Ontology highlight
ABSTRACT:
INSTRUMENT(S): Orbitrap Fusion Lumos, Q Exactive
ORGANISM(S): Mus Musculus (mouse)
SUBMITTER: Antonia Vogel
LAB HEAD: Tim Clausen
PROVIDER: PXD018701 | Pride | 2020-06-24
REPOSITORIES: Pride
eLife 20200623
RNF213 is the major susceptibility factor for Moyamoya disease, a progressive cerebrovascular disorder that often leads to brain stroke in adults and children. Characterization of disease-associated mutations has been complicated by the enormous size of RNF213. Here, we present the cryo-EM structure of mouse RNF213. The structure reveals the intricate fold of the 584 kDa protein, comprising an N-terminal stalk, a dynein-like core with six ATPase units, and a multidomain E3 module. Collaboration ...[more]