Wan Hee Yoon

Pathogenic mutations in ATAD3A cause dysregulation of RagC/D-TFEB axis and disrupt lysosomal homeostasis

This study shows that pathogenic ATAD3A mutations disrupt the RagC/D-TFEB axis, leading to lysosomal dysfunction and neurodevelopmental defects.

Allele-specific antisense oligonucleotide treatment rescues atad3-associated phenotype in zebrafish

This study demonstrates that allele-specific antisense oligonucleotides can rescue ATAD3A-associated developmental defects in zebrafish by reducing mutant transcripts.

Allele-specific correction of ATAD3A pathogenic variants via template-free CRISPR-Cas9 editing and gene conversion

This study corrects a pathogenic ATAD3A variant in iPSCs using CRISPR-Cas9-induced gene conversion without donor templates, showing high efficiency and dependence on HR proteins.

Clonally selected lines after CRISPR/Cas editing are not isogenic

The paper shows that clonally selected CRISPR-edited cell lines acquire many culture-specific mutations, making them non-isogenic, and recommends comparing multiple edited and unedited line mixes.

Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes

The paper identifies and functionally characterizes new ATAD3A variants in neurological disorders using exome sequencing and Drosophila models.