Global Defects in the Expression and Function of the Low Density Lipoprotein Receptor (LDLR) Associated with Two Familial Hypercholesterolemia Mutations Resulting in Misfolding of the LDLR Epidermal Growth Factor-AB Pair

Emma J. Boswell; Hyesung Jeon; Stephen C. Blacklow; A. Kristina Downing

doi:10.1074/jbc.m401412200

Global Defects in the Expression and Function of the Low Density Lipoprotein Receptor (LDLR) Associated with Two Familial Hypercholesterolemia Mutations Resulting in Misfolding of the LDLR Epidermal Growth Factor-AB Pair

Journal of Biological Chemistry ◽

10.1074/jbc.m401412200 ◽

2004 ◽

Vol 279 (29) ◽

pp. 30611-30621 ◽

Cited By ~ 18

Author(s):

Emma J. Boswell ◽

Hyesung Jeon ◽

Stephen C. Blacklow ◽

A. Kristina Downing

Keyword(s):

Growth Factor ◽

Epidermal Growth Factor ◽

Familial Hypercholesterolemia ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Density Lipoprotein Receptor ◽

Epidermal Growth ◽

And Function

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The First Epidermal Growth Factor-like Domain of the Low-Density Lipoprotein Receptor Contains a Noncanonical Calcium Binding Site†

Biochemistry ◽

10.1021/bi002322l ◽

2001 ◽

Vol 40 (8) ◽

pp. 2555-2563 ◽

Cited By ~ 24

Author(s):

Steven Malby ◽

Ruth Pickering ◽

Saurabh Saha ◽

Rachel Smallridge ◽

Sara Linse ◽

...

Keyword(s):

Growth Factor ◽

Epidermal Growth Factor ◽

Calcium Binding ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Calcium Binding Site ◽

Density Lipoprotein Receptor ◽

Epidermal Growth

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NMR structure and backbone dynamics of a concatemer of epidermal growth factor homology modules of the human low-density lipoprotein receptor

Journal of Molecular Biology ◽

10.1006/jmbi.2001.4867 ◽

2001 ◽

Vol 311 (2) ◽

pp. 341-356 ◽

Cited By ~ 24

Author(s):

Nyoman D. Kurniawan ◽

Khosrow Aliabadizadeh ◽

Ian M. Brereton ◽

Paulus A. Kroon ◽

Ross Smith

Keyword(s):

Growth Factor ◽

Epidermal Growth Factor ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Backbone Dynamics ◽

Low Density ◽

Lipoprotein Receptor ◽

Low Density Lipoprotein Receptor ◽

Density Lipoprotein Receptor ◽

Epidermal Growth

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Binding of Proprotein Convertase Subtilisin/Kexin Type 9 to Epidermal Growth Factor-like Repeat A of Low Density Lipoprotein Receptor Decreases Receptor Recycling and Increases Degradation

Journal of Biological Chemistry ◽

10.1074/jbc.m702027200 ◽

2007 ◽

Vol 282 (25) ◽

pp. 18602-18612 ◽

Cited By ~ 462

Author(s):

Da-Wei Zhang ◽

Thomas A. Lagace ◽

Rita Garuti ◽

Zhenze Zhao ◽

Meghan McDonald ◽

...

Keyword(s):

Growth Factor ◽

Epidermal Growth Factor ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Receptor Recycling ◽

Proprotein Convertase ◽

Density Lipoprotein Receptor ◽

Epidermal Growth

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Faculty Opinions recommendation of NMR structure and backbone dynamics of a concatemer of epidermal growth factor homology modules of the human low-density lipoprotein receptor.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.1001249.10156 ◽

2001 ◽

Author(s):

Kristina Downing

Keyword(s):

Growth Factor ◽

Epidermal Growth Factor ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Backbone Dynamics ◽

Low Density ◽

Lipoprotein Receptor ◽

Low Density Lipoprotein Receptor ◽

Density Lipoprotein Receptor ◽

Epidermal Growth

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Epidermal Growth Factor and Platelet-derived Growth Factor-BB Induce a Stable Increase in the Activity of Low Density Lipoprotein Receptor-related Protein in Vascular Smooth Muscle Cells by Altering Receptor Distribution and Recycling

Journal of Biological Chemistry ◽

10.1074/jbc.271.40.24894 ◽

1996 ◽

Vol 271 (40) ◽

pp. 24894-24900 ◽

Cited By ~ 34

Author(s):

