Pawan Kumar Shahi

This study shows that DHA deficiency causes lipid remodeling and microglial activation in mice, leading to oxidative stress and visual dysfunction, with APOE-dependent lipid disposal and galectin-3 involvement.

This study shows that mitochondrial fusion via MFN1 and MFN2 is essential for developing specialized mitochondrial structures and maintaining energy metabolism in rod photoreceptor cells.

This study demonstrates that engineered tRNA can restore vision in a mouse model of Leber Congenital Amaurosis by suppressing a premature termination codon.

This study evaluates subretinal delivery of Cas9 ribonucleoproteins in mice and pigs, showing variable editing efficiency and highlighting species-specific challenges for therapeutic translation.

This paper demonstrates nonviral base editing of a KCNJ13 mutation in a mouse model of retinal degeneration, preserving vision through functional rescue of Kir7.1 channels.

This study uses iPSC-RPE models to evaluate gene augmentation and editing for Best disease, finding that some mutations respond to gene therapy while others require genome editing.

The paper tests read-through drugs and gene therapy in patient-derived iPSC-RPE cells with a KCNJ13 mutation to restore Kir7.1 channel function and rescue channelopathy in LCA16.