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Article

A C9ORF72 BAC mouse model recapitulates key epigenetic perturbations of ALS/FTD

12 Jun 2017

Abstract excerpt

BACKGROUND: Amyotrophic Lateral Sclerosis (ALS) is a fatal and progressive neurodegenerative disorder with identified genetic causes representing a significant minority of all cases. A GGGGCC hexanucleotide repeat expansion (HRE) mutation within the C9ORF72 gene has recently been identified as the most frequent known cause of ALS. The expansion leads to partial heterochromatinization of the locus, yet mutant RNAs...

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PMID: 28606110
DOI: 10.1186/s13024-017-0185-9

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