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

Author:

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

Funder

Robert Packard Center for ALS Research, Johns Hopkins University

Muscular Dystrophy Association

Amyotrophic Lateral Sclerosis Association

National Institutes of Health

Chan Zuckerberg Initiative

Publisher

Elsevier BV

Subject

General Neuroscience

Reference71 articles.

1. Correction of amyotrophic lateral sclerosis related phenotypes in induced pluripotent stem cell-derived motor neurons carrying a hexanucleotide expansion mutation in C9orf72 by CRISPR/Cas9 genome editing using homology-directed repair;Ababneh;Hum. Mol. Genet.,2020

2. The integral membrane nucleoporin pom121 functionally links nuclear pore complex assembly and nuclear envelope formation;Antonin;Mol. Cell,2005

3. C9orf72-mediated ALS and FTD: multiple pathways to disease;Balendra;Nat. Rev. Neurol.,2018

4. The nuclear pore complex: understanding its function through structural insight;Beck;Nat. Rev. Mol. Cell Biol.,2017

5. CRISPR-Cas9 Screens Identify the RNA Helicase DDX3X as a Repressor of C9ORF72 (GGGGCC)n Repeat-Associated Non-AUG Translation;Cheng;Neuron,2019

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