<?xml version="1.0" encoding="UTF-8"?><xml><records><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">O’Neill, Adam C</style></author><author><style face="normal" font="default" size="100%">Kyrousi, Christina</style></author><author><style face="normal" font="default" size="100%">Einsiedler, Melanie</style></author><author><style face="normal" font="default" size="100%">Burtscher, Ingo</style></author><author><style face="normal" font="default" size="100%">Drukker, Micha</style></author><author><style face="normal" font="default" size="100%">Markie, David M</style></author><author><style face="normal" font="default" size="100%">Kirk, Edwin P</style></author><author><style face="normal" font="default" size="100%">Götz, Magdalena</style></author><author><style face="normal" font="default" size="100%">Robertson, Stephen P</style></author><author><style face="normal" font="default" size="100%">Cappello, Silvia</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Mob2 insufficiency disrupts neuronal migration in the developing cortex</style></title><secondary-title><style face="normal" font="default" size="100%">Frontiers in Cellular Neuroscience</style></secondary-title></titles><dates><year><style  face="normal" font="default" size="100%">2018</style></year></dates><urls><web-urls><url><style face="normal" font="default" size="100%">https://pubmed.ncbi.nlm.nih.gov/29593499/</style></url></web-urls></urls><publisher><style face="normal" font="default" size="100%">Frontiers Media SA</style></publisher><volume><style face="normal" font="default" size="100%">12</style></volume><pages><style face="normal" font="default" size="100%">57</style></pages><isbn><style face="normal" font="default" size="100%">1662-5102</style></isbn><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">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-&lt;em&gt;MOB2&lt;/em&gt;-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 &lt;em&gt;Mob2&lt;/em&gt; 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.</style></abstract></record></records></xml>