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Concomitant gain and loss of function pathomechanisms in C9ORF72 amyotrophic lateral sclerosis

22 Feb 2021

Abstract excerpt

Intronic hexanucleotide repeat expansions (HREs) in C9ORF72 are the most frequent genetic cause of amyotrophic lateral sclerosis, a devastating, incurable motoneuron (MN) disease. The mechanism by which HREs trigger pathogenesis remains elusive. The discovery of repeat-associated non-ATG (RAN) translation of dipeptide repeat proteins (DPRs) from HREs along with reduced exonic C9ORF72 expression suggests gain of...

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PMID: 33619157
DOI: 10.26508/lsa.202000764

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