Publications 2026
Betrancourt, A., Cinko, M.T., Varanda, A.B., Arias, M., Uranga-Murillo, I., Pena, N., Kaps, L.M., Chau, L.F., Buratti, B., Bragelmann, J., de Miguel, D., Becker, K., Casper, R., Martin, R., Alcami, A., Ferguson, B.J., Pardo, J., Rieser, E., and Walczak, H. (2026). Lysine-11 ubiquitination drives type-I/III interferon induction by cGAS-STING and Toll-like receptors 3 and 4. Nat Cell Biol 28, 608-621. https://www.ncbi.nlm.nih.gov/pubmed/41792265.
Boschann, F., Kopp, J., Romer, S., Kuchler, O., Lyubenova, H., von Kugelgen, N., Hertstein, E., Hagelstein, L., Becker, C., Becker, K., Brachs, S., Mai, K., Meierhofer, D., Seelow, D., Mundlos, S., Horn, D., Schuelke, M., and Fischer-Zirnsak, B. (2026). A biallelic MRPL42 variant causes a combined oxidative phosphorylation deficiency syndrome revealed by multi-omics. NPJ Genom Med 11. https://www.ncbi.nlm.nih.gov/pubmed/41932932.
Gverdtsiteli, S., Ortiz, S., Brunger, T., Furia, F., Barba, C., Bjorg-Hammer, T., Borggraefe, I., Caraballo, R., Cirak, S., Espeche, A., Fazeli, W., Guerrini, R., Juanes, M., Kassahn, K., Kinali, M., Kramer, J., Kroll, J., Herrero, M.C.M., Oegema, R., Ounap, K., Penuela, O., Platzer, K., Prasad, A.N., Pujol, A., Reinson, K., Represa, A., Roza, E., Valenzuela, G.R., Rodriguez-Palmero, A., Sallevelt, S., Sanchez-Albiusa, M.I., Scheffer, I.E., Smid, C., Stafstrom, C.E., Stattin, E.L., Suarez, J.R., Syrbe, S., Valente, K.D., Wagner, M., Wortmann, S., Gardella, E., Lal, D., Brunklaus, A., and Moller, R.S. (2026). Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain-expressed sodium channelopathies. Epilepsia. https://www.ncbi.nlm.nih.gov/pubmed/41925334.
Juschke, C., Linsel, K., Owczarek-Lipska, M., Brandt, N., Zunken, S., Altmuller, J., Preising, M.N., Kastrati, D., Thiele, H., Thomas, M.G., Nurnberg, P., Lorenz, B., Kellner, U., Brauer, A.U., Korenke, G.C., Gottlob, I., and Neidhardt, J. (2026). CACNB3 defects are associated with infantile idiopathic nystagmus. Brain Commun 8, fcag034. https://www.ncbi.nlm.nih.gov/pubmed/41822111.
Klapproth, H., Huerta Arana, M., Lackmann, J.W., Bopp, L., Hussain, M.S., Aloui, A., Becker, K., von Stebut, E., Klein Geltink, R.I., Tantcheva-Poor, I., and Fabri, M. (2026). Metformin in necrobiotic xanthogranuloma. Br J Dermatol 194, 378-380. https://www.ncbi.nlm.nih.gov/pubmed/40966608.
Kueckelmann, S., Theunissen, S., Meyer Zu Altenschildesche, F., von Ondarza, L., Lackmann, J.W., Franitza, M., Becker, K., Boehm, V., and Gehring, N.H. (2026). SMG1:SMG8:SMG9-complex integrity supports efficient execution of nonsense-mediated mRNA decay. Nucleic Acids Res 54. https://www.ncbi.nlm.nih.gov/pubmed/41830328.
Kurscheidt, K., Theunissen, S., Pasquali, N., Becker, K., Boehm, V., Conti, E., and Gehring, N.H. (2026). Composite SMG5-SMG6 PIN domain formation is essential for NMD. Nature communications 17. https://www.ncbi.nlm.nih.gov/pubmed/41714610.
Vasilevsky, N., Gehrke, S., Mullen, K., Barua, S., Braun, I., Brunger, T., Coughlin, C., 2nd, Ivaniuk, A., Korn, D., Lal, D., Marsh, S., O'Loughlin, E., Olson, D., Shwetar, Y., Sofocleous, C., Vogel-Farley, V., Grabenstatter, H., Haendel, M., Mungall, C., and Toro, S. (2026). Epilepsy disease classification: a community effort to enhance the Mondo Disease Ontology. Database : the journal of biological databases and curation 2026. https://www.ncbi.nlm.nih.gov/pubmed/41697974.