Article
Mutations in Membrin/GOSR2 Reveal Stringent Secretory Pathway Demands of Dendritic Growth and Synaptic Integrity.
Cell reports - 3 Oct 2017
Praschberger Roman, Lowe Simon A, Malintan Nancy T, Giachello Carlo N G, Patel Nian, Houlden Henry, Kullmann Dimitri M, Baines Richard A, Usowicz Maria M, Krishnakumar Shyam S, Hodge James J L, Rothman James E, Jepson James E C
Abstract excerpt
Mutations in the Golgi SNARE (SNAP [soluble NSF attachment protein] receptor) protein Membrin (encoded by the GOSR2 gene) cause progressive myoclonus epilepsy (PME). Membrin is a ubiquitous and essential protein mediating ER-to-Golgi membrane fusion. Thus, it is unclear how mutations in Membrin result in a disorder restricted to the nervous system. Here, we use a multi-layered strategy to elucidate the...
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