The C9ORF72 GGGGCC expansion forms RNA G-quadruplex inclusions and sequesters hnRNP H to disrupt splicing in ALS brains

The C9ORF72 GGGGCC expansion forms RNA G-quadruplex inclusions and sequesters hnRNP H to disrupt splicing in ALS brains

An expanded GGGGCC hexanucleotide in C9ORF72 (C9) is the most frequent known cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). It has been proposed that expanded transcripts adopt G-quadruplex (G-Q) structures and associate with proteins, but whether this occurs and con...

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Bibliographic Details
Main Authors: Erin G Conlon, Lei Lu, Aarti Sharma, Takashi Yamazaki, Timothy Tang, Neil A Shneider, James L Manley
Format: Article
Language:English
Published: eLife Sciences Publications Ltd 2016-09-01
Series:eLife
Subjects:
amyotrophic lateral sclerosis
RNA structure
disease mechanism
Online Access:https://elifesciences.org/articles/17820

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