Ontology highlight
ABSTRACT:
SUBMITTER: Chopra A
PROVIDER: S-EPMC6421364 | biostudies-literature | 2018 Jan
REPOSITORIES: biostudies-literature
Chopra Anant A Kutys Matthew L ML Zhang Kehan K Polacheck William J WJ Sheng Calvin C CC Luu Rebeccah J RJ Eyckmans Jeroen J Hinson J Travis JT Seidman Jonathan G JG Seidman Christine E CE Chen Christopher S CS
Developmental cell 20180108 1
Truncating mutations in the sarcomere protein titin cause dilated cardiomyopathy due to sarcomere insufficiency. However, it remains mechanistically unclear how these mutations decrease sarcomere content in cardiomyocytes. Utilizing human induced pluripotent stem cell-derived cardiomyocytes, CRISPR/Cas9, and live microscopy, we characterize the fundamental mechanisms of human cardiac sarcomere formation. We observe that sarcomerogenesis initiates at protocostameres, sites of cell-extracellular m ...[more]