Abstract
Background Wilson disease (WD) is a disorder of copper accumulation in liver and brain caused by mutations in the coppertransporting ATPase ATP7B that affects 1 in 5000 live births. Under basal conditions, ATP7B protein localizes to the trans-Golgi network (TGN) but traffics to vesicles in response to high copper. The purpose of the study is to identify genetic, metabolic and regulatory factors that regulate ATP7B function and localization to maintain normal copper homeostasis in cells. The study is divided into three parts, (a) Role of copper in normal protein folding and its ER exit, (b) Role of regulatory phosphorylation of ATP7B in its trafficking from TGN to vesicles (c) Interaction of ATP7B with regulatory proteins in its trafficking route.
Highlights
Wilson disease (WD) is a disorder of copper accumulation in liver and brain caused by mutations in the coppertransporting ATPase ATP7B that affects 1 in 5000 live births
We demonstrate that the polymorphism of ATP7B drastically alters the intracellular properties of ATP7B, while copper reverses the effects
Unlike the wtATP7B, the Arg875 variant is located in the endoplasmic reticulum (ER) and does not deliver copper to the trans-Golgi network (TGN)
Summary
Wilson disease (WD) is a disorder of copper accumulation in liver and brain caused by mutations in the coppertransporting ATPase ATP7B that affects 1 in 5000 live births. ATP7B protein localizes to the trans-Golgi network (TGN) but traffics to vesicles in response to high copper. The purpose of the study is to identify genetic, metabolic and regulatory factors that regulate ATP7B function and localization to maintain normal copper homeostasis in cells. The study is divided into three parts, (a) Role of copper in normal protein folding and its ER exit, (b) Role of regulatory phosphorylation of ATP7B in its trafficking from TGN to vesicles (c) Interaction of ATP7B with regulatory proteins in its trafficking route
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