Serpins in thrombosis, hemostasis and fibrinolysis

JC Rau, LM Beaulieu, JA Huntington… - Journal of thrombosis …, 2007 - Wiley Online Library
Hemostasis and fibrinolysis, the biological processes that maintain proper blood flow, are
the consequence of a complex series of cascading enzymatic reactions. Serine proteases …

[HTML][HTML] Diagnostic and therapeutic value of human serpin family proteins

S Janciauskiene, U Lechowicz, M Pelc… - Biomedicine & …, 2024 - Elsevier
SERPIN (serine proteinase inhibitors) is an acronym for the superfamily of structurally similar
proteins found in animals, plants, bacteria, viruses, and archaea. Over 1500 SERPINs are …

Crystal structure of a stable dimer reveals the molecular basis of serpin polymerization

M Yamasaki, W Li, DJD Johnson, JA Huntington - Nature, 2008 - nature.com
Repeating intermolecular protein association by means of β-sheet expansion is the
mechanism underlying a multitude of diseases including Alzheimer's, Huntington's and …

Incidence and features of thrombosis in children with inherited antithrombin deficiency

B de la Morena-Barrio, C Orlando… - …, 2019 - pmc.ncbi.nlm.nih.gov
Pediatric thromboembolism (≤ 18 years) is very rare (0.07-0.14/10,000/year) but may be
more prevalent in children with severe thrombophilia (protein C, protein S or antithrombin …

Genetic characterization of antithrombin, protein C and protein S deficiencies in Polish patients

E Wypasek, J Corral, M Alhenc-Gelas, W Sydor… - 2017 - ruj.uj.edu.pl
Inherited deficiencies of natural anticoagulants such as antithrombin (AT; gene: SERPINC1),
protein C (PC; PROC), and protein S (PS; PROS1), with the prevalence in the general …

Full-length antithrombin frameshift variant with aberrant C-terminus causes endoplasmic reticulum retention with a dominant-negative effect

C Bravo-Pérez, M Toderici, JE Chambers… - JCI …, 2022 - pmc.ncbi.nlm.nih.gov
Antithrombin, a major endogenous anticoagulant, is a serine protease inhibitor (serpin). We
characterized the biological and clinical impact of variants involving C-terminal antithrombin …

Analysis of AlphaFold and molecular dynamics structure predictions of mutations in serpins

P Garrido-Rodríguez, M Carmena-Bargueño… - Plos one, 2024 - journals.plos.org
Serine protease inhibitors (serpins) include thousands of structurally conserved proteins
playing key roles in many organisms. Mutations affecting serpins may disturb their …

Antithrombin Dublin (p. Val30Glu): a relatively common variant with moderate thrombosis risk of causing transient antithrombin deficiency

J Navarro-Fernández… - Thrombosis and …, 2016 - thieme-connect.com
The key haemostatic role of antithrombin and the risk of thrombosis associated with its
deficiency support that the low incidence of antithrombin deficiency among patients with …

Amelioration of the severity of heparin-binding antithrombin mutations by posttranslational mosaicism

I Martínez-Martínez… - Blood, The Journal …, 2012 - ashpublications.org
The balance between actions of procoagulant and anticoagulant factors protects organisms
from bleeding and thrombosis. Thus, antithrombin deficiency increases the risk of …