Molecular characterization of loss-of-function mutations in PCSK9 and identification of a compound heterozygote.

By Zhenze Zhao, Y. Tuakli‐Wosornu, Thomas A. Lagace, Lisa N. Kinch, Nick V. Grishin, Jay D. Horton, Jonathan C. Cohen, Helen H. Hobbs. American Journal of Human Genetics, 2006

659 citations recorded by the source corpus.

Subfields: Computational Theory and Mathematics, Molecular Biology, Surgery

View Paper: https://www.semanticscholar.org/paper/5d463f2dec2f6f000adf613629e3e90af2df19a2

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

In Molecular Biology

1. Robert Langer
2. Daniel G. Anderson
3. Helen H. Hobbs
4. Jonathan C. Cohen
5. M. Manoharan
6. Jay D. Horton
7. O. Farokhzad

In Surgery

1. Jonathan C. Cohen
2. Jay D. Horton
3. Helen H. Hobbs
4. M. Manoharan
5. Robert Langer
6. J. Goldstein
7. Michael S. Brown
8. V. Mohanraj

Citations in the corpus

• Therapeutic RNAi targeting PCSK9 acutely lowers plasma cholesterol in rodents and LDL cholesterol in nonhuman primates (2008, background): “Furthermore, human compound heterozygous PCSK9-null individuals have been identified with very low LDLc ( 20 mg/dl), but with otherwise normal health (24).”
• Molecular biology of PCSK9: its role in LDL metabolism. (2007, background): “Another gain-of-function mutation (F216L) is predicted to reside very close to D374Y on the outer surface of the catalytic domain [24] and might also be a Class 5 mutation.”