Pathogenic mutations in ATAD3A cause dysregulation of RagC/D-TFEB axis and disrupt lysosomal homeostasis
Matthew B. McDougal, Abigail Sandoval, Mike Kinter, Antrix Jain, Sukyeong Lee, Sung Yun Jung, Wan Hee Yoon
This study shows that pathogenic ATAD3A mutations disrupt the RagC/D-TFEB axis, leading to lysosomal dysfunction and neurodevelopmental defects.
bioRxiv · Sep 25, 2026 · PreprintGenetics