Pharmaco-genetic evidence of presymptomatic lysosomal dysfunction coupled to detrimental DPR secretion in Drosophila Models of C9orf72-linked ALS/FTD.
Hexanucleotide repeat expansions in C9orf72, the most common genetic cause of Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), drive neurodegeneration through both loss of gene function and toxic gain-of-function mechanisms, including transcription of repeat RNA and repeat-associated non-AUG (RAN) translation into dipeptide repeat proteins (DPRs). Both disease mechanisms…
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