Protein folding and calcium binding defects arising from familial hypercholesterolemia mutations of the LDL receptor

被引：110

作者：

Blacklow, SC

Kim, PS

机构：

[1] MIT,CAMBRIDGE CTR 9,HOWARD HUGHES MED INST,WHITEHEAD INST BIOMED RES,CAMBRIDGE,MA 02142

[2] MIT,CAMBRIDGE CTR 9,DEPT BIOL,CAMBRIDGE,MA 02142

[3] BRIGHAM & WOMENS HOSP,DEPT PATHOL,BOSTON,MA 02115

来源：

NATURE STRUCTURAL BIOLOGY | 1996年 / 3卷 / 09期

关键词：

D O I：

10.1038/nsb0996-758

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Studies of a critical module in the ligand binding domain of the LDL receptor implicate a protein folding defect, coupled to a deficiency in calcium binding, as a major cause of familial hypercholesterolemia.

引用

页码：758 / 762

页数：5

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