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C9ORF72 repeat expansion causes vulnerability of motor neurons to Ca2+-permeable AMPA receptor-mediated excitotoxicity

18 Jan 2018

Abstract excerpt

Abstract Mutations in C9ORF72 are the most common cause of familial amyotrophic lateral sclerosis (ALS). Here, through a combination of RNA-Seq and electrophysiological studies on induced pluripotent stem cell (iPSC)-derived motor neurons (MNs), we show that increased expression of GluA1 AMPA receptor (AMPAR) subunit occurs in MNs with C9ORF72 mutations that leads to increased Ca2+-permeable AMPAR expression and...

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PMID: 29367641
DOI: 10.1038/s41467-017-02729-0

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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