Publications

Corresponding Author

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

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.^¶, Kremer, L.S.^¶. (2025) SMIM20 promotes complex IV biogenesis and Ca2+ Signalling in mice heart. Cell Reports, 44(6):115723. doi: 10.1016/j.celrep.2025.115723.

First Author

2024
Kremer, L.S., Rehling, P. (2024). Coordinating mitochondrial translation with assembly of the OXPHOS complexes. Human molecular genetics, 33(R1), R47–R52. https://doi.org/10.1093/hmg/ddae025. Contribution: wrote the manuscript.

2023
Kremer, L.S.*, 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, 19(1), e1010573. doi:org/10.1371/journal.pgen.1010573. Contribution: designed and carried out all mouse experiments, analyzed data, wrote the manuscript.

2019
Kremer, L.S.*, 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. doi:org/10.1007/978-3-030-05517-2_3. Contribution: wrote the manuscript.

2018
Kremer, L.S., Wortmann, S. B., & Prokisch, H. (2018). “Transcriptomics”: molecular diagnosis of inborn errors of metabolism via RNA-sequencing. Journal of Inherited Metabolic Disease, 41(3), 525–532. doi:org/10.1007/s10545-017-0133-4. Contribution: wrote the manuscript.

2017
Feichtinger, R. G.*, Oláhová, M., Kishita, Y.*, Garone, C.*, Kremer, L. S.*, Yagi, M., Uchiumi, T., Jourdain, A. A., Thompson, K., D’Souza, 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(4), 525–538. 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.

Hempel, M.*, Kremer, L. S.*, Tsiakas, K., Alhaddad, B., Haack, T. B., Löbel, 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, 55–61. doi:org/10.1016/j.mito.2017.07.001. Contribution: designed and performed cell culture experiments and complementation assays, analyzed data.

Kremer, L. S.*, Bader, D. M.*, Mertes, C., Kopajtich, R., Pichler, G., Iuso, A., Haack, T. B., Graf, E., Schwarzmayr, T., Terrile, C., Koňaříková, E., Repp, B., Kastenmüller, G., Adamski, J., Lichtner, P., Leonhardt, C., Funalot, B., Donati, A., Tiranti, V., Lombes, A., Jardel, C., Gläser, D., Taylor, R. W., Ghezzi, D., Mayr, J. A., Rötig, 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, 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.

Kremer, L. S., & 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, 391–406. doi:org/10.1007/978-1-4939-6824-4_24. Contribution: wrote the manuscript.

2016
Kremer, L. S.*, Danhauser, K.*, Herebian, D.*, Petkovic Ramadža, D., Piekutowska-Abramczuk, D., Seibt, A., Müller-Felber, W., Haack, T. B., Płoski, 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(4), 894–902. doi:org/10.1016/j.ajhg.2016.07.018. Contribution: performed cell culture experiments, analyzed data.

Van Haute, L.*, Dietmann, S.*, Kremer, L.*, 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, 12039. doi:org/10.1038/ncomms12039. Contribution: designed and performed cell culture experiments and complementation assays, analyzed data.

Kremer, L. S., L’hermitte-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., & Lombès, A. (2016). Severe respiratory complex III defect prevents liver adaptation to prolonged fasting. Journal of Hepatology, 65(2), 377–385. doi:org/10.1016/j.jhep.2016.04.017 Contribution: designed experiments, performed cell culture experiments and complementation assays, analyzed data, wrote the manuscript.

Kremer, L. S.*, Distelmaier, F.,* Alhaddad, B.*, Hempel, M.*, Iuso, A., Küpper, C., Mühlhausen, 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(2), 358–362. doi:org/10.1016/j.ajhg.2015.12.009. Contribution: designed and performed cell culture, biochemical, and imaging experiments, analyzed data.

Co-authorship

2025
Cruz-Zaragoza, L.D., Koschel, M., Yilmaz, M., Morgenstern, M., Boshnakovska, A., Dohrke, J.N., Richts, S., Henningfeld, K., Oeljeklaus, S., Kremer, L.S., Breuer, M., Urbach, O., Warscheid, B., Dahal, D., Zheenbekova, A., Bender, J., Valpadashi, A., Dennerlein, S., Lidschreiber, M., Rehling, P. (2025). Silencing mitochondrial gene expression in living cells. Science, eadr3498. doi: 10.1126/science.adr3498.

2024
Jiang, S., Yuan, T., Rosenberger, F. A., Mourier, A., Dragano, N. R. V., Kremer, L. S., 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., … Larsson, N. G. (2024). Inhibition of mammalian mtDNA transcription acts paradoxically to reverse diet-induced hepatosteatosis and obesity. Nature metabolism, 10.1038/s42255-024-01038-3. Advance online publication. https://doi.org/10.1038/s42255-024-01038-3.

Poerschke, S., Oeljeklaus, S., Cruz-Zaragoza L.D., Schenzielorz, A. Dahal, D., Hillen, H.S., Das, H.; Kremer, L.S., 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. doi:org/10.1016/j.molcel.2023.12.013.

2023
Hansen, F.M., Kremer, L.S., Karayel, O., Bludau, I., Larsson, N.G., Kühl, I., Mann, M. (2023). Mitochondrial phosphoproteomes are functionally specialized across tissues. Life Science Alliance, 7(2):e202302147. doi:org/10.26508/lsa.202302147.

