F., van Karnebeek, C.D.M., Wortmann, S.B., de Vries, M.C., Janssen, M.C.H., Gilissen, C., Engel, J., and Wevers, R.A. (2018). Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients. J Inherit Metab Dis 41, 337-353.

Charif, M., Nasca, A., Thompson, K., Gerber, S., Makowski, C., Mazaheri, N., Bris, C., Goudenege, D., Legati, A., Maroofian, R., Shariati, G., Lamantea, E., Hopton, S., Ardissone, A., Moroni, I., Giannotta, M., Siegel, C., Strom, T.M., Prokisch, H., Vignal-Clermont, C., Derrien, S., Zanlonghi, X., Kaplan, J., Hamel, C.P., Leruez, S., Procaccio, V., Bonneau, D., Reynier, P., White, F.E., Hardy, S.A., Barbosa, I.A., Simpson, M.A., Vara, R., Perdomo Trujillo, Y., Galehdari, H., Deshpande, C., Haack, T.B., Rozet, J.M., Taylor, R.W., Ghezzi, D., Amati-Bonneau, P., and Lenaers, G. (2018). Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults. JAMA Neurol 75, 105-113.

Bruni, F., Di Meo, I., Bellacchio, E., Webb, B.D., McFarland, R., Chrzanowska-Lightowlers, Z.M.A., He, L., Skorupa, E., Moroni, I., Ardissone, A., Walczak, A., Tyynismaa, H., Isohanni, P., Mandel, H., Prokisch, H., Haack, T., Bonnen, P.E., Enrico, B., Pronicka, E., Ghezzi, D., Taylor, R.W., and Diodato, D. (2018). Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial disease. Hum Mutat 39, 563-578.

Alston, C.L., Heidler, J., Dibley, M.G., Kremer, L.S., Taylor, L.S., Fratter, C., French, C.E., Glasgow, R.I.C., Feichtinger, R.G., Delon, I., Pagnamenta, A.T., Dolling, H., Lemonde, H., Aiton, N., Bjornstad, A., Henneke, L., Gartner, J., Thiele, H., Tauchmannova, K., Quaghebeur, G., Houstek, J., Sperl, W., Raymond, F.L., Prokisch, H., Mayr, J.A., McFarland, R., Poulton, J., Ryan, M.T., Wittig, I., Henneke, M., and Taylor, R.W. (2018). Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency. Am J Hum Genet 103, 592-601.

Alhaddad, B., Schossig, A., Haack, T.B., Kovacs-Nagy, R., Braunisch, M.C., Makowski, C., Senderek, J., Vill, K., Muller-Felber, W., Strom, T.M., Krabichler, B., Freisinger, P., Deshpande, C., Polster, T., Wolf, N.I., Desguerre, I., Wormann, F., Rotig, A., Ahting, U., Kopajtich, R., Prokisch, H., Meitinger, T., Feichtinger, R.G., Mayr, J.A., Jungbluth, H., Hubmann, M., Zschocke, J., Distelmaier, F., and Koch, J. (2018). PRUNE1 Deficiency: Expanding the Clinical and Genetic Spectrum. Neuropediatrics 49, 330-338.