{"id":7936,"date":"2025-06-19T12:37:27","date_gmt":"2025-06-19T10:37:27","guid":{"rendered":"https:\/\/biochemie.uni-goettingen.de\/?page_id=7936"},"modified":"2025-11-14T10:51:36","modified_gmt":"2025-11-14T09:51:36","slug":"publications-kremer","status":"publish","type":"page","link":"https:\/\/biochemie.uni-goettingen.de\/index.php\/publications-kremer\/","title":{"rendered":"Publications Kremer"},"content":{"rendered":"

\u00a0<\/h3>\n

Publications<\/h3>\n

Corresponding Author
<\/b><\/h4>\n

2025<\/strong>
Kremer LS<\/strong>\u00b6<\/sup>, Golder Z, Barton-Owen T, Papadea P, Koolmeister C, Chinnery PF, Larsson NG. (2025) The bottleneck for maternal transmission of mtDNA is linked to purifying selection by autophagy. Sci Adv., <\/em>2025 Nov 14;11(46):eaea4660.<\/a><\/p>\n

Kremer LS<\/strong>*,\u00b6<\/sup>, Gao G, Rigoni G, Filograna R, Mennuni M, Wibom R, V\u00e9gv\u00e1ri \u00c1, Koolmeister C, Larsson NG. (2025) Tissue-specific responses to TFAM and mtDNA copy number manipulation in prematurely ageing mice. Elife,<\/em>14:RP104461.<\/a><\/p>\n

Boshnakovska A, Pronto JR, Gall T, Aich A, Prochazka J, Nichtova Z, Sedlacek R, Sobitov I, Ainatzi S, Lenz C, Katschinski DM, Urlaub H, Voigt N, Rehling P, Kremer LS<\/strong>. (2025) SMIM20 promotes complex IV biogenesis and Ca2+ signaling in mice heart. Cell Rep, 44<\/em>(6):115723.<\/a><\/p>\n

Kremer, L.S.<\/strong>*,\u00b6<\/sup>, Gao, G.*<\/sup>, Rigoni, G., Filograna, R., Mennuni, M., Wibom, R., Vegvari, A., Koolmeister, C., Larsson, N.G.\u00b6<\/sup>. (2025) Tissue-specific responses to TFAM and mtDNA copy number manipulation in prematurely ageing mice. eLife<\/em> 14:RP104461 https:\/\/doi.org\/10.7554\/eLife.104461.1.<\/a><\/p>\n

Boshnakovska, A., Pronto, J.R., Gall, T., Aich, A., Prochazka, J., Nichtova, Z., Sedlacek, R., Ainatzi, S., Lenz, C., Katschinski, D.M., Urlaub, H., Voigt, N., Rehling, P.\u00b6<\/sup>, Kremer, L.S.<\/strong>\u00b6<\/sup>. (2025) SMIM20 promotes complex IV biogenesis and Ca2+ Signalling in mice heart. Cell Reports, 44<\/em>(6):115723. doi: 10.1016\/j.celrep.2025.115723.<\/a><\/p>\n

First Author
<\/b><\/h4>\n

2024<\/strong>
Kremer, L.S.<\/strong>, Rehling, P. (2024). Coordinating mitochondrial translation with assembly of the OXPHOS complexes. Human molecular genetics<\/em>, 33(R1), R47\u2013R52. https:\/\/doi.org\/10.1093\/hmg\/ddae025. Contribution: wrote the manuscript.<\/a><\/p>\n

2023<\/strong>
Kremer, L.S.<\/strong>*, Bozhilova, L.*, Rubalcava-Gracia, D., Filograna, R., Upadhyay, M., Koolmeister, C., Chinnery, P.F., Larsson, N.G. (2023). A role for BCL2L13 and autophagy in germ line purifying selection of mtDNA. PLoS genetics<\/em>, 19(1), e1010573. doi:org\/10.1371\/journal.pgen.1010573. Contribution: designed and carried out all mouse experiments, analyzed data, wrote the manuscript.<\/a><\/p>\n

