Aurélie Goyenvalle

The paper shows that neonatal intracerebroventricular delivery of scAAV9-U7-Ex51 provides sustained exon skipping and dystrophin restoration in the brain of mdx52 mice, outperforming systemic or intracerebroventricular ASO delivery.

This study uses spatial transcriptomics to evaluate exon-skipping therapies for DMD in the CNS, showing U7ex51 effectively restores full-length dystrophin isoforms in neurons.

This study shows that improving angiogenesis enhances ASO-based exon-skipping therapy in DMD by increasing ASO delivery and dystrophin expression in mdx mice.

This study evaluates AAV9-U7-mediated exon 51 skipping in mdx52 mice to restore Dp427 and improve behavioral outcomes, finding limited Dp427 restoration and no behavioral improvement.

The paper identifies WDR91 as a promoter of ASO activity in melanoma through a CRISPR screen, highlighting its role in endosomal maturation and ASO efficacy.

This study identifies ENG 5UTR variants altering upstream ORFs that reduce Endoglin levels and links uPAR pathway loci to soluble Endoglin levels through proteogenomics and functional assays.

This paper identifies two novel 5UTR ENG variants in HHT patients that create uAUGs, leading to uoORFs and reduced ENG protein levels and function.