Akizu, Naiara

Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome

Guemez-Gamboa, A., Nguyen, L. N., Yang, H., Zaki, M. S., Kara, M., Ben-Omran, T., Akizu, N., Rosti, R. O., Rosti, B., Scott, E., et al. (2015) · Nature Genetics

Barrier Structure and Function StudiesFatty Acid Research and Health

Cited by 225

Spliceosome Malfunction Causes Neurodevelopmental Disorders with Overlapping Features

Li, D., Wang, Q., Bayat, A., Battig, M. R., Zhou, Y., Bosch, D. G. M., van Haaften, G., Granger, L., Petersen, A. K., Pérez-Jurado, L. A., et al. (2024) · Journal of Clinical Investigation

Genetics and Neurodevelopmental DisordersRNA Research and Splicing

Cited by 46

YAP1 and QSER1 are key modulators of embryonic signaling pathways in the mammalian epiblast

Abraham, E., Roule, T., Douglas, A., Megill, E., Pericak, O. M., Howe, J. E., Choya-Foces, C., Garbincius, J. F., Cohen, H. M., Roig-Flórez, P., et al. (2026) · EMBO Reports

Hippo pathway signaling and YAP/TAZDevelopmental Biology and Gene Regulation

Cited by 1

YAP1 and QSER1 are Key Modulators of Embryonic Signaling Pathways in the Mammalian Epiblast

Abraham, E., Roule, T., Douglas, A., Megill, E., Pericak, O. M., Howe, J. E., Choya-Foces, C., Garbincius, J. F., Cohen, H. M., Roig-Flórez, P., et al. (2025) · EMBO Reports

Hippo pathway signaling and YAP/TAZDevelopmental Biology and Gene Regulation

Cited by 1