2019<\/strong>
Kremer, L.S.<\/strong>*, McCormick, E.M.*, Prokisch, H., Falk, M.J. (2019). Mitochondrial Disease Genetics. In: Mancuso, M., Klopstock, T. (eds) Diagnosis and Management of Mitochondrial Disorders. Springer, Cham.<\/em> doi:org\/10.1007\/978-3-030-05517-2_3. Contribution: wrote the manuscript.<\/a><\/p>\n

2018<\/strong>
Kremer, L.S.<\/strong>, Wortmann, S. B., & Prokisch, H. (2018). \u201cTranscriptomics\u201d: molecular diagnosis of inborn errors of metabolism via RNA-sequencing. Journal of Inherited Metabolic Disease, 41<\/em>(3), 525\u2013532. doi:org\/10.1007\/s10545-017-0133-4. Contribution: wrote the manuscript.<\/a><\/p>\n

2017<\/strong>
Feichtinger, R. G.*, Ol\u00e1hov\u00e1, M., Kishita, Y.*, Garone, C.*, Kremer, L. S.<\/strong>*, Yagi, M., Uchiumi, T., Jourdain, A. A., Thompson, K., D\u2019Souza, A. R., Kopajtich, R., Alston, C. L., Koch, J., Sperl, W., Mastantuono, E., Strom, T. M., Wortmann, S. B., Meitinger, T., Pierre, G., Chinnery, P. F., Chrzanowska-Lightowlers, Z. M., Lightowlers, R. N., DiMauro, S., Calvo, S. E., Mootha, V. K., Moggio, M., Sciacco, M., Comi, G. P., Ronchi, D., Murayama, K., Ohtake, A., Rebelo-Guiomar, P., Kohda, M., Kang, D., Mayr, J. A., Taylor, R. W., Okazaki, Y., Minczuk, M., & Prokisch, H. (2017). Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies. American Journal of Human Genetics, 101<\/em>(4), 525\u2013538. doi:org\/10.1016\/j.ajhg.2017.08.015. Contribution: analyzed genomic data, identified the disease-causing mutation, designed and performed cell culture experiments and complementation assays, wrote the manuscript.<\/a><\/p>\n

Hempel, M.*, Kremer, L. S.<\/strong>*, Tsiakas, K., Alhaddad, B., Haack, T. B., L\u00f6bel, U., Feichtinger, R. G., Sperl, W., Prokisch, H., Mayr, J. A., & Santer, R. (2017). LYRM7 – associated complex III deficiency: A clinical, molecular genetic, MR tomographic, and biochemical study. Mitochondrion, 37,<\/em> 55\u201361. doi:org\/10.1016\/j.mito.2017.07.001. Contribution: designed and performed cell culture experiments and complementation assays, analyzed data.<\/a><\/p>\n

Kremer, L. S.<\/strong>*, Bader, D. M.*, Mertes, C., Kopajtich, R., Pichler, G., Iuso, A., Haack, T. B., Graf, E., Schwarzmayr, T., Terrile, C., Ko\u0148a\u0159\u00edkov\u00e1, E., Repp, B., Kastenm\u00fcller, G., Adamski, J., Lichtner, P., Leonhardt, C., Funalot, B., Donati, A., Tiranti, V., Lombes, A., Jardel, C., Gl\u00e4ser, D., Taylor, R. W., Ghezzi, D., Mayr, J. A., R\u00f6tig, A., Freisinger, P., Distelmaier, F., Strom, T. M., Meitinger, T., Gagneur, J., & Prokisch, H. (2017). Genetic diagnosis of Mendelian disorders via RNA sequencing. Nature Communications, 8,<\/em> 15824. doi:org\/10.1038\/ncomms15824. Contribution: performed the cell culture experiments, complementation assays, biochemical measurements, and western blot analysis, analyzed genomic, transcriptomic, proteomic, and metabolic data, identified the disease-causing mutations, wrote the manuscript.<\/a><\/p>\n

Kremer, L. S.<\/strong>, & Prokisch, H. (2017). Identification of Disease-Causing Mutations by Functional Complementation of Patient-Derived Fibroblast Cell Lines. Methods in Molecular Biology (Clifton, N.J.), 1567,<\/em> 391\u2013406. doi:org\/10.1007\/978-1-4939-6824-4_24. Contribution: wrote the manuscript.<\/a><\/p>\n

