Molecular defects in coagulation factor VIII and their impact on factor VIII function

E. L. Saenko; N. Ananyeva; D. Kouiavskaia; H. Schwinn; D. Josic; M. Shima; C. A.E. Hauser; S. Pipe

doi:10.1046/j.1423-0410.2002.00183.x

Molecular defects in coagulation factor VIII and their impact on factor VIII function

E. L. Saenko^*, N. Ananyeva, D. Kouiavskaia, H. Schwinn, D. Josic, M. Shima, C. A.E. Hauser, S. Pipe

^*Corresponding author for this work

Research output: Contribution to journal › Review article › peer-review

8 Scopus citations

Abstract

Molecular defects in Factor VIII (FVIII), such as haemophilia A-related mutations or denaturative conformational changes, may affect the stability of FVIII as well as its interactions with physiological activators, von Willebrand Factor, phospholipid, or conformationally sensitive antibodies. We summarize the contemporary assays which allow identification of impaired functional interactions of FVIII that cause a reduction or loss of its cofactor activity and/or increased immunogenicity. These assays can potentially be used for detection of molecular defects in FVIII and elucidation of the function impaired by these defects.

Original language	English (US)
Pages (from-to)	89-96
Number of pages	8
Journal	Vox Sanguinis
Volume	83
Issue number	2
DOIs	https://doi.org/10.1046/j.1423-0410.2002.00183.x
State	Published - Aug 2002
Externally published	Yes

Keywords

Conformational changes
Factor VIII
Haemophilia A
Mutations
Phospholipid binding
Surface plasmon resonance

ASJC Scopus subject areas

Hematology

Access to Document

10.1046/j.1423-0410.2002.00183.x

Cite this

@article{a896a388016c4187b055216bb58d1a54,

title = "Molecular defects in coagulation factor VIII and their impact on factor VIII function",

abstract = "Molecular defects in Factor VIII (FVIII), such as haemophilia A-related mutations or denaturative conformational changes, may affect the stability of FVIII as well as its interactions with physiological activators, von Willebrand Factor, phospholipid, or conformationally sensitive antibodies. We summarize the contemporary assays which allow identification of impaired functional interactions of FVIII that cause a reduction or loss of its cofactor activity and/or increased immunogenicity. These assays can potentially be used for detection of molecular defects in FVIII and elucidation of the function impaired by these defects.",

keywords = "Conformational changes, Factor VIII, Haemophilia A, Mutations, Phospholipid binding, Surface plasmon resonance",

author = "Saenko, {E. L.} and N. Ananyeva and D. Kouiavskaia and H. Schwinn and D. Josic and M. Shima and Hauser, {C. A.E.} and S. Pipe",

year = "2002",

month = aug,

doi = "10.1046/j.1423-0410.2002.00183.x",

language = "English (US)",

volume = "83",

pages = "89--96",

journal = "Vox Sanguinis",

issn = "0042-9007",

publisher = "Wiley-Blackwell Publishing Ltd",

number = "2",

}

TY - JOUR

T1 - Molecular defects in coagulation factor VIII and their impact on factor VIII function

AU - Saenko, E. L.

AU - Ananyeva, N.

AU - Kouiavskaia, D.

AU - Schwinn, H.

AU - Josic, D.

AU - Shima, M.

AU - Hauser, C. A.E.

AU - Pipe, S.

PY - 2002/8

Y1 - 2002/8

N2 - Molecular defects in Factor VIII (FVIII), such as haemophilia A-related mutations or denaturative conformational changes, may affect the stability of FVIII as well as its interactions with physiological activators, von Willebrand Factor, phospholipid, or conformationally sensitive antibodies. We summarize the contemporary assays which allow identification of impaired functional interactions of FVIII that cause a reduction or loss of its cofactor activity and/or increased immunogenicity. These assays can potentially be used for detection of molecular defects in FVIII and elucidation of the function impaired by these defects.

AB - Molecular defects in Factor VIII (FVIII), such as haemophilia A-related mutations or denaturative conformational changes, may affect the stability of FVIII as well as its interactions with physiological activators, von Willebrand Factor, phospholipid, or conformationally sensitive antibodies. We summarize the contemporary assays which allow identification of impaired functional interactions of FVIII that cause a reduction or loss of its cofactor activity and/or increased immunogenicity. These assays can potentially be used for detection of molecular defects in FVIII and elucidation of the function impaired by these defects.

KW - Conformational changes

KW - Factor VIII

KW - Haemophilia A

KW - Mutations

KW - Phospholipid binding

KW - Surface plasmon resonance

UR - http://www.scopus.com/inward/record.url?scp=0038052806&partnerID=8YFLogxK

U2 - 10.1046/j.1423-0410.2002.00183.x

DO - 10.1046/j.1423-0410.2002.00183.x

M3 - Review article

C2 - 12201837

AN - SCOPUS:0038052806

SN - 0042-9007

VL - 83

SP - 89

EP - 96

JO - Vox Sanguinis

JF - Vox Sanguinis

IS - 2

ER -

Molecular defects in coagulation factor VIII and their impact on factor VIII function

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this