Ontology highlight
ABSTRACT:
SUBMITTER: Morito D
PROVIDER: S-EPMC3963067 | biostudies-literature | 2014 Mar
REPOSITORIES: biostudies-literature
Morito Daisuke D Nishikawa Kouki K Hoseki Jun J Kitamura Akira A Kotani Yuri Y Kiso Kazumi K Kinjo Masataka M Fujiyoshi Yoshinori Y Nagata Kazuhiro K
Scientific reports 20140324
Moyamoya disease is an idiopathic human cerebrovascular disorder that is characterized by progressive stenosis and abnormal collateral vessels. We recently identified mysterin/RNF213 as its first susceptibility gene, which encodes a 591-kDa protein containing enzymatically active P-loop ATPase and ubiquitin ligase domains and is involved in proper vascular development in zebrafish. Here we demonstrate that mysterin further contains two tandem AAA+ ATPase modules and forms huge ring-shaped oligom ...[more]