Research supported by MLC

The MLC supports the work of many research groups across a diverse range of disease areas, including hearing loss, type 2 diabetes, sex determination, neurodegeneration and circadian function, to name a few. Such support can include detailed phenotyping in addition to generation and husbandry of mutant mouse lines.

TDP-43-M323K causes abnormal brain development and progressive cognitive and motor deficits associated with mislocalised and increased levels of TDP-43

Godoy-Corchuelo, J. M., Ali, Z., Brito Armas, J. M., Martins-Bach, A. B., García-Toledo, I., Fernández-Beltrán, L. C., López-Carbonero, J. I., Bascuñana, P., Spring, S., Jimenez-Coca, I., Muñoz de Bustillo Alfaro, R. A., Sánchez-Barrena, M. J., Nair, R. R., Nieman, B. J., Lerch, J. P., Miller, K. L., Ozdinler, H. P., Fisher, E. M. C., Cunningham, T. J., Acevedo-Arozena, A., Corrochano, S.

(2024) , Neurobiol Dis , 193 , 106437



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PKD1L1 Is Involved in Congenital Chylothorax

Whitchurch, J. B., Schneider, S., Hilger, A. C., Köllges, R., Stegmann, J. D., Waffenschmidt, L., Dyer, L., Thiele, H., Dhabhai, B., Dakal, T. C., Müller, A., Norris, D. P., Reutter, H. M.

(2024) , Cells , 13 , 149



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Mutant Tbl1x male mice have a short lifespan and do not breed: unexpected findings

Hu, Y., Codner, G. F., Stewart, M., La Fleur, S. E., van Trotsenburg, P. A., Fliers, E., Hennekam, R. C., Boelen, A.

(2024) , J Mol Endocrinol , 73 , e230116



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Leptin haploinsufficiency exerts sex-dependent partial protection in SOD1(G93A) mice by reducing inflammatory pathways in the adipose tissue

Fernández-Beltrán, L. C., Ali, Z., Larrad-Sanz, A., Lopez-Carbonero, J. I., Godoy-Corchuelo, J. M., Jimenez-Coca, I., Garcia-Toledo, I., Bentley, L., Gomez-Pinedo, U., Matias-Guiu, J. A., Gil-Moreno, M. J., Matias-Guiu, J., Corrochano, S.

(2024) , Sci Rep , 14 , 2671



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TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system

Akula, S. K., Marciano, J. H., Lim, Y., Exposito-Alonso, D., Hylton, N. K., Hwang, G. H., Neil, J. E., Dominado, N., Bunton-Stasyshyn, R. K., Song, J. H. T., Talukdar, M., Schmid, A., Teboul, L., Mo, A., Shin, T., Finander, B., Beck, S. G., Yeh, R. C., Otani, A., Qian, X., DeGennaro, E. M., Alkuraya, F. S., Maddirevula, S., Cascino, G. D., Giannini, C., Burrage, L. C., Rosenfield, J. A., Ketkar, S., Clark, G. D., Bacino, C., Lewis, R. A., Segal, R. A., Bazan, J. F., Smith, K. A., Golden, J. A., Cho, G., Walsh, C. A.

(2023) , Proc Natl Acad Sci U S A , 120 , e2209964120



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