A graph-based machine learning framework identifies critical properties of FVIII that lead to hemophilia A.

ABSTRACT: Introduction: Blood coagulation is an essential process to cease bleeding in humans and other species. This mechanism is characterized by a molecular cascade of more than a dozen components activated after an injury to a blood vessel. In this process, the coagulation factor VIII (FVIII) is a master regulator, enhancing the activity of other components by thousands of times. In this sense, it is unsurprising that even single amino acid substitutions result in hemophilia A (HA)-a disease marked by uncontrolled bleeding and that leaves patients at permanent risk of hemorrhagic complications. Methods: Despite recent advances in the diagnosis and treatment of HA, the precise role of each residue of the FVIII protein remains unclear. In this study, we developed a graph-based machin

SUBMITTER: Ferreira MV 

PROVIDER: S-EPMC10206133 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature