Article
Characterization of endoplasmic reticulum-associated degradation of a protein S mutant identified in a family of quantitative protein S deficiency.
Thrombosis research - 1 Jan 2006
Tsuda Hiroko, Tokunaga Fuminori, Nagamitsu Hiroshi, Koide Takehiko
Abstract excerpt
INTRODUCTION: Misfolded and unassembled glycoproteins are eliminated from the endoplasmic reticulum (ER) lumen by the ER-associated degradation (ERAD). We previously identified a Tyr595Cys (Y595C) mutation of protein S (PS) in a family of a quantitative PS deficiency. The mutation causes intracellular degradation and decreased secretion of the Y595C mutant PS. The aim of the present study was to further...
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