Broix, Loïc <br/><br/>
Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia.  [electronic resource] 

 -  Nature genetics  11 2016 
 - 1349-1358 p.  digital 
<br/><br/> Publication Type: Journal Article 
<br/><br/><label>ISSN: </label>1546-1718 
<br/><br/><label>Standard No.: </label>10.1038/ng.3676  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Animals<br/>Cells, Cultured<br/>Endosomal Sorting Complexes Required for Transport--genetics<br/>Female<br/>Humans<br/>Male<br/>Mice<br/>Mutation, Missense<br/>Nedd4 Ubiquitin Protein Ligases<br/>Periventricular Nodular Heterotopia--genetics<br/>Protein Domains--genetics<br/>Proto-Oncogene Proteins c-akt--metabolism<br/>Signal Transduction<br/>TOR Serine-Threonine Kinases--metabolism<br/>Ubiquitin--metabolism<br/>Ubiquitin-Protein Ligases--genetics