Macrophages of genetically characterized familial hypercholesterolaemia patients show up-regulation of LDL-receptor-related proteins

Author:

Escate Rafael1,Padro Teresa1,Borrell-Pages Maria1,Suades Rosa1,Aledo Rosa1,Mata Pedro2,Badimon Lina13

Affiliation:

1. Cardiovascular Research Center (CSIC-ICCC); IIB-Sant Pau; Barcelona Spain

2. Foundation Jimenez Diaz; Madrid Spain

3. Cardiovascular Research Chair; UAB; Barcelona Spain

Funder

Ministerio de Economía y Competitividad

Instituto de Salud Carlos III

Red de Investigación Cardiovascular

Sociedad Española de Cardiología

Federación Española de Enfermedades Raras

Investigacion Cardiovascular Foundation

Publisher

Wiley

Subject

Cell Biology,Molecular Medicine

Reference82 articles.

1. Expression of the familial hypercholesterolemia gene in heterozygotes: mechanism for a dominant disorder in man;Brown;Science,1974

2. Binding and degradation of low density lipoproteins by cultured human fibroblasts. Comparison of cells from a normal subject and from a patient with homozygous familial hypercholesterolemia;Goldstein;J Biol Chem,1974

3. A DNA microarray for the detection of point mutations and copy number variation causing familial hypercholesterolemia in Europe;Stef;J Mol Diagn,2013

4. Mechanisms of disease: genetic causes of familial hypercholesterolemia;Soutar;Nat Clin Pract Cardiovasc Med,2007

5. Posttranslational processing of the LDL receptor and its genetic disruption in familial hypercholesterolemia;Tolleshaug;Cell,1982

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