Article

Mutations in Membrin/ <i>GOSR2</i> reveal stringent secretory pathway demands of dendritic growth and synaptic integrity

2017-05-26

Abstract excerpt

Mutations in the Golgi SNARE protein Membrin (encoded by the GOSR2 gene) cause progressive myoclonus epilepsy (PME). Membrin is a ubiquitously important protein mediating ER-to-Golgi membrane fusion, and hence it is unclear how these mutations result in a disorder restricted to the nervous system. Here we use a multi-layered strategy to elucidate the consequences of Membrin mutations from protein to neuron. We sh...

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Literature Corpus work: 96d0fc30-e012-54a2-9b05-3e8e09100927
DOI: 10.1101/142679

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