Ontology highlight
ABSTRACT:
SUBMITTER: Song T
PROVIDER: S-EPMC10705270 | biostudies-literature | 2023 Nov
REPOSITORIES: biostudies-literature
Song Taejeong T McNamara James W JW Baby Akhil A Ma Weikang W Landim-Vieira Maicon M Natesan Sankar S Pinto Jose Renato JR Lorenz John N JN Irving Thomas C TC Sadayappan Sakthivel S
bioRxiv : the preprint server for biology 20231130
Skeletal muscle is the largest organ in the body, responsible for gross movement and metabolic regulation. Recently, variants in the <i>MYBPC1</i> gene have been implicated in a variety of developmental muscle diseases, such as distal arthrogryposis. How <i>MYBPC1</i> variants cause disease is not well understood. Here, through a collection of novel gene-edited mouse models, we define a critical role for slow myosin binding protein-C (sMyBP-C), encoded by <i>MYBPC1</i>, across muscle development ...[more]