ey0017.3-8 | Congenital hypothyroidism | ESPEYB17
Y Morishita
, O Kabil
, KZ Young
, AP Kellogg
, A Chang
, P Arvan
To read the full abstract: J Biol Chem. 2020;295:68766887.In this experimental study, Morishita et al. developed a CRISPR/Cas-9 mediated cell model to investigate the molecular effects of thyroglobulin (TG) accumulation in the endoplasmatic reticulum (ER) of thyrocytes, as is observed in the context of dyshormonogenic CH caused by TG gene mutations. TG accumulation in the ER is a result of TG mutations altering t...