(Q40564423)

English

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

scientific article published on 20 April 2004

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

21 September 2017

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 (English)

1 reference

Europe PubMed Central

PubMed publication ID

21 September 2017

hypercholesterolemia

0 references

familial hypercholesterolemia

1 reference

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author name string

Emma J Boswell

1

1 reference

Europe PubMed Central

PubMed publication ID

21 September 2017

Hyesung Jeon

2

1 reference

Europe PubMed Central

PubMed publication ID

21 September 2017

Stephen C Blacklow

3

1 reference

Europe PubMed Central

PubMed publication ID

21 September 2017

A Kristina Downing

4

1 reference

Europe PubMed Central

PubMed publication ID

21 September 2017

language of work or name

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publication date

20 April 2004

1 reference

Europe PubMed Central

PubMed publication ID

21 September 2017

Journal of Biological Chemistry

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Europe PubMed Central

PubMed publication ID

21 September 2017

279

1 reference

Europe PubMed Central

PubMed publication ID

21 September 2017

29

1 reference

Europe PubMed Central

PubMed publication ID

21 September 2017

30611-30621

1 reference

Europe PubMed Central

PubMed publication ID

21 September 2017

A receptor-mediated pathway for cholesterol homeostasis

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M401412200

21 January 2018

The UMD-LDLR database: additions to the software and 490 new entries to the database.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M401412200

21 January 2018

Molecular genetics of the LDL receptor gene in familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M401412200

21 January 2018

Molecular basis of familial hypercholesterolaemia from structure of LDL receptor module

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M401412200

21 January 2018

Solution structure of the sixth LDL-A module of the LDL receptor

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M401412200

21 January 2018

Implications for familial hypercholesterolemia from the structure of the LDL receptor YWTD-EGF domain pair

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M401412200

21 January 2018

NMR structure of a concatemer of the first and second ligand-binding modules of the human low-density lipoprotein receptor

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M401412200

21 January 2018

Structure of the LDL receptor extracellular domain at endosomal pH

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M401412200

21 January 2018

LDL-receptor structure. Calcium cages, acid baths and recycling receptors.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M401412200

21 January 2018

Acid-dependent ligand dissociation and recycling of LDL receptor mediated by growth factor homology region

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M401412200

21 January 2018

Deficiency of low density lipoprotein receptors in liver and adrenal gland of the WHHL rabbit, an animal model of familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M401412200

21 January 2018

Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M401412200

21 January 2018

The molecular genetics of Marfan syndrome and related microfibrillopathies

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M401412200

21 January 2018

The first epidermal growth factor-like domain of the low-density lipoprotein receptor contains a noncanonical calcium binding site

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M401412200

21 January 2018

Receptor-mediated endocytosis of low density lipoprotein: somatic cell mutants define multiple genes required for expression of surface-receptor activity

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M401412200

21 January 2018

Site-directed mutagenesis by overlap extension using the polymerase chain reaction

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M401412200

21 January 2018

Engineering hybrid genes without the use of restriction enzymes: gene splicing by overlap extension

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M401412200

21 January 2018

Calculation of protein extinction coefficients from amino acid sequence data

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M401412200

21 January 2018

Electrostatic contributions to the binding of Ca2+ in calbindin D9k.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M401412200

21 January 2018

Mutation analysis in a small cohort of New Zealand patients originating from the United Kingdom demonstrates genetic heterogeneity in familial hypercholesterolemia.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M401412200

21 January 2018

Diseases of protein conformation: what do in vitro experiments tell us about in vivo diseases?

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M401412200

21 January 2018

Protein misfolding and degradation in genetic diseases.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M401412200

21 January 2018

Quality control in the endoplasmic reticulum protein factory

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M401412200

21 January 2018

Expression and characterization of a truncated, soluble, low-density lipoprotein receptor

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M401412200

21 January 2018

Coordinated nonvectorial folding in a newly synthesized multidomain protein

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M401412200

21 January 2018

Influence of specific mutations at the LDL-receptor gene locus on the response to simvastatin therapy in Afrikaner patients with heterozygous familial hypercholesterolaemia

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M401412200

21 January 2018

Receptor-associated protein facilitates proper folding and maturation of the low-density lipoprotein receptor and its class 2 mutants

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M401412200

21 January 2018

Coaxing the LDL receptor family into the fold.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M401412200

21 January 2018

A Gly --> Ser change causes defective folding in vitro of calcium-binding epidermal growth factor-like domains from factor IX and fibrillin-1.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M401412200

21 January 2018

Measurement of Ca2+-Binding Constants of Proteins and Presentation of the CaLigator Software

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M401412200

21 January 2018

Identifiers

10.1074/JBC.M401412200

1 reference

Europe PubMed Central

PubMed publication ID

21 September 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

21 September 2017

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