Isolation and Characterization of Factor IX Chapel Hill

2015 ◽  
pp. 68-74
Author(s):  
K. S. Chung ◽  
J. C. Goldsmith ◽  
H. R. Roberts
Keyword(s):  
Factor Ix ◽  
Isolation And Characterization ◽  
Chapel Hill

scholarly journals Purification and characterization of an abnormal factor IX (Christmas factor) molecule. Factor IX Chapel Hill.

1978 ◽  
Vol 62 (5) ◽  
pp. 1078-1085 ◽  
Author(s):  
K S Chung ◽  
D A Madar ◽  
J C Goldsmith ◽  
H S Kingdon ◽  
H R Roberts
Keyword(s):  
Factor Ix ◽  
Purification And Characterization ◽  
Chapel Hill

scholarly journals The gene therapy journey for hemophilia: are we there yet?

Hematology ◽  
2012 ◽  
Vol 2012 (1) ◽  
pp. 375-381 ◽  
Author(s):  
Katherine A. High
Keyword(s):  
Gene Therapy ◽  
Clinical Investigation ◽  
Factor Ix ◽  
Adult Males ◽  
Safety Issues ◽  
Isolation And Characterization ◽  
Moderate Disease ◽  
Severe Liver Disease ◽  
Landmark Study

Abstract Since the isolation and characterization of the genes for FVIII and FIX some 30 years ago, a longstanding goal of the field has been development of successful gene therapy for the hemophilias. In a landmark study published in 2011, Nathwani et al demonstrated successful conversion of severe hemophilia B to mild or moderate disease in 6 adult males who underwent intravenous infusion of an adeno-associated viral (AAV) vector expressing factor IX. These 6 subjects have now exhibited expression of FIX at levels ranging from 1% to 6% of normal for periods of > 2 years. This review discusses obstacles that were overcome to reach this goal and the next steps in clinical investigation. Safety issues that will need to be addressed before more widespread use of this approach are discussed. Efforts to extend AAV-mediated gene therapy to hemophilia A, and alternate approaches that may be useful for persons with severe liver disease, who may not be candidates for gene transfer to liver, are also discussed.

Isolation and characterization of bovine factor IX (Christmas factor)

Biochemistry ◽  
1973 ◽  
Vol 12 (24) ◽  
pp. 4938-4945 ◽  
Author(s):  
Kazuo Fujikawa ◽  
Arthur R. Thompson ◽  
Mark E. Legaz ◽  
Robert G. Meyer ◽  
Earl W. Davie
Keyword(s):  
Factor Ix ◽  
Isolation And Characterization ◽  
Bovine Factor

scholarly journals Molecular cloning of a cDNA encoding canine factor IX

Blood ◽  
1989 ◽  
Vol 74 (1) ◽  
pp. 207-212 ◽  
Author(s):  
JP Evans ◽  
HH Watzke ◽  
JL Ware ◽  
DW Stafford ◽  
KA High
Keyword(s):  
Gene Transfer ◽  
Amino Acid Level ◽  
Protein A ◽  
Factor Ix ◽  
Hemophilia B ◽  
Leader Peptide ◽  
Causative Mutation ◽  
Coding Region ◽  
Isolation And Characterization

Abstract Factor IX (F.IX) is a vitamin K-dependent plasma protein, a deficiency of which results in hemophilia B. A canine model of hemophilia B exists; attempts to use this model for gene transfer experiments or characterization of the hemophilic defect require elucidation of normal canine F.IX structure. We report the isolation and characterization of the coding region for canine F.IX cDNA. Canine F.IX possesses 86% identity at the amino-acid level with human F.IX. The leader peptide, Gla domain, EGF domains, and the carboxy-terminal portion of the heavy chains show extensive sequence conservation between the canine and human. All Glu residues undergoing gamma-carboxylation in humans are conserved in canines. The complete coding sequence for canine F.IX has been determined, and the derived translation product has been analyzed. A similar approach should allow identification of the causative mutation in canine hemophilia B. Furthermore, this clone may prove a valuable resource in gene transfer experiments for this disease.

