Article
Mutation in a highly conserved glycine residue in strand 5B of plasminogen activator inhibitor 1 causes polymerisation.
Thrombosis and haemostasis - 3 May 2017
Iwaki Takayuki, Nagahashi Kotomi, Takano Katsuhiro, Suzuki-Inoue Katsue, Kanayama Naohiro, Umemura Kazuo, Urano Tetsumei
Abstract excerpt
Serpinopathy is characterised as abnormal accumulation of serine protease inhibitors (SERPINs) in cells and results in clinical symptoms owing to lack of SERPIN function or excessive accumulation of abnormal SERPIN. We recently identified a patient with functional deficiency of plasminogen activator inhibitor-1 (PAI-1), a member of the SERPIN superfamily. The patient exhibited life-threatening bleeding...
Topics
- Aged
- Amino Acid Substitution
- Animals
- Arginine
- COS Cells
- Chlorocebus aethiops
- Conserved Sequence
- Cytosine
- DNA Mutational Analysis
- Exons
- Female
- Genetic Predisposition to Disease
- Glycine
- Guanine