Mutations in Membrin/GOSR2 Reveal Stringent Secretory Pathway Demands of Dendritic Growth and Synaptic Integrity

Mutations in Membrin/GOSR2 Reveal Stringent Secretory Pathway Demands of Dendritic Growth and Synaptic Integrity

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 resu...

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Bibliographic Details
Main Authors: Roman Praschberger, Simon A. Lowe, Nancy T. Malintan, Carlo N.G. Giachello, Nian Patel, Henry Houlden, Dimitri M. Kullmann, Richard A. Baines, Maria M. Usowicz, Shyam S. Krishnakumar, James J.L. Hodge, James E. Rothman, James E.C. Jepson
Format: Article
Language:English
Published: Elsevier 2017-10-01
Series:Cell Reports
Subjects:
Membrin
GOSR2
GS27
progressive myoclonus epilepsy
dendrite growth
synaptic integrity
Online Access:http://www.sciencedirect.com/science/article/pii/S2211124717312652

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