Epileptic encephalopathy-causing mutations in DNM1 impair synaptic vesicle endocytosis

OBJECTIVE: 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. METHODS: HeLa and COS-7 cells transfected with wild-type and muta...

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Publicat a:Neurol Genet
Autors principals: Dhindsa, Ryan S., Bradrick, Shelton S., Yao, Xiaodi, Heinzen, Erin L., Petrovski, Slave, Krueger, Brian J., Johnson, Michael R., Frankel, Wayne N., Petrou, Steven, Boumil, Rebecca M., Goldstein, David B.
Format: Artigo
Idioma:Inglês
Publicat: Wolters Kluwer 2015
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4821085/
https://ncbi.nlm.nih.gov/pubmed/27066543
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/01.NXG.0000464295.65736.da
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