Encephalopathy-linked UFM1 variants impede neuronal protein translation, development, and function - PubMed
5 hours ago
- #Encephalopathies
- #Neuron
- #UFM1
- Encephalopathy-linked UFM1 variants disrupt neuronal protein translation, development, and function.
- UFMylation deficiencies lead to neurological defects by impairing ER homeostasis.
- UFM1-deficient neurons show ER stress, UPR activation, and reduced protein translation.
- UFM1-R81C variant exhibits distinct responses to ER stress, indicating it's not just a loss-of-function mutation.
- Trazodone, a UPR inhibitor, restores protein translation in UFM1-R81C neurons and increases synapse numbers.
- Study highlights UFMylation's role in neuronal development and suggests potential treatments for UFM1-associated encephalopathies.