Ontology highlight
ABSTRACT:
SUBMITTER: Purbasha Nandi
PROVIDER: EMPIAR-10920 | biostudies-other |
REPOSITORIES: biostudies-other
Nandi Purbasha P Li Shan S Columbres Rod Carlo A RCA Wang Feng F Williams Dewight R DR Poh Yu-Ping YP Chou Tsui-Fen TF Chiu Po-Lin PL
International journal of molecular sciences 20210728 15
IBMPFD/ALS is a genetic disorder caused by a single amino acid mutation on the p97 ATPase, promoting ATPase activity and cofactor dysregulation. The disease mechanism underlying p97 ATPase malfunction remains unclear. To understand how the mutation alters the ATPase regulation, we assembled a full-length p97<sup>R155H</sup> with its p47 cofactor and first visualized their structures using single-particle cryo-EM. More than one-third of the population was the dodecameric form. Nucleotide presence ...[more]