Raquel L. Lieberman

GOLF predicts the pathogenicity of myocilin OLF domain variants using generative AI and interpretable models, achieving accurate classification of known pathogenic and benign variants.

This paper introduces a luminescence assay to detect myocilin secretion defects in trabecular meshwork cells and confirms secretion issues for several mutant variants.

This study investigates the structural and cellular behavior of the A427T myocilin mutant, showing structural similarity to wild-type but inefficient degradation, which contributes to glaucoma pathogenesis.

The paper identifies the sequence S331-G-S-L334 within the amyloid core of myocilin fibrils using low-resolution 3D solid-state NMR.

This study shows that progranulin deficiency reduces glucocerebrosidase activity, linking it to lysosomal dysfunction in neurodegenerative diseases.