2016<\/strong>
Kremer, L. S.<\/strong>*, Danhauser, K.*, Herebian, D.*, Petkovic Ramad\u017ea, D., Piekutowska-Abramczuk, D., Seibt, A., M\u00fcller-Felber, W., Haack, T. B., P\u0142oski, R., Lohmeier, K., Schneider, D., Klee, D., Rokicki, D., Mayatepek, E., Strom, T. M., Meitinger, T., Klopstock, T., Pronicka, E., Mayr, J. A., Baric, I., Distelmaier, F., & Prokisch, H. (2016). NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood. American Journal of Human Genetics, 99<\/em>(4), 894\u2013902. doi:org\/10.1016\/j.ajhg.2016.07.018. Contribution: performed cell culture experiments, analyzed data.<\/a><\/p>\n

Van Haute, L.*, Dietmann, S.*, Kremer, L.<\/strong>*, Hussain, S.*, Pearce, S. F., Powell, C. A., Rorbach, J., Lantaff, R., Blanco, S., Sauer, S., Kotzaeridou, U., Hoffmann, G. F., Memari, Y., Kolb-Kokocinski, A., Durbin, R., Mayr, J. A., Frye, M., Prokisch, H., & Minczuk, M. (2016). Deficient methylation and formylation of mt-tRNA(Met) wobble cytosine in a patient carrying mutations in NSUN3. Nature Communications, 7<\/em>, 12039. doi:org\/10.1038\/ncomms12039. Contribution: designed and performed cell culture experiments and complementation assays, analyzed data.<\/a><\/p>\n

Kremer, L. S.<\/strong>, L\u2019hermitte-Stead, C., Lesimple, P., Gilleron, M., Filaut, S., Jardel, C., Haack, T. B., Strom, T. M., Meitinger, T., Azzouz, H., Tebib, N., Ogier de Baulny, H., Touati, G., Prokisch, H., & Lomb\u00e8s, A. (2016). Severe respiratory complex III defect prevents liver adaptation to prolonged fasting. Journal of Hepatology, 65<\/em>(2), 377\u2013385. doi:org\/10.1016\/j.jhep.2016.04.017 Contribution: designed experiments, performed cell culture experiments and complementation assays, analyzed data, wrote the manuscript.<\/a><\/p>\n

Kremer, L. S.<\/strong>*, Distelmaier, F.,* Alhaddad, B.*, Hempel, M.*, Iuso, A., K\u00fcpper, C., M\u00fchlhausen, C., Kovacs-Nagy, R., Satanovskij, R., Graf, E., Berutti, R., Eckstein, G., Durbin, R., Sauer, S., Hoffmann, G. F., Strom, T. M., Santer, R., Meitinger, T., Klopstock, T., Prokisch, H., & Haack, T. B. (2016). Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy. American Journal of Human Genetics, 98<\/em>(2), 358\u2013362. doi:org\/10.1016\/j.ajhg.2015.12.009. Contribution: designed and performed cell culture, biochemical, and imaging experiments, analyzed data.<\/a><\/p>\n

Co-authorship
<\/b><\/h4>\n

2025<\/strong>
Cruz-Zaragoza LD, Dahal D, Koschel M, Boshnakovska A, Zheenbekova A, Yilmaz M, Morgenstern M, Dohrke JN, Bender J, Valpadashi A, Henningfeld KA, Oeljeklaus S, Kremer LS<\/strong>, Breuer M, Urbach O, Dennerlein S, Lidschreiber M, Jakobs S, Warscheid B, Rehling P. (2025) Silencing mitochondrial gene expression in living cells. Science.<\/em> 2025 May 22;389(6759):eadr3498.<\/a><\/p>\n

