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

School of Medicine

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

10 Scopus citations

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 (US)
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 - Sep 23 2020

Keywords

ALS
C9orf72
FTD
POM121
neurodegeneration
nuclear pore complex

ASJC Scopus subject areas

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

@article{0364caf9fb144a1980dbdbb71a4f5f6f,

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

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.}",

note = "Publisher Copyright: {\textcopyright} 2020 Elsevier Inc.",

year = "2020",

month = sep,

day = "23",

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

language = "English (US)",

volume = "107",

pages = "1124--1140.e11",

journal = "Neuron",

issn = "0896-6273",

publisher = "Cell Press",

number = "6",

}

TY - JOUR

T1 - G4C2 Repeat RNA Initiates a POM121-Mediated Reduction in Specific Nucleoporins in C9orf72 ALS/FTD

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

Y1 - 2020/9/23

N2 - 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.

AB - 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.

KW - ALS

KW - C9orf72

KW - FTD

KW - POM121

KW - neurodegeneration

KW - nuclear pore complex

UR - http://www.scopus.com/inward/record.url?scp=85089108432&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85089108432&partnerID=8YFLogxK

U2 - 10.1016/j.neuron.2020.06.027

DO - 10.1016/j.neuron.2020.06.027

M3 - Article

C2 - 32673563

AN - SCOPUS:85089108432

SN - 0896-6273

VL - 107

SP - 1124-1140.e11

JO - Neuron

JF - Neuron

IS - 6

ER -