G4C2 Repeat RNA Initiates a POM121-Mediated Reduction in Specific Nucleoporins in C9orf72 ALS/FTD

Alyssa N. Coyne; Benjamin L. Zaepfel; Lindsey Hayes; Boris Fitchman; Yuval Salzberg; En Ching Luo; Kelly Bowen; Hannah Trost; Stefan Aigner; Frank Rigo; Gene W. Yeo; Amnon Harel; Clive N. Svendsen; Dhruv Sareen; Jeffrey D. Rothstein

doi:10.1016/j.neuron.2020.06.027

G₄C₂ Repeat RNA Initiates a POM121-Mediated Reduction in Specific Nucleoporins in C9orf72 ALS/FTD

Alyssa N. Coyne, Benjamin L. Zaepfel, Lindsey Hayes, Boris Fitchman, Yuval Salzberg, En Ching Luo, Kelly Bowen, Hannah Trost, Stefan Aigner, Frank Rigo, Gene W. Yeo, Amnon Harel, Clive N. Svendsen, Dhruv Sareen, Jeffrey D. Rothstein

Bar-Ilan University - Azrieli Faculty of Medicine

Research output: Contribution to journal › Article › peer-review

Abstract

Coyne et al. demonstrate that G₄C₂ repeat RNA initiates a reduction of POM121 expression within C9orf72 neuronal nuclear pore complexes. Decreased nuclear POM121 affects the expression of seven additional nucleoporins, resulting in altered nuclear pore composition. This combined nucleoporin reduction affects the localization of nucleocytoplasmic transport proteins and neuronal survival.

Original language	English
Pages (from-to)	1124-1140.e11
Journal	Neuron
Volume	107
Issue number	6
DOIs	https://doi.org/10.1016/j.neuron.2020.06.027
State	Published - 23 Sep 2020

Keywords

ALS
C9orf72
FTD
POM121
neurodegeneration
nuclear pore complex

All Science Journal Classification (ASJC) codes

General Neuroscience

Access to Document

10.1016/j.neuron.2020.06.027

Cite this

Coyne, A. N., Zaepfel, B. L., Hayes, L., Fitchman, B., Salzberg, Y., Luo, E. C., Bowen, K., Trost, H., Aigner, S., Rigo, F., Yeo, G. W., Harel, A., Svendsen, C. N., Sareen, D., & Rothstein, J. D. (2020). G₄C₂ Repeat RNA Initiates a POM121-Mediated Reduction in Specific Nucleoporins in C9orf72 ALS/FTD. Neuron, 107(6), 1124-1140.e11. https://doi.org/10.1016/j.neuron.2020.06.027

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abstract = "Coyne et al. demonstrate that G4C2 repeat RNA initiates a reduction of POM121 expression within C9orf72 neuronal nuclear pore complexes. Decreased nuclear POM121 affects the expression of seven additional nucleoporins, resulting in altered nuclear pore composition. This combined nucleoporin reduction affects the localization of nucleocytoplasmic transport proteins and neuronal survival.",

keywords = "ALS, C9orf72, FTD, POM121, neurodegeneration, nuclear pore complex",

author = "Coyne, {Alyssa N.} and Zaepfel, {Benjamin L.} and Lindsey Hayes and Boris Fitchman and Yuval Salzberg and Luo, {En Ching} and Kelly Bowen and Hannah Trost and Stefan Aigner and Frank Rigo and Yeo, {Gene W.} and Amnon Harel and Svendsen, {Clive N.} and Dhruv Sareen and Rothstein, {Jeffrey D.}",

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doi = "10.1016/j.neuron.2020.06.027",

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AU - Coyne, Alyssa N.

AU - Zaepfel, Benjamin L.

AU - Hayes, Lindsey

AU - Fitchman, Boris

AU - Salzberg, Yuval

AU - Luo, En Ching

AU - Bowen, Kelly

AU - Trost, Hannah

AU - Aigner, Stefan

AU - Rigo, Frank

AU - Yeo, Gene W.

AU - Harel, Amnon

AU - Svendsen, Clive N.

AU - Sareen, Dhruv

AU - Rothstein, Jeffrey D.

PY - 2020/9/23

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KW - ALS

KW - C9orf72

KW - FTD

KW - POM121

KW - neurodegeneration

KW - nuclear pore complex

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