Article
Rare loss-of-function mutation in complement component C3 provides insight into molecular and pathophysiological determinants of complement activity.
Journal of immunology (Baltimore, Md. : 1950) - 1 Apr 2015
Sfyroera Georgia, Ricklin Daniel, Reis Edimara S, Chen Hui, Wu Emilia L, Kaznessis Yiannis N, Ekdahl Kristina N, Nilsson Bo, Lambris John D
Abstract excerpt
The plasma protein C3 is a central element in the activation and effector functions of the complement system. A hereditary dysfunction of C3 that prevents complement activation via the alternative pathway (AP) was described previously in a Swedish family, but its genetic cause and molecular consequences have remained elusive. In this study, we provide these missing links by pinpointing the dysfunction to a point...
Topics
- Adult
- Amino Acid Substitution
- Complement Activation
- Complement C3
- Complement C3-C5 Convertases
- Complement Pathway, Alternative
- DNA Mutational Analysis
- Exons
- Female
- Humans
- Models, Molecular
- Mutation
- Mutation, Missense