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Reduced ech-6 expression attenuates fat-induced lifespan shortening in C. elegans
Liu, Y. J., Gao, A. W., Smith, R. L., Janssens, G. E., Panneman, D. M., Jongejan, A., van Weeghel, M., Vaz, F. M., Silvestrini, M. J., Lapierre, L. R., MacInnes, A. W. & Houtkooper, R. H., 1 Dec 2022, In: Scientific reports. 12, 1, 3350.Research output: Contribution to journal › Article › Academic › peer-review
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HEATR3 variants impair nuclear import of uL18 (RPL5) and drive Diamond-Blackfan anemia
O'Donohue, M-F., da Costa, L., Lezzerini, M., Unal, S., Joret, C., Bartels, M., Brilstra, E., Scheijde-Vermeulen, M., Wacheul, L., de Keersmaecker, K., Vereecke, S., Labarque, V., Saby, M., Lefevre, S. D., Platon, J., Montel-Lehry, N., Laugero, N., Lacazette, E., van Gassen, K., Houtkooper, R. H., & 8 others , 26 May 2022, In: Blood. 139, 21, p. 3111-3126 16 p.Research output: Contribution to journal › Article › Academic › peer-review
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Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy
Bonora, E., Chakrabarty, S., Kellaris, G., Tsutsumi, M., Bianco, F., Bergamini, C., Ullah, F., Isidori, F., Liparulo, I., Diquigiovanni, C., Masin, L., Rizzardi, N., Cratere, M. G., Boschetti, E., Papa, V., Maresca, A., Cenacchi, G., Casadio, R., Martelli, P., Matera, I., & 47 others , 1 May 2021, In: Brain. 144, 5, p. 1451-1466 16 p.Research output: Contribution to journal › Article › Academic › peer-review
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