Ontology highlight
ABSTRACT:
SUBMITTER: Dhindsa RS
PROVIDER: S-EPMC4821085 | biostudies-other | 2015 Jun
REPOSITORIES: biostudies-other
Dhindsa Ryan S RS Bradrick Shelton S SS Yao Xiaodi X Heinzen Erin L EL Petrovski Slave S Krueger Brian J BJ Johnson Michael R MR Frankel Wayne N WN Petrou Steven S Boumil Rebecca M RM Goldstein David B DB
Neurology. Genetics 20150417 1
<h4>Objective</h4>To elucidate the functional consequences of epileptic encephalopathy-causing de novo mutations in DNM1 (A177P, K206N, G359A), which encodes a large mechanochemical GTPase essential for neuronal synaptic vesicle endocytosis.<h4>Methods</h4>HeLa and COS-7 cells transfected with wild-type and mutant DNM1 constructs were used for transferrin assays, high-content imaging, colocalization studies, Western blotting, and electron microscopy (EM). EM was also conducted on the brain secti ...[more]