RNA-targeted therapy corrects neuronal deficits in PACS1 syndrome mice.

ABSTRACT: Neurodevelopmental disorders (NDDs) are frequently associated with dendritic abnormalities in pyramidal neurons that affect arbor complexity, spine density, and synaptic communication ^1,2. The underlying genetic causes are often complex, obscuring the molecular pathways that drive these disorders ³. Next-generation sequencing has identified recurrent de novo missense mutations in a handful of genes associated with NDDs, offering a unique opportunity to decipher the molecular pathways ⁴. One such gene is PACS1, which encodes the multi-functional trafficking protein PACS1 (or PACS-1); a single recurrent de novo missense mutation, c607C>T (PACS1^R203W), causes developmental delay and intellectual disability (ID) ^5,6. T

SUBMITTER: Villar-Pazos S 

PROVIDER: S-EPMC9901029 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature