Nature Communications (Sep 2019)
HPD degradation regulated by the TTC36-STK33-PELI1 signaling axis induces tyrosinemia and neurological damage
Abstract
Decreased expression of 4-hydroxyphenylpyruvic acid dioxygenase (HPD) has been linked to tyrosinemia, yet the mechanism underlying the regulation of HPD expression is largely unknown. Here the authors demonstrate that molecular chaperone TTC36, which is highly expressed in liver, is associated with HPD and reduces the binding of protein kinase STK33 to HPD, thereby inhibiting STK33-mediated HPD T382 phosphorylation.