| Literature DB >> 31904591 |
Stuart G Campbell1, Steven A Niederer2.
Abstract
KBTBD13 is a protein expressed in striated muscle whose precise function is unknown. Work by de Winter et al. in this issue of the JCI provides evidence that KBTBD13 localizes to the sarcomere and can directly bind actin. A mutation in KBTBD13 that is associated with nemaline myopathy alters the protein's effects on actin, apparently increasing thin-filament stiffness and ultimately depressing contractile force and relaxation rate. We discuss here the implications of this new sarcomeric protein, some alternate explanations for the effects of KBTBD13R408C, and the advantages of using computational models to interpret functional data from muscle.Entities:
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Year: 2020 PMID: 31904591 PMCID: PMC6994145 DOI: 10.1172/JCI132954
Source DB: PubMed Journal: J Clin Invest ISSN: 0021-9738 Impact factor: 14.808