Congenital disorders of glycosylation in hepatology: the example of polycystic liver disease.
摘要：
SEC63ManGlcNAc N-glycans on proteins. Hepatocystin is thereby directly involved in the protein folding process by regulating protein binding to calnexin/calreticulin in the ER. A separate group of genetic diseases affecting protein N-glycosylation in the ER is formed by the congenital disorders of glycosylation (CDG). In distinct subtypes of this autosomal recessive multisystem disease specific liver symptoms have been reported that overlap with PCLD. Recent research revealed novel insights in PCLD disease pathology such as the absence of hepatocystin from cyst epithelia indicating a two-hit model for PCLD cystogenesis. This opens the way to speculate about a recessive mechanism for PCLD pathophysiology and shared molecular pathways between CDG and PCLD. In this review we will discuss the clinical-genetic features of PCLD and CDG as well as their biochemical pathways with the aim to identify novel directions of research into cystogenesis.
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关键词：
PCLD polycystic liver disease SEC63PRKCSHADPKD autosomal dominant polycystic kidney disease ER endoplasmic reticulum BiP binding immunoglobulin protein ERAD endoplasmic reticulum-associated degradation
DOI：
10.1016/j.jhep.2009.12.011
被引量：
年份：
2010
Elsevier
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Elsevier
国家科技图书文献中心
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掌桥科研
万方医学
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