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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cell Press 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5640804/
https://www.ncbi.nlm.nih.gov/pubmed/28978487
http://dx.doi.org/10.1016/j.celrep.2017.09.004

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5640804/
https://www.ncbi.nlm.nih.gov/pubmed/28978487
http://dx.doi.org/10.1016/j.celrep.2017.09.004

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