scholarly journals Molecular cloning of a cDNA encoding canine factor IX

Blood ◽  
1989 ◽  
Vol 74 (1) ◽  
pp. 207-212 ◽  
Author(s):  
JP Evans ◽  
HH Watzke ◽  
JL Ware ◽  
DW Stafford ◽  
KA High
Keyword(s):  
Gene Transfer ◽  
Amino Acid Level ◽  
Protein A ◽  
Factor Ix ◽  
Hemophilia B ◽  
Leader Peptide ◽  
Causative Mutation ◽  
Coding Region ◽  
Isolation And Characterization

Factor IX (F.IX) is a vitamin K-dependent plasma protein, a deficiency of which results in hemophilia B. A canine model of hemophilia B exists; attempts to use this model for gene transfer experiments or characterization of the hemophilic defect require elucidation of normal canine F.IX structure. We report the isolation and characterization of the coding region for canine F.IX cDNA. Canine F.IX possesses 86% identity at the amino-acid level with human F.IX. The leader peptide, Gla domain, EGF domains, and the carboxy-terminal portion of the heavy chains show extensive sequence conservation between the canine and human. All Glu residues undergoing gamma-carboxylation in humans are conserved in canines. The complete coding sequence for canine F.IX has been determined, and the derived translation product has been analyzed. A similar approach should allow identification of the causative mutation in canine hemophilia B. Furthermore, this clone may prove a valuable resource in gene transfer experiments for this disease.

scholarly journals Characterization of the defect in activation of factor IX Chapel Hill by human factor XIa.

1981 ◽  
Vol 68 (6) ◽  
pp. 1420-1426 ◽  
Author(s):  
K M Braunstein ◽  
C M Noyes ◽  
M J Griffith ◽  
R L Lundblad ◽  
H R Roberts
Keyword(s):  
Human Factor ◽  
Factor Ix ◽  
Chapel Hill ◽  
Factor Xia

Isolation and characterization of human factor IX cDNA: Identification of Taq I polymorphism and regional assignment

1984 ◽  
Vol 10 (5) ◽  
pp. 465-473 ◽  
Author(s):  
Pudur Jagadeeswaran ◽  
Don E. Lavelle ◽  
Rajinder Kaul ◽  
T. Mohandas ◽  
Stephen T. Warren
Keyword(s):  
Human Factor ◽  
Factor Ix ◽  
Isolation And Characterization ◽  
Human Factor Ix ◽  
Regional Assignment

scholarly journals The gene therapy journey for hemophilia: are we there yet?

Blood ◽  
2012 ◽  
Vol 120 (23) ◽  
pp. 4482-4487 ◽  
Author(s):  
Katherine A. High
Keyword(s):  
Gene Therapy ◽  
Clinical Investigation ◽  
Factor Ix ◽  
Adult Males ◽  
Safety Issues ◽  
Isolation And Characterization ◽  
Moderate Disease ◽  
Severe Liver Disease ◽  
Landmark Study

AbstractSince the isolation and characterization of the genes for FVIII and FIX some 30 years ago, a longstanding goal of the field has been development of successful gene therapy for the hemophilias. In a landmark study published in 2011, Nathwani et al demonstrated successful conversion of severe hemophilia B to mild or moderate disease in 6 adult males who underwent intravenous infusion of an adeno-associated viral (AAV) vector expressing factor IX. These 6 subjects have now exhibited expression of FIX at levels ranging from 1% to 6% of normal for periods of > 2 years. This review discusses obstacles that were overcome to reach this goal and the next steps in clinical investigation. Safety issues that will need to be addressed before more widespread use of this approach are discussed. Efforts to extend AAV-mediated gene therapy to hemophilia A, and alternate approaches that may be useful for persons with severe liver disease, who may not be candidates for gene transfer to liver, are also discussed.

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