The most frequent genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) may stem from errors in RNA splicing, an intermediary and critical step for translating genetic instructions into functional proteins. In a recent study published in Cell Reports on June 13, the Reed lab shows that toxic peptides produced by mutation of the C9ORF72 gene can prevent accurate assembly of the spliceosome—the molecular machine responsible for RNA splicing.
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