@article {34241,
	title = {Mob2 insufficiency disrupts neuronal migration in the developing cortex},
	journal = {Frontiers in Cellular Neuroscience},
	volume = {12},
	year = {2018},
	pages = {57},
	publisher = {Frontiers Media SA},
	abstract = {Disorders of neuronal mispositioning during brain development are phenotypically heterogeneous and their genetic causes remain largely unknown. Here, we report biallelic variants in a Hippo signaling factor-<em>MOB2</em>-in a patient with one such disorder, periventricular nodular heterotopia (PH). Genetic and cellular analysis of both variants confirmed them to be loss-of-function with enhanced sensitivity to transcript degradation via nonsense mediated decay (NMD) or increased protein turnover via the proteasome. Knockdown of <em>Mob2</em> within the developing mouse cortex demonstrated its role in neuronal positioning. Cilia positioning and number within migrating neurons was also impaired with comparable defects detected following a reduction in levels of an upstream modulator of Mob2 function, Dchs1, a previously identified locus associated with PH. Moreover, reduced Mob2 expression increased phosphorylation of Filamin A, an actin cross-linking protein frequently mutated in cases of this disorder. These results reveal a key role for Mob2 in correct neuronal positioning within the developing cortex and outline a new candidate locus for PH development.},
	isbn = {1662-5102},
	url = {https://pubmed.ncbi.nlm.nih.gov/29593499/},
	author = {O{\textquoteright}Neill, Adam C and Kyrousi, Christina and Einsiedler, Melanie and Burtscher, Ingo and Drukker, Micha and Markie, David M and Kirk, Edwin P and G{\"o}tz, Magdalena and Robertson, Stephen P and Cappello, Silvia}
}
