Structural analysis of APOB variants, p.(Arg3527Gln), p.(Arg1164Thr) and p.(Gln4494del), causing Familial Hypercholesterolaemia provides novel insights into variant pathogenicity-Reference-Cited by-同舟云学术

Structural analysis of APOB variants, p.(Arg3527Gln), p.(Arg1164Thr) and p.(Gln4494del), causing Familial Hypercholesterolaemia provides novel insights into variant pathogenicity

Published:2015-12 Issue:1 Volume:5 Page:
ISSN:2045-2322
Container-title:Scientific Reports
language:en
Short-container-title:Sci Rep

Author:

Fernández-Higuero J. A.,Etxebarria A.,Benito-Vicente A.,Alves A. C.,Arrondo J. L. R.,Ostolaza H.,Bourbon M.,Martin C.

Publisher

Springer Science and Business Media LLC

Subject

Multidisciplinary

Link

http://www.nature.com/articles/srep18184.pdf

Reference43 articles.

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2. Chen, P. F. et al. Primary sequence mapping of human apolipoprotein B-100 epitopes. Comparisons of trypsin accessibility and immunoreactivity and implication for apoB conformation. Eur J Biochem 175, 111–118 (1988).

3. Boren, J. et al. Identification of the low density lipoprotein receptor-binding site in apolipoprotein B100 and the modulation of its binding activity by the carboxyl terminus in familial defective apo-B100. J Clin Invest 101, 1084–1093, doi: 10.1172/JCI1847 (1998).

4. Carmena, R., Duriez, P. & Fruchart, J. C. Atherogenic lipoprotein particles in atherosclerosis. Circulation 109, III2-7, doi: 10.1161/01.CIR.0000131511.50734.44 (2004).

5. Goldstein J. L., H. H. & Brown, M. S. Familial hypercholesterolemia. pp. 2863–2913 (McGraw-Hill, 2001).

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