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

Research output: Contribution to journalArticlepeer-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 languageEnglish (US)
Pages (from-to)1124-1140.e11
JournalNeuron
Volume107
Issue number6
DOIs
StatePublished - Sep 23 2020

Keywords

  • ALS
  • C9orf72
  • FTD
  • POM121
  • neurodegeneration
  • nuclear pore complex

ASJC Scopus subject areas

  • Neuroscience(all)

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