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

共 39 条

[21] APOLIPOPROTEIN-E - CHOLESTEROL TRANSPORT PROTEIN WITH EXPANDING ROLE IN CELL BIOLOGY
MAHLEY, RW
[J]. SCIENCE, 1988, 240 (4852) : 622 - 630
[22] RELATIONSHIPS BETWEEN THE GENE AND PROTEIN-STRUCTURE IN HUMAN-COMPLEMENT COMPONENT C9
MARAZZITI, D
EGGERTSEN, G
FEY, GH
STANLEY, KK
[J]. BIOCHEMISTRY, 1988, 27 (17) : 6529 - 6534
[23] MURDOCH AD, 1992, J BIOL CHEM, V267, P8544
[24] A PROTEIN DISSECTION STUDY OF A MOLTEN GLOBULE
PENG, ZY
KIM, PS
[J]. BIOCHEMISTRY, 1994, 33 (08) : 2136 - 2141
[25] THE STRUCTURE OF A CA2+-BINDING EPIDERMAL GROWTH FACTOR-LIKE DOMAIN - ITS ROLE IN PROTEIN-PROTEIN INTERACTIONS
RAO, Z
HANDFORD, P
MAYHEW, M
KNOTT, V
BROWNLEE, GG
STUART, D
[J]. CELL, 1995, 82 (01) : 131 - 141
[26] AUTOIMMUNE TARGET IN HEYMANN NEPHRITIS IS A GLYCOPROTEIN WITH HOMOLOGY TO THE LDL RECEPTOR
RAYCHOWDHURY, R
NILES, JL
MCCLUSKEY, RT
SMITH, JA
[J]. SCIENCE, 1989, 244 (4909) : 1163 - 1165
[27] Sambrook J., 2002, MOL CLONING LAB MANU
[28] Schneider W J, 1983, Mol Biol Med, V1, P353
[29] FORMATION OF A NATIVE-LIKE SUBDOMAIN IN A PARTIALLY FOLDED INTERMEDIATE OF BOVINE PANCREATIC TRYPSIN-INHIBITOR
STALEY, JP
KIM, PS
[J]. PROTEIN SCIENCE, 1994, 3 (10) : 1822 - 1832
[30] STUDIER FW, 1990, METHOD ENZYMOL, V185, P60

← 1 2 3 4 →