Article

C9ORF72 deficiency results in degeneration of the zebrafish retina <i>in vivo</i>

2023-10-21

Abstract excerpt

G4C2 Hexanucleotide repeat expansions within the gene C9ORF72 are the most common cause of the neurodegenerative diseases Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal dementia (FTD). This disease-causing expansion leads to a reduction in C9ORF72 expression levels in patients, suggesting haploinsufficiency could contribute to disease. To further understand the consequences of C9ORF72 deficiency in vivo...

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Literature Corpus work: 36d6fbf9-20cd-5cc4-a70a-ba1224938899
DOI: 10.1101/2023.10.19.563041

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