1407-Pathogenesis of Neurodevelopmental Proteasomopathies
This research identifies PSMC5 as a critical gene responsible for a specific class of neurodevelopmental proteasomopathies. By studying 44 individuals, scientists discovered that mutations in this proteasome subunit lead to syndromic conditions characterized by intellectual disability, impaired motor skills, and distinct facial features. Experimental models using Drosophila and rat neurons reveal that these genetic variants disrupt protein homeostasis, causing toxic cellular accumulation and shifting the balance of brain signaling. Furthermore, the study demonstrates that proteasome…
The skinny
The skinny isn't ready yet — notes appear once the transcript is processed.