2024<\/strong>
Jiang, S., Yuan, T., Rosenberger, F. A., Mourier, A., Dragano, N. R. V., Kremer, L. S.<\/strong>, Rubalcava-Gracia, D., Hansen, F. M., Borg, M., Mennuni, M., Filograna, R., Alsina, D., Misic, J., Koolmeister, C., Papadea, P., de Angelis, M. H., Ren, L., Andersson, O., Unger, A., Bergbrede, T., \u2026 Larsson, N. G. (2024). Inhibition of mammalian mtDNA transcription acts paradoxically to reverse diet-induced hepatosteatosis and obesity. Nature metabolism<\/em>, 10.1038\/s42255-024-01038-3. Advance online publication. https:\/\/doi.org\/10.1038\/s42255-024-01038-3.<\/a><\/p>\n

Poerschke, S., Oeljeklaus, S., Cruz-Zaragoza L.D., Schenzielorz, A. Dahal, D., Hillen, H.S., Das, H.; Kremer, L.S.<\/strong>, Valpadashi, A., Breuer, M., Sattmann, J., Richter-Dennerlein, R., Warscheid, B., Dennerlein, S., Rehling, P. (2024). Identification of TMEM126A as OXA1L-interacting protein reveals cotranslational quality control in mitochondria. Molecular Cell.<\/em> doi:org\/10.1016\/j.molcel.2023.12.013.<\/a><\/p>\n

2023<\/strong>
Hansen, F.M., Kremer, L.S.<\/strong>, Karayel, O., Bludau, I., Larsson, N.G., K\u00fchl, I., Mann, M. (2023). Mitochondrial phosphoproteomes are functionally specialized across tissues. Life Science Alliance,<\/em> 7(2):e202302147. doi:org\/10.26508\/lsa.202302147.<\/a><\/p>\n

2021<\/strong>
Mertes, C., Scheller, I. F., Y\u00e9pez, V. A., \u00c7elik, M. H., Liang, Y., Kremer, L. S.<\/strong>, Gusic, M., Prokisch, H., & Gagneur, J. (2021). Detection of aberrant splicing events in RNA-seq data using FRASER. Nature Communications, 12<\/em>(1), 529. doi:10.1038\/s41467-020-20573-7.<\/a><\/p>\n

2020<\/strong>
Meul, T., Berschneider, K., Schmitt, S., Mayr, C. H., Mattner, L. F., Schiller, H. B., Yazgili, A. S., Wang, X., Lukas, C., Schlesser, C., Prehn, C., Adamski, J., Graf, E., Schwarzmayr, T., Perocchi, F., Kukat, A., Trifunovic, A., Kremer, L.<\/strong>, Prokisch, H., Popper, B., von Toerne, C., Hauck, S. M., Zischka, H., & Meiners, S. (2020). Mitochondrial Regulation of the 26S Proteasome. Cell Reports, 32<\/em>(8), 108059. doi.org\/10.1016\/j.celrep.2020.108059.<\/a><\/p>\n

Stenton, S. L., Kremer, L. S.<\/strong>, Kopajtich, R., Ludwig, C., & Prokisch, H. (2020). The diagnosis of inborn errors of metabolism by an integrative \u201cmulti-omics\u201d approach: A perspective encompassing genomics, transcriptomics, and proteomics. Journal of Inherited Metabolic Disease, 43<\/em>(1), 25\u201335. doi.org\/10.1002\/jimd.12130.<\/a><\/p>\n

2019<\/strong>
Catania, A., Iuso, A., Bouchereau, J., Kremer, L. S.<\/strong>, Paviolo, M., Terrile, C., B\u00e9nit, P., Rasmusson, A. G., Schwarzmayr, T., Tiranti, V., Rustin, P., Rak, M., Prokisch, H., & Schiff, M. (2019). Arabidopsis thaliana alternative dehydrogenases: a potential therapy for mitochondrial complex I deficiency? Perspectives and pitfalls. Orphanet Journal of Rare Diseases, 14<\/em>(1), 236. doi:org\/10.1186\/s13023-019-1185-3.<\/a><\/p>\n

