All Outputs (2)

Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects (2022)
Journal Article
AlAbdi, L., Desbois, M., Rusnac, D., Sulaiman, R. A., Rosenfeld, J. A., Lalani, S., …Alkuraya, F. S. (2023). Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects. Brain, 146(4), https://doi.org/10.1093/brain/awac364

The corpus callosum is a bundle of axon fibres that connects the two hemispheres of the brain. Neurodevelopmental disorders that feature dysgenesis of the corpus callosum as a core phenotype offer a valuable window into pathology derived from abnorma... Read More about Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects.

Ubiquitin ligase activity inhibits Cdk5 to control axon termination (2022)
Journal Article
Desbois, M., J. Opperman, K., Amezquita, J., Gaglio, G., Crawley, O., & Grill, B. (2022). Ubiquitin ligase activity inhibits Cdk5 to control axon termination. PLOS genetics, 18(4), Article e1010152. https://doi.org/10.1371/journal.pgen.1010152

The Cdk5 kinase plays prominent roles in nervous system development, plasticity, behavior and disease. It also has important, non-neuronal functions in cancer, the immune system and insulin secretion. At present, we do not fully understand negative r... Read More about Ubiquitin ligase activity inhibits Cdk5 to control axon termination.