Pathogenic mutations in ATAD3A cause dysregulation of RagC/D-TFEB axis and disrupt lysosomal homeostasis
Matthew B. McDougal, Abigail Sandoval, Mike Kinter…·Wan Hee Yoon
This study shows that pathogenic ATAD3A mutations disrupt the RagC/D-TFEB axis, leading to lysosomal dysfunction and neurodevelopmental defects.