Luk H. Vandenberghe

The paper evaluates a natural AAV capsid liver targeting motif in human hepatocytes using in vivo and in vitro models, showing its role in liver targeting and the impact of PEG on transduction.

This study demonstrates CRISPR-HDR efficiency in postnatal cardiac, skeletal muscle, and muscle stem cells, showing developmental stage-dependent HDR rates and successful correction of a Dmd mutation in mdx mice.

This study shows that gene supplementation with ELP1 in a mouse model of familial dysautonomia rescues retinal structure and function, suggesting it as a potential therapy for FD-associated optic neuropathy.

This study uses AAV2-delivered exon-specific U1 snRNA to correct ELP1 splicing and rescue optic neuropathy in a FD mouse model.

This study creates a humanized pig model of Usher syndrome type 1, showing disrupted photoreceptor architecture and vision loss, and validates gene therapy approaches.

This study characterizes retinal degeneration in a humanized mouse model of familial dysautonomia and shows that the splicing modulator BPN-15477 can correct the ELP1 splicing defect in the retina.

This study demonstrates that AAV-mediated MCOLN1 gene transfer improves motor function and reduces brain pathology in a mouse model of mucolipidosis IV.

The paper designs a compact CRISPR-Cas9 activator suitable for AAV-mediated delivery and validates its transcriptional activation efficacy in multiple cell lines.