|
|
 Previous Article | Table of Contents | Next Article 
Coagulation factor XII Locarno: the functional defect is caused by the
amino acid substitution Arg 353-->Pro leading to loss of a kallikrein
cleavage site
JK Hovinga, J Schaller, H Stricker, WA Wuillemin, M Furlan and B Lammle
Central Hematology Laboratory, Inselspital, Bern, Switzerland.
The dysfunctional coagulation factor XII (FXII) Locarno was purified from 2
L of the proposita's plasma. Studies to identify the molecular defect
responsible for the lack of amidolytic and proteolytic activity of this
FXII variant were performed. Amino acid sequence analysis of peptides
obtained from FXII Locarno on activation with either trypsin or plasma
kallikrein and dextran sulfate showed an amino acid substitution of Arg 353
by Pro. Thereby, the kallikrein cleavage site at Arg 353-Val 354 is lost.
Although trypsin-activated FXII Locarno was fully cleaved at Arg 334-Asn
335 and at Arg 343-Leu 344, neither amidolytic nor proteolytic activity was
generated. We conclude that proteolytic cleavage at Arg 343 in the absence
of cleavage at Arg 353 is not sufficient to expose the enzymatic active
site in FXII Locarno.
Volume 84,
Issue 4,
pp. 1173-1181,
08/15/1994
Copyright © 1994 by The American Society of Hematology
 CiteULike  Connotea  Del.icio.us  Digg  Reddit  Technorati What's this?
This article has been cited by other articles:
|
|
|
|
 
A. Girolami, S. Gavasso, E. Pacquola, L. Cabrio, A. M. Lombardi, and B. Girolami
Comparable Levels of Activity and Antigen in Factor XII Deficiency: A Study of 21 Homozygotes and 58 Heterozygotes
Clinical and Applied Thrombosis/Hemostasis,
July 1, 2005;
11(3):
335 - 338.
[Abstract]
[PDF]
|
|
|
|
|
|
|
N. Fujihara, M. Tozuka, K. Yamauchi, I. Ueno, N. Urasawa, S. Ishikawa, M. Hirota-Kawadobora, N. Okumura, H. Hidaka, and T. Katsuyama
Characterization of Factor XII Tenri, a Rare CRM-Negative Factor XII Deficiency
Ann. Clin. Lab. Sci.,
April 1, 2004;
34(2):
218 - 225.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
S. Kondo, F. Tokunaga, S. Kawano, Y. Oono, S. Kumagai, and T. Koide
Factor XII Tenri, a Novel Cross-Reacting Material Negative Factor XII Deficiency, Occurs Through a Proteasome-Mediated Degradation
Blood,
June 15, 1999;
93(12):
4300 - 4308.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
M. Schloesser, S. Zeerleder, G. Lutze, W.-M. Halbmayer, S. Hofferbert, B. Hinney, H. Koestering, B. Lammle, G. Pindur, K. Thies, et al.
Mutations in the Human Factor XII Gene
Blood,
November 15, 1997;
90(10):
3967 - 3977.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
