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Heterochromatin anomalies and double-stranded RNA accumulation underlie C9orf72 poly(PR) toxicity

15 Feb 2019

Abstract excerpt

How dipeptide repeats cause pathology A repeat expansion in the chromosome 9 open reading frame 72 ( C9orf72 ) gene is the most common known cause of two neurodegenerative diseases: frontotemporal dementia and amyotrophic lateral sclerosis. This expansion leads to the abnormal production of proteins of repeating dipeptides, but their contribution to disease pathogenesis remains unclear. Zhang et al. engineered a...

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PMID: 30765536
DOI: 10.1126/science.aav2606

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