DENND3 p.L708V activating variant is involved in the pathogenesis of hereditary hemochromatosis via the RAB12/TFR2 signaling pathway.

Yanmeng LiAnjian XuQin OuyangWei ZhangChunpan ZhangZhibin ChenDonghu ZhouBei ZhangWeijia DuanXinyan ZhaoXiaoming WangHong YouXiaojuan OuJidong JiaJian Huang

Published in: Hepatology international (2023)

The DENND3 p.L708V activating variant down-regulates hepcidin expression through the DENND3/RAB12/TFR2 axis, which may represent a potential novel pathogenic factor of HH.

Keyphrases

signaling pathway
pi k akt
poor prognosis
induced apoptosis
epithelial mesenchymal transition
human health
cell proliferation
oxidative stress
risk assessment