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C9ORF72: What It Is, What It Does, and Why It Matters

5 May 2021

Abstract excerpt

gene was discovered to be the most frequent cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) in 2011, this gene and its derived protein, C9ORF72, were completely unknown. The mutation appeared to produce both haploinsufficiency and gain-of-function effects in the form of aggregating expanded RNAs and dipeptide repeat proteins (DPRs). An unprecedented effort was then unleashed to...

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PMID: 34025358
DOI: 10.3389/fncel.2021.661447

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