Van Bergen, N. J., Guo, Y., Rankin, J., Paczia, N., Becker-Kettern, J., Kremer, L. S.<\/strong>, Pyle, A., Conrotte, J.-F., Ellaway, C., Procopis, P., Prelog, K., Homfray, T., Baptista, J., Baple, E., Wakeling, M., Massey, S., Kay, D. P., Shukla, A., Girisha, K. M., Lewis, L. E. S., Santra, S., Power, R., Daubeney, P., Montoya, J., Ruiz-Pesini, E., Kovacs-Nagy, R., Pritsch, M., Ahting, U., Thorburn, D. R., Prokisch, H., Taylor, R. W., Christodoulou, J., Linster, C. L., Ellard, S., & Hakonarson, H. (2019). NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses. Brain\u202f: A Journal of Neurology, 142<\/em>(1), 50\u201358. doi:org\/10.1093\/brain\/awy310.<\/a><\/p>\n

2018<\/strong>
Alston, C. L., Heidler, J., Dibley, M. G., Kremer, L. S.<\/strong>, 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., Bj\u00f8rnstad, A., Henneke, L., G\u00e4rtner, 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., & Taylor, R. W. (2018). Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency. American Journal of Human Genetics, 103<\/em>(4), 592\u2013601. doi:org\/10.1016\/j.ajhg.2018.08.013.<\/a><\/p>\n

Y\u00e9pez, V. A., Kremer, L. S.<\/strong>, Iuso, A., Gusic, M., Kopajtich, R., Ko\u0148a\u0159\u00edkov\u00e1, E., Nadel, A., Wachutka, L., Prokisch, H., & Gagneur, J. (2018). OCR-Stats: Robust estimation and statistical testing of mitochondrial respiration activities using Seahorse XF Analyzer. PloS One, 13<\/em>(7), e0199938. doi:org\/10.1371\/journal.pone.0199938<\/a><\/p>\n

Perkins, L. A., Yan, Q., Schmidt, B. F., Kolodieznyi, D., Saurabh, S., Larsen, M. B., Watkins, S. C., Kremer, L.<\/strong>, & Bruchez, M. P. (2018). Genetically Targeted Ratiometric and Activated pH Indicator Complexes (TRApHIC) for Receptor Trafficking. Biochemistry, 57<\/em>(5), 861\u2013871. doi:org\/10.1021\/acs.biochem.7b01135.<\/a><\/p>\n

2016<\/strong>
Haack, T. B., Ignatius, E., Calvo-Garrido, J., Iuso, A., Isohanni, P., Maffezzini, C., L\u00f6nnqvist, T., Suomalainen, A., Gorza, M., Kremer, L. S.<\/strong>, Graf, E., Hartig, M., Berutti, R., Paucar, M., Svenningsson, P., Stranneheim, H., Brandberg, G., Wedell, A., Kurian, M. A., Hayflick, S. A., Venco, P., Tiranti, V., Strom, T. M., Dichgans, M., Horvath, R., Holinski-Feder, E., Freyer, C., Meitinger, T., Prokisch, H., Senderek, J., Wredenberg, A., Carroll, C. J., & Klopstock, T. (2016). Absence of the Autophagy Adaptor SQSTM1\/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy. American Journal of Human Genetics, 99<\/em>(3), 735\u2013743. doi:org\/10.1016\/j.ajhg.2016.06.026.<\/a><\/p>\n

Kennedy, H., Haack, T. B., Hartill, V., Matakovi\u0107, L., Baumgartner, E. R., Potter, H., Mackay, R., Alston, C. L., O\u2019Sullivan, S., McFarland, R., Connolly, G., Gannon, C., King, R., Mead, S., Crozier, I., Chan, W., Florkowski, C. M., Sage, M., H\u00f6fken, T., Alhaddad, B., Kremer, L. S.<\/strong>, Kopajtich, R., Feichtinger, R. G., Sperl, W., Rodenburg, R. J., Minet, J. C., Dobbie, A., Strom, T. M., Meitinger, T., George, P. M., Johnson, C. A., Taylor, R. W., Prokisch, H., Doudney, K., & Mayr, J. A. (2016). Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2. American Journal of Human Genetics, 99<\/em>(3), 674\u2013682. doi:org\/10.1016\/j.ajhg.2016.06.027.<\/a><\/p>\n

