Article
Skraban-Deardorff intellectual disability syndrome-associated mutations in WDR26 impair CTLH E3 complex assembly.
FEBS letters - 1 May 2024
Gross Annette, Müller Judith, Chrustowicz Jakub, Strasser Alexander, Gottemukkala Karthik V, Sherpa Dawafuti, Schulman Brenda A, Murray Peter J, Alpi Arno F
Abstract excerpt
Patients with Skraban-Deardorff syndrome (SKDEAS), a neurodevelopmental syndrome associated with a spectrum of developmental and intellectual delays and disabilities, harbor diverse mutations in WDR26, encoding a subunit of the multiprotein CTLH E3 ubiquitin ligase complex. Structural studies revealed that homodimers of WDR26 bridge two core-CTLH E3 complexes to generate giant, hollow oval-shaped supramolecular...
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