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From Cryptic Toward Canonical Pre-mRNA Splicing in Pompe Disease: a Pipeline for the Development of Antisense Oligonucleotides
This study addresses the challenges of aberrant pre-mRNA splicing in Pompe disease, caused by pathogenic variants in the acid α-glucosidase (GAA) gene. These variants often lead to the use of cryptic splice sites, resulting in disrupted protein production. The research proposes a pipeline to identify these splicing defects and correct them using antisense oligonucleotides (AONs). The team developed a splicing assay to detect aberrant splicing patterns in patient-derived fibroblasts. …
