[HTML][HTML] Congenital disorders of glycosylation in hepatology: the example of polycystic liver disease

MJ Janssen, E Waanders, J Woudenberg… - Journal of …, 2010 - Elsevier
Autosomal dominant polycystic liver disease (PCLD) is a rare progressive disorder
characterized by an increased liver volume due to many (> 20) fluid-filled cysts of biliary
origin. Disease causing mutations in PRKCSH or SEC63 are found in∼ 25% of the PCLD
patients. Both gene products function in the endoplasmic reticulum, however, the molecular
mechanism behind cyst formation remains to be elucidated. As part of the translocon
complex, SEC63 plays a role in protein import into the ER and is implicated in the export of …