Alissa M. Weaver ◽

Megan McCabe ◽

Ian Kim ◽

Margaretta M. Allietta ◽

Steven L. Gonias

Keyword(s):

Growth Factor ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Platelet Derived Growth Factor ◽

Low Density ◽

Lipoprotein Receptor ◽

Related Protein ◽

Density Lipoprotein Receptor ◽

Epidermal Growth ◽

Lipoprotein Receptor Related Protein

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Differential effects of brefeldin A on sialylation of N- and O-linked oligosaccharides in low density lipoprotein receptor and epidermal growth factor receptor.

Journal of Biological Chemistry ◽

10.1016/s0021-9258(18)38168-7 ◽

1990 ◽

Vol 265 (29) ◽

pp. 17385-17388 ◽

Cited By ~ 5

Author(s):

S Shite ◽

T Seguchi ◽

H Mizoguchi ◽

M Ono ◽

M Kuwano

Keyword(s):

Epidermal Growth Factor Receptor ◽

Growth Factor ◽

Low Density Lipoprotein ◽

Growth Factor Receptor ◽

Density Lipoprotein ◽

Brefeldin A ◽

Low Density ◽

Lipoprotein Receptor ◽

Density Lipoprotein Receptor ◽

Epidermal Growth

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Deletion of the Growth Factor Homology Domain of the Low Density Lipoprotein Receptor in Familial Hypercholesterolemia

Annals of the New York Academy of Sciences ◽

10.1111/j.1749-6632.1990.tb42322.x ◽

1990 ◽

Vol 598 (1 Atheroscleros) ◽

pp. 498-499

Author(s):

TOHRU FUNAHASHI ◽

YASUKO MIYAKE ◽

SHOJI TAJIMA ◽

AKIRA YAMAMOTO

Keyword(s):

Growth Factor ◽

Familial Hypercholesterolemia ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Low Density Lipoprotein Receptor ◽

Density Lipoprotein Receptor

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Corrigendum to “FH-Freiburg: a novel missense mutation (C317Y) in growth factor repeat A of the low density lipoprotein receptor gene in a German patient with homozygous familial hypercholesterolemia” [Atherosclerosis 151 (2000) 525–534]

Atherosclerosis ◽

10.1016/s0021-9150(02)00186-7 ◽

2003 ◽

Vol 167 (1) ◽

pp. 173

Author(s):

Markus S. Nauck ◽

Hubert Scharnagl ◽

Henrik Nissen ◽

Christine Schürmann ◽

Dietrich Matern ◽

...

Keyword(s):

Growth Factor ◽

Familial Hypercholesterolemia ◽

Missense Mutation ◽

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Homozygous Familial Hypercholesterolemia ◽

Density Lipoprotein Receptor

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FH-Freiburg: a novel missense mutation (C317Y) in growth factor repeat A of the low density lipoprotein receptor gene in a German patient with homozygous familial hypercholesterolemia

Atherosclerosis ◽

10.1016/s0021-9150(99)00415-3 ◽

2000 ◽

Vol 151 (2) ◽

pp. 525-534 ◽

Cited By ~ 4

Author(s):

Markus S. Nauck ◽

Hubert Scharnagl ◽

Henrik Nissen ◽

Christine Schürmann ◽

Dirk Mattern ◽

...

Keyword(s):

Growth Factor ◽

Familial Hypercholesterolemia ◽

Missense Mutation ◽

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Homozygous Familial Hypercholesterolemia ◽

Density Lipoprotein Receptor

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Homozygous familial hypercholesterolemia in a young woman with dual gene mutations of low-density lipoprotein receptor and proprotein convertase subtilisin/kexin type 9

Journal of Clinical Lipidology ◽

10.1016/j.jacl.2020.01.009 ◽

2020 ◽

Vol 14 (2) ◽

pp. 192-196

Author(s):

Patrizia Suppressa ◽

Concetta Carbonara ◽

Natasha Scialpi ◽

Alessandro Ciavarella ◽

Carlo Sabbà

Keyword(s):

Familial Hypercholesterolemia ◽

Young Woman ◽

Low Density Lipoprotein ◽

Gene Mutations ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Homozygous Familial Hypercholesterolemia ◽

Proprotein Convertase ◽

Density Lipoprotein Receptor

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