Improved transcription and translation with L-leucine stimulation of mTORC1 in Roberts syndrome.

Abstract excerpt

BACKGROUND: Roberts syndrome (RBS) is a human developmental disorder caused by mutations in the cohesin acetyltransferase ESCO2. We previously reported that mTORC1 signaling was depressed and overall translation was reduced in RBS cells and zebrafish models for RBS. Treatment of RBS cells and zebrafish RBS models with L-leucine partially rescued mTOR function and protein synthesis, correlating with increased cell...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Acetyltransferases
• Share to Chromosomal Proteins, Non-Histone