Entries to the MPG Publication Repository

Boschann, F.; Kopp, J.; Römer, S.; Küchler, O.; Lyubenova, H.; von Kügelgen, N.; Hertstein, E.; Hagelstein, L.; Becker, C.; Becker, K. et al.; Brachs, S.; Mai, K.; Meierhofer, D.; Seelow, D.; Mundlos, S.; Horn, D.; Schuelke, M.; Fischer-Zirnsak, B.: A biallelic MRPL42 variant causes a combined oxidative phosphorylation deficiency syndrome revealed by multi-omics. npj Genomic Medicine 11, 20 (2026)

Zink, A.; Dai, D.-F.; Wittich, A.; Henke, M.-T.; Pedrotti, G.; Heiduschka, S.; Santamaria, G.; Pentimalli, T. M.; Brueser, C.; Notopoulou, S. et al.; Umar, A. R.; Zhaivoron, A.; Petersilie, L.; Jerred, C.; Bergmans, J.; Neu, L. A.; Schumacher, F.; Keller-Findeisen, J.; Rybak-Wolf, A.; Stach, D.; Reinshagen, J.; Haferkamp, U.; Krieg, K.; Zaliani, A.; Euro, L.; Di Donfrancesco, A.; Santanatoglia, C.; Cappellozza, E.; Suarez Cubero, M.; Pavez-Giani, M.; Bakumenko, O.; Meierhofer, D.; Foley, A.; Morales-Gonzalez, S.; Tolle, I.; Herebian, D.; Bonesso, D.; Cecchetto, G.; Wong, S. N.; Moresco, M.; Maresca, A.; Decimo, I.; De Sanctis, F.; Adamo, A.; Adjobo-Hermans, M. J.W.; Duchi, R.; Barandalla, M.; Scaglia, M.; Perota, A.; Galli, C.; Kleuser, B.; Cyganek, L.; Mühlhausen, C.; Schlotawa, L.; Tiranti, V.; Mayatepek, E.; Szabo, I.; La Morgia, C.; Klopstock, T.; Carelli, V.; Distelmaier, F.; Rossi, A.; Rajewsky, N.; Ullah, G.; Jakobs, S.; Rose, C. R.; Petrakis, S.; Edenhofer, F.; Koopman, W. J.H.; Lisowski, P.; Suomalainen, A.; Brunetti, D.; del Sol, A.; Bottani, E.; Pless, O.; Schuelke, M.; Prigione, A.: Pluripotent stem-cell-based screening uncovers sildenafil as a mitochondrial disease therapy. Cell 189, pp. 1656 - 1679.e42 (2026)

Malszycki, M.; Martina, L.; Ilik, I. A.; Salgado Figueroa, D.; Dasgupta, N.; Çoşar, M. F.; Kim, K.-T.; Carraco, G.; Fauler, B.; Meierhofer, D. et al.; Mielke, T.; Imai, H.; Alev, C.; Ay, F.; Aktas, T.: Nuclear speckles enable processing of RNA from GC-rich isochores. Cell (2026)

Schliephake, F.; Lurje, I.; Uluk, D.; Eden, J.; Czigany, Z.; Pein, J.; Husen, P.; Engelmann, C.; Michalski, C.; Kohlhepp, M. et al.; Strnad, P.; Dutkowski, P.; Tacke, F.; Neumann, U. P.; Meierhofer, D.; Lurje, G.: Effects of hypothermic oxygenated machine perfusion on bile composition after liver transplantation – Findings from a randomized controlled trial. JHEP Reports 8, 101647, p. 101647 (2026)

Almaguer-Mederos, L. E.; Key, J.; Sen, N.-E.; Canet-Pons, J.; Döring, C.; Meierhofer, D.; Gispert-Sánchez, S.; Cuello-Almarales, D.; Almaguer-Gotay, D.; Osorio-González, L. M. et al.; Aguilera-Rodríguez, R.; Medrano-Montero, J.; Auburger, G.: Multiomics approach identifies SERPINB1 as candidate biomarker for spinocerebellar ataxia type 2. Scientific Reports 15, 42559 (2025)

Key, J.; Almaguer-Mederos, L.-E.; Kandi, A. R.; Fellenz, M.; Gispert, S.; Köpf, G.; Meierhofer, D.; Deller, T.; Auburger, G.: Conditional ATXN2L-Null in Adult Frontal Cortex CamK2a+ Neurons Does Not Cause Cell Death but Restricts Spontaneous Mobility and Affects the Alternative Splicing Pathway. Cells 14, p. 1532 (2025)

Luige, J.; Conrad, T.; Armaos, A.; Louloupi, A.; Vincent, A.; Meierhofer, D.; Gajhede, M.; Tartaglia, G. G.; Ørom, U. A. V.: Design and characterization of G-quadruplex RNA aptamers reveal RNA-binding by KDM5 lysine demethylases. Computational and Structural Biotechnology Journal 27, pp. 2719 - 2729 (2025)

Zhang, Y.; Stöppelkamp, I.; Fernandez-Pernas, P.; Allram, M.; Charman, M.; Magalhães, A. P.; Piedavent-Salomon, M.; Sommer, G.; Sung, Y.-C.; Meyer, K. et al.; Grams, N.; Halko, E.; Dongre, S.; Meierhofer, D.; Malszycki, M.; Ilik, I. A.; Aktas, T.; Kraushar, M. L.; Vastenhouw, N.; Weitzman, M. D.; Grebien, F.; Niskanen, H.; Hnisz, D.: Probing condensate microenvironments with a micropeptide killswitch. Nature (2025)

Key, J.; Almaguer-Mederos, L.-E.; Reddy Kandi, A.; Sen, N.-E.; Gispert, S.; Köpf, G.; Meierhofer, D.; Auburger, G.: ATXN2L primarily interacts with NUFIP2, the absence of ATXN2L results in NUFIP2 depletion, and the ATXN2-polyQ expansion triggers NUFIP2 accumulation. Neurobiology of Disease 209, Article 106903 (2025)

Sun, K.; Jiao, C.; Panconesi, R.; Satish, S.; Karakaya, O. F.; De Goeij, F. H. C.; Diwan, T.; Ali, K.; Cadinu, L. A.; Cazzaniga, B. et al.; Liu, Q.; Miyazaki, Y.; Pita, A.; Khalil, M.; Kim, .; Hussein, A.; Müller, P. C.; Aucejo, F.; Kwon, D. H. C.; Fernandes, E.; Modaresi Esfeh, J.; Cywinski, J.; Fujiki, M.; Sun, L.; Pinna, A.; Dutkowski, P.; Wehrle, C. J.; Fairchild, R. L.; Meierhofer, D.; De Jonge, J.; Miller, C.; Hashimoto, K.; Schlegel, A.: Quantifying Flavin mononucleotide: an internationally validated methodological approach for enhanced decision making in organ transplantation. EBioMedicine 116 (2025)