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, the HERC2 gene is commonly deleted in individuals with Angelman syndrome, suggesting a potential contribution of HERC2 to the pathophysiology of this disease. Given the known critical role of autophagy in brain development and its implication in neurodevelopmental diseases, we undertook different experimental approaches to monitor autophagy in fibroblasts derived from individuals affected by the HERC2-related disorder. Our findings reveal alterations in

SUBMITTER: Sala-Gaston J 

PROVIDER: S-EPMC10991529 | biostudies-literature | 2024 Apr

REPOSITORIES: biostudies-literature