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Encephalopathy-linked UFM1 variants impede neuronal protein translation, development, and function

Abstract Genetic variants that hinder post-translational protein modifications by UFM1, UFMylation, cause encephalopathies. UFMylation regulates endoplasmic reticulum (ER) homeostasis, but how UFMylation deficiencies cause selective neurological defects is unknown. Using murine UFM1-deficient neuron...

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Hoofdauteurs: Catarina Perdigão, Josefa Torres, Helge M Magnussen, Janina Koch, Elena Rudashevskaya, Frederieke Moschref, Maksims Fiosins, Fritz Benseler, Sally Wenger, Tanja Nilsson, Sabine Beuermann, Stefan Bonn, Silvio O Rizzoli, Yogesh Kulathu, Olaf Jahn, Benjamin H Cooper, Mateusz C Ambrozkiewicz, JeongSeop Rhee, Nils Brose, Marilyn Tirard
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Springer Nature 2026-02-01
Reeks:EMBO Molecular Medicine
Onderwerpen:
UFM1
Neuron
Synapse
Unfolded Protein Response
Encephalopathies
Online toegang:https://doi.org/10.1038/s44321-026-00389-6
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