Article
Structural basis of K63-ubiquitin chain formation by the Gordon-Holmes syndrome RBR E3 ubiquitin ligase RNF216.
Molecular cell - 3 Feb 2022
Cotton Thomas R, Cobbold Simon A, Bernardini Jonathan P, Richardson Lachlan W, Wang Xiangyi S, Lechtenberg Bernhard C
Abstract excerpt
An increasing number of genetic diseases are linked to deregulation of E3 ubiquitin ligases. Loss-of-function mutations in the RING-between-RING (RBR) family E3 ligase RNF216 (TRIAD3) cause Gordon-Holmes syndrome (GHS) and related neurodegenerative diseases. Functionally, RNF216 assembles K63-linked ubiquitin chains and has been implicated in regulation of innate immunity signaling pathways and synaptic...
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