Floyd, B. J., Wilkerson, E. M., Veling, M. T., Minogue, C. E., Xia, C., Beebe, E. T., Wrobel, R. L., Cho, H., Kremer, L. S.<\/strong>, Alston, C. L., Gromek, K. A., Dolan, B. K., Ulbrich, A., Stefely, J. A., Bohl, S. L., Werner, K. M., Jochem, A., Westphall, M. S., Rensvold, J. W., Taylor, R. W., Prokisch, H., Kim, J.-J. P., Coon, J. J., & Pagliarini, D. J. (2016). Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function. Molecular Cell, 63<\/em>(4), 621\u2013632. doi:org\/10.1016\/j.molcel.2016.06.033.<\/a><\/p>\n

Holzerova, E., Danhauser, K., Haack, T. B., Kremer, L. S.<\/strong>, Melcher, M., Ingold, I., Kobayashi, S., Terrile, C., Wolf, P., Schaper, J., Mayatepek, E., Baertling, F., Friedmann Angeli, J. P., Conrad, M., Strom, T. M., Meitinger, T., Prokisch, H., & Distelmaier, F. (2016). Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early-onset neurodegeneration. Brain\u202f: A Journal of Neurology, 139<\/em>(Pt 2), 346\u2013354. doi:org\/10.1093\/brain\/awv350.<\/a><\/p>\n

2015<\/strong>
Powell, C. A., Kopajtich, R., D\u2019Souza, A. R., Rorbach, J., Kremer, L. S.<\/strong>, Husain, R. A., Dallabona, C., Donnini, C., Alston, C. L., Griffin, H., Pyle, A., Chinnery, P. F., Strom, T. M., Meitinger, T., Rodenburg, R. J., Schottmann, G., Schuelke, M., Romain, N., Haller, R. G., Ferrero, I., Haack, T. B., Taylor, R. W., Prokisch, H., & Minczuk, M. (2015). TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies. American Journal of Human Genetics, 97<\/em>(2), 319\u2013328. doi:org\/10.1016\/j.ajhg.2015.06.011.<\/a><\/p>\n

Haack, T. B., Staufner, C., K\u00f6pke, M. G., Straub, B. K., K\u00f6lker, S., Thiel, C., Freisinger, P., Baric, I., McKiernan, P. J., Dikow, N., Harting, I., Beisse, F., Burgard, P., Kotzaeridou, U., K\u00fchr, J., Himbert, U., Taylor, R. W., Distelmaier, F., Vockley, J., Ghaloul-Gonzalez, L., Zschocke, J., Kremer, L. S.<\/strong>, Graf, E., Schwarzmayr, T., Bader, D. M., Gagneur, J., Wieland, T., Terrile, C., Strom, T. M., Meitinger, T., Hoffmann, G. F., & Prokisch, H. (2015). Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy. American Journal of Human Genetics, 97<\/em>(1), 163\u2013169. doi:org\/10.1016\/j.ajhg.2015.05.009.<\/a><\/p>\n

Haack, T. B., Jackson, C. B., Murayama, K., Kremer, L. S.<\/strong>, Schaller, A., Kotzaeridou, U., de Vries, M. C., Schottmann, G., Santra, S., B\u00fcchner, B., Wieland, T., Graf, E., Freisinger, P., Eggimann, S., Ohtake, A., Okazaki, Y., Kohda, M., Kishita, Y., Tokuzawa, Y., Sauer, S., Memari, Y., Kolb-Kokocinski, A., Durbin, R., Hasselmann, O., Cremer, K., Albrecht, B., Wieczorek, D., Engels, H., Hahn, D., Zink, A. M., Alston, C. L., Taylor, R. W., Rodenburg, R. J., Trollmann, R., Sperl, W., Strom, T. M., Hoffmann, G. F., Mayr, J. A., Meitinger, T., Bolognini, R., Schuelke, M., Nuoffer, J.-M., K\u00f6lker, S., Prokisch, H., & Klopstock, T. (2015). Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement. Annals of Clinical and Translational Neurology, 2<\/em>(5), 492\u2013509. doi:org\/10.1002\/acn3.189.<\/a><\/p>\n

