TANGO2 binds crystallin alpha B and its loss causes desminopathy

Abstract excerpt

Mutations in the TANGO2 gene cause an autosomal recessive disorder characterised by developmental delay, stress-induced episodic rhabdomyolysis, and cardiac arrhythmias along with severe metabolic crises. Although TANGO2 mutations result in a well characterised disease pathology, the function of TANGO2 is still unknown. To investigate the function of TANGO2, we knocked out the TANGO2 gene in human cells and mice....

Topics

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

• Share to Cardiomyopathy and Myosin Studies
• Share to Muscle Physiology and Disorders
• Share to Nuclear Structure and Function