Article

Aberrant splicing exonizes <i>C9ORF72</i> repeat expansion in ALS/FTD

2023-11-14

Abstract excerpt

<h4>ABSTRACT</h4> A nucleotide repeat expansion (NRE) in the first annotated intron of the C9ORF72 gene is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). While C9 NRE-containing RNAs can be translated into several toxic dipeptide repeat proteins, how an intronic NRE can assess the translation machinery in the cytoplasm remains unclear. By capturing and seq...

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Literature Corpus work: a21918e5-72ee-5ad2-8b8e-f5338208f808
DOI: 10.1101/2023.11.13.566896

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