Selected references on familial hypercholesterolemia

The most important REVIEWS AND ORIGINAL PAPERS 
in the English-language literature:
 in alphabetical order.

1. Blacklow S.C., Kim P.S. Protein folding and calcium binding defects arising from familial hypercholesterolemia mutations of the LDL receptor// Nature Structural Biol. – 1996. – Vol.3, N 9. – P.758-762.

2. Brown M.S., Goldstein J.L. A receptor-mediated pathway for cholesterol homeostasis// Science. – 1986. – Vol. 232, N 4746. – P. 34-47.

3. Brown M.S., Goldstein J.L. The SREBP pathway: regulation of cholesterol metabolism by proteolysis of a membrane-bond transcription factor//Cell. – 1997. – Vol. 89. – P. 331-340.

4. Brown M.S., Herz J., Goldstein J.L. Calcium cages, acid baths and recycling receptors // Nature. – 1997. – Vol. 388, N 6643. – P. 629–630.

5. Dedoussis G.V.Z., Schmidt H., Genschel J. LDL-receptor mutations in Europe // Hum. Mutat. – 2004. – Vol. 24. – P. 443 – 459.

6. Fass D., Blacklow S., Kim P.S., Berger J.M. Molecular basis of familial hypercholesterolaemia from structure of LDL receptor module // Nature. – 1997. – Vol. 388, N 6643. – P. 691 – 693.

7. Goldstein J.L., Brown M.S. The LDL receptor and the regulation of cellular cholesterol metabolism// J.Cell.Sci. – 1985. – Suppl. N 3. – P. 131-137.

8. Goldstein J.L., Brown M.S. Regulation of the mevalonate pathway// Nature. – 1990. – Vol. 343. – P.425-30.

9. Goldstein J.L., Brown M.S. Molecular medicine. The cholesterol quartet // Science. – 2001. – Vol. 292. – P. 1310 – 1312.

10. Hobbs H.H., Brown M.S., Goldstein J.L. Molecular genetics of the LDL receptor gene in familial hypercholesterolemia// Human Mutation. – 1992. – Vol.1. - P. 445-466.

11. Horton J.D., Goldstein J.L., Brown M.S. SREBPs: activators of the complete program of cholesterol and fatty acid synthesis in the liver // J. Clin. Invest. – 2002. – Vol. 109, N 9. – P. 1125 – 1131.

12. Rudenko G., Deisenhofer J. The low-density lipoprotein receptor: ligands, debates and lore // Curr. Opin. Struct. Biol. – 2003. – Vol. 13. – P. 683 – 689.

13. Rudenko G., Henry L., Henderson K., Ichtchenko K., Brown M.S., Goldstein J.L., Deisenhofer J. Structure of the LDL receptor extracellular domain at endosomal pH // Science. – 2002. – Vol. 298. – P. 2353 – 2358.

14. Sudhof T.C., Goldstein J.L., Brown M.S., Russell D.W. The LDL receptor gene: a mosaic of exons shared with different proteins// Science. – 1985. – Vol. 85, N 228. – P. 815-822.

15. Varret M., Rabes J.-P., Collod-Beroud G., Junien C., Boileau C., Beroud C. Software and database for the analysis of mutations in the human LDL receptor gene// Nucl. Acids Res. – 1997. – Vol. 25. – P. 172-180.

16. Wilson D.J., Gahan M., Haddad L., Heath K., Whittall R.A., Williams R.R., Humphries S.E., Day I.N.M. A World Wide Web site for low-density lipoprotein receptor gene mutations in familial hypercholesterolemia: sequence-based, tabular, and direct submission data handling // Am. J. Cardiol. – 1998. – Vol. 81. – P. 1509 – 1511.

17. Yamamoto T., Davis C.G., Brown M.S., Schneider W.J., Casey M.L., Goldstein J.L., Russell D.W. The human LDL receptor: a cysteine-rich protein with multiple Alu sequences in its mRNA// Cell - 1984. - Vol. 39. - P. 27-38.

All references:

1. The most important reviews and original papers on FH in the English-language literature: in alphabetical order.
   
2. Reviews on genetics of FH in Russia (in English and Russian)
    
3. Papers on FH genetics in Russia (in English, unless specified): in chronological order.
   
4. Handbooks on dyslipidemia, including FH; literature on FH for non-specialists (in Russian mainly): in alphabetical order.