Autophagy dysregulation via the USP20-ULK1 axis in the HERC2-related neurodevelopmental disorder
Abstract Sequence variants in the HERC2 gene are associated with a significant reduction in HERC2 protein levels and cause a neurodevelopmental disorder known as the HERC2-related disorder, which shares clinical features with Angelman syndrome, including global developmental delay, intellectual disability, autism, and movement disorders.Remarkably,