Miguel Weil

This paper shows that GSD1a patient fibroblasts retain a reversible disease phenotype in vitro, driven by epigenetic and transcriptional changes, and that a drug can reverse these effects.

This study demonstrates that 144DG11 improves survival and motor function in APBD mouse models by promoting autophagic glycogen catabolism through LAMP1 interaction.

This study shows that ATAT1-enriched vesicles are transported along axons to acetylate -tubulin, essential for proper vesicular transport.