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

2020
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., Prokisch, H., Popper, B., von Toerne, C., Hauck, S. M., Zischka, H., & Meiners, S. (2020). Mitochondrial Regulation of the 26S Proteasome. Cell Reports, 32(8), 108059. doi.org/10.1016/j.celrep.2020.108059.

Stenton, S. L., Kremer, L. S., Kopajtich, R., Ludwig, C., & Prokisch, H. (2020). The diagnosis of inborn errors of metabolism by an integrative “multi-omics” approach: A perspective encompassing genomics, transcriptomics, and proteomics. Journal of Inherited Metabolic Disease, 43(1), 25–35. doi.org/10.1002/jimd.12130.

2019
Catania, A., Iuso, A., Bouchereau, J., Kremer, L. S., Paviolo, M., Terrile, C., Bénit, 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(1), 236. doi:org/10.1186/s13023-019-1185-3.

Van Bergen, N. J., Guo, Y., Rankin, J., Paczia, N., Becker-Kettern, J., Kremer, L. S., 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 : A Journal of Neurology, 142(1), 50–58. doi:org/10.1093/brain/awy310.

2018
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., Bjørnstad, A., Henneke, L., Gärtner, 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(4), 592–601. doi:org/10.1016/j.ajhg.2018.08.013.

Yépez, V. A., Kremer, L. S., Iuso, A., Gusic, M., Kopajtich, R., Koňaříková, 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(7), e0199938. doi:org/10.1371/journal.pone.0199938

Perkins, L. A., Yan, Q., Schmidt, B. F., Kolodieznyi, D., Saurabh, S., Larsen, M. B., Watkins, S. C., Kremer, L., & Bruchez, M. P. (2018). Genetically Targeted Ratiometric and Activated pH Indicator Complexes (TRApHIC) for Receptor Trafficking. Biochemistry, 57(5), 861–871. doi:org/10.1021/acs.biochem.7b01135.

2016
Haack, T. B., Ignatius, E., Calvo-Garrido, J., Iuso, A., Isohanni, P., Maffezzini, C., Lönnqvist, T., Suomalainen, A., Gorza, M., Kremer, L. S., 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(3), 735–743. doi:org/10.1016/j.ajhg.2016.06.026.

Kennedy, H., Haack, T. B., Hartill, V., Mataković, L., Baumgartner, E. R., Potter, H., Mackay, R., Alston, C. L., O’Sullivan, S., McFarland, R., Connolly, G., Gannon, C., King, R., Mead, S., Crozier, I., Chan, W., Florkowski, C. M., Sage, M., Höfken, T., Alhaddad, B., Kremer, L. S., 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(3), 674–682. doi:org/10.1016/j.ajhg.2016.06.027.

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., 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(4), 621–632. doi:org/10.1016/j.molcel.2016.06.033.

Holzerova, E., Danhauser, K., Haack, T. B., Kremer, L. S., 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 : A Journal of Neurology, 139(Pt 2), 346–354. doi:org/10.1093/brain/awv350.

2015
Powell, C. A., Kopajtich, R., D’Souza, A. R., Rorbach, J., Kremer, L. S., 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(2), 319–328. doi:org/10.1016/j.ajhg.2015.06.011.

Haack, T. B., Staufner, C., Köpke, M. G., Straub, B. K., Kölker, S., Thiel, C., Freisinger, P., Baric, I., McKiernan, P. J., Dikow, N., Harting, I., Beisse, F., Burgard, P., Kotzaeridou, U., Kühr, J., Himbert, U., Taylor, R. W., Distelmaier, F., Vockley, J., Ghaloul-Gonzalez, L., Zschocke, J., Kremer, L. S., 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(1), 163–169. doi:org/10.1016/j.ajhg.2015.05.009.

Haack, T. B., Jackson, C. B., Murayama, K., Kremer, L. S., Schaller, A., Kotzaeridou, U., de Vries, M. C., Schottmann, G., Santra, S., Büchner, 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., Kölker, S., Prokisch, H., & Klopstock, T. (2015). Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement. Annals of Clinical and Translational Neurology, 2(5), 492–509. doi:org/10.1002/acn3.189.

Brea-Calvo, G., Haack, T. B., Karall, D., Ohtake, A., Invernizzi, F., Carrozzo, R., Kremer, L., Dusi, S., Fauth, C., Scholl-Bürgi, 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(2), 309–317. doi:org/10.1016/j.ajhg.2014.12.023.

Tischner, C., Hofer, A., Wulff, V., Stepek, J., Dumitru, I., Becker, L., Haack, T., Kremer, L., 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(8), 2247–2266. doi:org/10.1093/hmg/ddu743.

2014
Haack, T. B., Gorza, M., Danhauser, K., Mayr, J. A., Haberberger, B., Wieland, T., Kremer, L., 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(3), 342–352. doi:org/10.1016/j.ymgme.2013.12.010.

2013
Hildick-Smith, G. J., Cooney, J. D., Garone, C., Kremer, L. S., 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(5), 906–914. doi:org/10.1016/j.ajhg.2013.09.011.

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., 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(3), 482–495. doi:org/10.1016/j.ajhg.2013.07.016.

* Shared first authorship
^¶ Shared corresponding authorship