Brea-Calvo, G., Haack, T. B., Karall, D., Ohtake, A., Invernizzi, F., Carrozzo, R., Kremer, L.<\/strong>, Dusi, S., Fauth, C., Scholl-B\u00fcrgi, S., Graf, E., Ahting, U., Resta, N., Laforgia, N., Verrigni, D., Okazaki, Y., Kohda, M., Martinelli, D., Freisinger, P., Strom, T. M., Meitinger, T., Lamperti, C., Lacson, A., Navas, P., Mayr, J. A., Bertini, E., Murayama, K., Zeviani, M., Prokisch, H., & Ghezzi, D. (2015). COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency. American Journal of Human Genetics, 96<\/em>(2), 309\u2013317. doi:org\/10.1016\/j.ajhg.2014.12.023.<\/a><\/p>\n

Tischner, C., Hofer, A., Wulff, V., Stepek, J., Dumitru, I., Becker, L., Haack, T., Kremer, L.<\/strong>, Datta, A. N., Sperl, W., Floss, T., Wurst, W., Chrzanowska-Lightowlers, Z., De Angelis, M. H., Klopstock, T., Prokisch, H., & Wenz, T. (2015). MTO1 mediates tissue specificity of OXPHOS defects via tRNA modification and translation optimization, which can be bypassed by dietary intervention. Human Molecular Genetics, 24<\/em>(8), 2247\u20132266. doi:org\/10.1093\/hmg\/ddu743.<\/a><\/p>\n

2014<\/strong>
Haack, T. B., Gorza, M., Danhauser, K., Mayr, J. A., Haberberger, B., Wieland, T., Kremer, L.<\/strong>, Strecker, V., Graf, E., Memari, Y., Ahting, U., Kopajtich, R., Wortmann, S. B., Rodenburg, R. J., Kotzaeridou, U., Hoffmann, G. F., Sperl, W., Wittig, I., Wilichowski, E., Schottmann, G., Schuelke, M., Plecko, B., Stephani, U., Strom, T. M., Meitinger, T., Prokisch, H., & Freisinger, P. (2014). Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening. Molecular Genetics and Metabolism, 111<\/em>(3), 342\u2013352. doi:org\/10.1016\/j.ymgme.2013.12.010.<\/a><\/p>\n

2013<\/strong>
Hildick-Smith, G. J., Cooney, J. D., Garone, C., Kremer, L. S.<\/strong>, Haack, T. B., Thon, J. N., Miyata, N., Lieber, D. S., Calvo, S. E., Akman, H. O., Yien, Y. Y., Huston, N. C., Branco, D. S., Shah, D. I., Freedman, M. L., Koehler, C. M., Italiano, J. E. J., Merkenschlager, A., Beblo, S., Strom, T. M., Meitinger, T., Freisinger, P., Donati, M. A., Prokisch, H., Mootha, V. K., DiMauro, S., & Paw, B. H. (2013). Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4. American Journal of Human Genetics, 93<\/em>(5), 906\u2013914. doi:org\/10.1016\/j.ajhg.2013.09.011.<\/a><\/p>\n

Gai, X., Ghezzi, D., Johnson, M. A., Biagosch, C. A., Shamseldin, H. E., Haack, T. B., Reyes, A., Tsukikawa, M., Sheldon, C. A., Srinivasan, S., Gorza, M., Kremer, L. S.<\/strong>, Wieland, T., Strom, T. M., Polyak, E., Place, E., Consugar, M., Ostrovsky, J., Vidoni, S., Robinson, A. J., Wong, L.-J., Sondheimer, N., Salih, M. A., Al-Jishi, E., Raab, C. P., Bean, C., Furlan, F., Parini, R., Lamperti, C., Mayr, J. A., Konstantopoulou, V., Huemer, M., Pierce, E. A., Meitinger, T., Freisinger, P., Sperl, W., Prokisch, H., Alkuraya, F. S., Falk, M. J., & Zeviani, M. (2013). Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy. American Journal of Human Genetics, 93<\/em>(3), 482\u2013495. doi:org\/10.1016\/j.ajhg.2013.07.016.<\/a><\/p>\n

* Shared first authorship
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