PMID: 20172854

A proprotein convertase subtilisin-like/kexin type 9 (PCSK9) C-terminal domain antibody antigen-binding fragment inhibits PCSK9 internalization and restores low density lipoprotein uptake.

The Journal of biological chemistry
Ni, Yan G YG, Condra, Jon H JH, Orsatti, Laura L, Shen, Xun X, Di Marco, Stefania S, Pandit, Shilpa S, Bottomley, Matthew J MJ, Ruggeri, Lionello L, Cummings, Richard T RT, Cubbon, Rose M RM, Santoro, Joseph C JC, Ehrhardt, Anka A, Lewis, Dale D, Fisher, Timothy S TS, Ha, Sookhee S, Njimoluh, Leila L, Wood, Dana D DD, Hammond, Holly A HA, Wisniewski, Douglas D, Volpari, Cinzia C, Noto, Alessia A, Lo Surdo, Paola P, Hubbard, Brian B, CarfĂ­, Andrea A, Sitlani, Ayesha A
2010-04-23

5 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55524201-T-C PCSK9 c.1384T>C p.S462P Missense 9/12 -
1-55527104-AG-GC PCSK9 c.1738_1739delAGinsGC p.R580A Missense 11/12 -
1-55525300-CG-GC PCSK9 c.1645_1646delCGinsGC p.R549A Missense 10/12 -
1-55525313-A-G PCSK9 c.1658A>G p.H553R Missense 10/12 -
1-55525315-C-G PCSK9 c.1660C>G p.Q554E Missense 10/12 -