A5033093841- Ubiquitin and proteasome pathways
- Moyamoya disease diagnosis and treatment
- RNA modifications and cancer
- PARP inhibition in cancer therapy
- RNA Research and Splicing
- Peptidase Inhibition and Analysis
- Cancer, Hypoxia, and Metabolism
- Cancer-related gene regulation
- Cerebrovascular and genetic disorders
- CRISPR and Genetic Engineering
- Genetics and Neurodevelopmental Disorders
- Connective tissue disorders research
- Integrated Circuits and Semiconductor Failure Analysis
Research Institute of Molecular Pathology
2020-2025
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 enormous size RNF213. Here, we present cryo-EM structure mouse The reveals intricate fold 584 kDa protein, comprising an N-terminal stalk, dynein-like core with six ATPase units, multidomain E3 module. Collaboration UbcH7, cysteine-reactive E2, points unexplored...
RNF213 is a giant E3 ubiquitin ligase and major susceptibility factor of Moyamoya disease, cerebrovascular disorder that can result in stroke or death. In the cell, involved lipid droplet formation, lipotoxicity, hypoxia, NF-κB signaling, but its exact function these processes unclear. Structural characterization has revealed presence dynein-like ATPase module an unprecedented poorly understood module. Here, we demonstrate activity dependent on ATP binding, rather than hydrolysis,...