Seul Kee Byeon

The paper develops a C. elegans model of SRD5A3-CDG and identifies atorvastatin as a potential repurposed therapy through a high-throughput screen.

This study uses cortical organoids to show that ALG13 loss-of-function causes glycosylation defects, neuronal maturation issues, and network hypoactivity in CDG.

This study shows that loss of MECR causes elevated ceramide levels and impaired iron metabolism, linking mitochondrial fatty acid synthesis to neurodegeneration.

The paper identifies ceramide accumulation, lysosomal expansion, and mitochondrial defects as root causes of INAD/PARK14 and tests therapeutic strategies including drugs and gene therapy.

This study uses single cell multiomic analyses to show DNMT3A mutations in clonal hematopoiesis worsen inflammatory outcomes in COVID-19 by increasing IL32 expression and chromatin accessibility.