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Nature
Article
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Nature
Article . 2015 . Peer-reviewed
License: Springer TDM
Data sources: Crossref
Nature
Article . 2015
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The C9orf72 repeat expansion disrupts nucleocytoplasmic transport

Authors: Ke, Zhang; Christopher J, Donnelly; Aaron R, Haeusler; Jonathan C, Grima; James B, Machamer; Peter, Steinwald; Elizabeth L, Daley; +14 Authors

The C9orf72 repeat expansion disrupts nucleocytoplasmic transport

Abstract

The hexanucleotide repeat expansion (HRE) GGGGCC (G4C2) in C9orf72 is the most common cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Recent studies support an HRE RNA gain-of-function mechanism of neurotoxicity, and we previously identified protein interactors for the G4C2 RNA including RanGAP1. A candidate-based genetic screen in Drosophila expressing 30 G4C2 repeats identified RanGAP (Drosophila orthologue of human RanGAP1), a key regulator of nucleocytoplasmic transport, as a potent suppressor of neurodegeneration. Enhancing nuclear import or suppressing nuclear export of proteins also suppresses neurodegeneration. RanGAP physically interacts with HRE RNA and is mislocalized in HRE-expressing flies, neurons from C9orf72 ALS patient-derived induced pluripotent stem cells (iPSC-derived neurons), and in C9orf72 ALS patient brain tissue. Nuclear import is impaired as a result of HRE expression in the fly model and in C9orf72 iPSC-derived neurons, and these deficits are rescued by small molecules and antisense oligonucleotides targeting the HRE G-quadruplexes. Nucleocytoplasmic transport defects may be a fundamental pathway for ALS and FTD that is amenable to pharmacotherapeutic intervention.

Related Organizations
Keywords

Cell Nucleus, Neurons, DNA Repeat Expansion, C9orf72 Protein, Amyotrophic Lateral Sclerosis, GTPase-Activating Proteins, Induced Pluripotent Stem Cells, Active Transport, Cell Nucleus, Brain, Nuclear Proteins, Oligonucleotides, Antisense, G-Quadruplexes, Open Reading Frames, Drosophila melanogaster, Frontotemporal Dementia, Nuclear Pore, Animals, Drosophila Proteins, Humans, Female

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citations
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
904
Top 0.1%
Top 1%
Top 0.1%
bronze