Dysregulation of NRAP degradation by KLHL41 contributes to pathophysiology in Nemaline Myopathy
Caroline Jirka, Jasmine H Pak, Claire A Grosgogeat, Michael Mario Marchetii, Vandana Gupta
This study identifies KLHL41's role in regulating NRAP degradation during skeletal muscle development, showing that its dysfunction contributes to nemaline myopathy pathology.
Human Molecular Genetics · Apr 11, 2019Peer-reviewedGenetics