Article
Functional characterization of the protein C A267T mutation: evidence for impaired secretion due to defective intracellular transport.
BMC cell biology - 6 Sept 2010
Tjeldhorn Lena, Iversen Nina, Sandvig Kirsten, Bergan Jonas, Sandset Per Morten, Skretting Grethe
Abstract excerpt
BACKGROUND: Activated protein C (PC) is a serine protease that regulates blood coagulation by inactivating coagulation factors Va and VIIIa. PC deficiency is an autosomally inherited disorder associated with a high risk of recurrent venous thrombosis. The aim of the study was to explore the mechanisms responsible for severe PC deficiency in a patient with the protein C A267T mutation by in-vitro expression...
Topics
- Animals
- Blood Coagulation
- CHO Cells
- Chromosome Disorders
- Cricetinae
- Cricetulus
- Humans
- Mutation
- Proteasome Endopeptidase Complex
- Protein C
- Protein Transport
- Recurrence
- Risk Factors
- Transgenes
- Venous Thrombosis