Literature DB >> 3178731

Dysfunctional C1-inhibitor(At), isolated from a type II hereditary-angio-oedema plasma, contains a P1 'reactive centre' (Arg444----His) mutation.

K S Aulak1, P A Pemberton, F S Rosen, R W Carrell, P J Lachmann, R A Harrison.   

Abstract

Simple rapid procedures for identification and analysis of dysfunctional C1-inhibitor proteins mutated at the reactive-centre P1 residue have been developed and used to define structurally a C1-inhibitor protein, C1-inhibitor(At), isolated from an individual with hereditary angio-oedema. The observed mutation, Arg444----His, is compatible with a single base change in the codon used for Arg444 in the native protein.

Entities:  

Mesh：

Substances：

Year:  1988        PMID： 3178731      PMCID： PMC1149343          DOI： 10.1042/bj2530615

Source DB:  PubMed          Journal:  Biochem J        ISSN： 0264-6021            Impact factor:   3.857


  28 in total

1.  Molecular cloning of human C1 inhibitor: sequence homologies with alpha 1-antitrypsin and other members of the serpins superfamily.

Authors:  M Tosi; C Duponchel; P Bourgarel; M Colomb; T Meo
Journal:  Gene       Date:  1986       Impact factor: 3.688

2.  Isolation and analysis of a cDNA coding for human C1 inhibitor.

Authors:  B G Que; P H Petra
Journal:  Biochem Biophys Res Commun       Date:  1986-06-13       Impact factor: 3.575

3.  C1 esterase inhibitor: clinical clues to the pathophysiology of angioedema.

Authors:  M M Frank
Journal:  J Allergy Clin Immunol       Date:  1986-11       Impact factor: 10.793

4.  Deficiencies in regulator proteins. 1. C1 inhibitor.

Authors:  W Cullmann; W Opferkuch
Journal:  Prog Allergy       Date:  1986

5.  Formation of a covalent disulfide-linked antithrombin-albumin complex by an antithrombin variant, antithrombin "Northwick Park".

Authors:  H Erdjument; D A Lane; H Ireland; M Panico; V Di Marzo; I Blench; H R Morris
Journal:  J Biol Chem       Date:  1987-10-05       Impact factor: 5.157

6.  Interactions of plasma kallikrein and C1-s with normal and dysfunctional C1(-)-inhibitor proteins from patients with hereditary angioneurotic edema: analytic gel studies.

Authors:  V H Donaldson; C J Wagner; B Tsuei; G Kindness; D H Bing; R A Harrison; F S Rosen
Journal:  Blood       Date:  1987-04       Impact factor: 22.113

7.  Alpha-1-antitrypsin-Pittsburgh. A potent inhibitor of human plasma factor XIa, kallikrein, and factor XIIf.

Authors:  C F Scott; R W Carrell; C B Glaser; F Kueppers; J H Lewis; R W Colman
Journal:  J Clin Invest       Date:  1986-02       Impact factor: 14.808

8.  Human C1 inhibitor: primary structure, cDNA cloning, and chromosomal localization.

Authors:  S C Bock; K Skriver; E Nielsen; H C Thøgersen; B Wiman; V H Donaldson; R L Eddy; J Marrinan; E Radziejewska; R Huber
Journal:  Biochemistry       Date:  1986-07-29       Impact factor: 3.162

9.  Variability in purified dysfunctional C1(-)-inhibitor proteins from patients with hereditary angioneurotic edema. Functional and analytical gel studies.

Authors:  V H Donaldson; R A Harrison; F S Rosen; D H Bing; G Kindness; J Canar; C J Wagner; S Awad
Journal:  J Clin Invest       Date:  1985-01       Impact factor: 14.808

10.  Primary structure of the reactive site of human C1-inhibitor.

Authors:  G S Salvesen; J J Catanese; L F Kress; J Travis
Journal:  J Biol Chem       Date:  1985-02-25       Impact factor: 5.157
View more
  17 in total

1.  Plasma levels of C1- inhibitor complexes and cleaved C1- inhibitor in patients with hereditary angioneurotic edema.

Authors:  M Cugno; J Nuijens; E Hack; A Eerenberg; D Frangi; A Agostoni; M Cicardi
Journal:  J Clin Invest       Date:  1990-04       Impact factor: 14.808

Review 2.  HAE Pathophysiology and Underlying Mechanisms.

Authors:  Bruce L Zuraw; Sandra C Christiansen
Journal:  Clin Rev Allergy Immunol       Date:  2016-10       Impact factor: 8.667

3.  Dysfunctional C1 inhibitor Ta: deletion of Lys-251 results in acquisition of an N-glycosylation site.

Authors:  R B Parad; J Kramer; R C Strunk; F S Rosen; A E Davis
Journal:  Proc Natl Acad Sci U S A       Date:  1990-09       Impact factor: 11.205

4.  Chymotrypsin inhibitory activity of normal C1-inhibitor and a P1 Arg to His mutant: evidence for the presence of overlapping reactive centers.

Authors:  K S Aulak; A E Davis; V H Donaldson; R A Harrison
Journal:  Protein Sci       Date:  1993-05       Impact factor: 6.725

5.  Rapid and sensitive techniques for identification and analysis of 'reactive-centre' mutants of C1-inhibitor proteins contained in type II hereditary angio-oedema plasmas.

Authors:  K S Aulak; R S Harrison
Journal:  Biochem J       Date:  1990-11-01       Impact factor: 3.857

Review 6.  Angioedema. Pathogenesis, differential diagnosis, and treatment.

Authors:  Evangelo Frigas; Ugochukwu C Nzeako
Journal:  Clin Rev Allergy Immunol       Date:  2002-10       Impact factor: 8.667

7.  Type II hereditary angioneurotic edema that may result from a single nucleotide change in the codon for alanine-436 in the C1 inhibitor gene.

Authors:  N J Levy; N Ramesh; M Cicardi; R A Harrison; A E Davis
Journal:  Proc Natl Acad Sci U S A       Date:  1990-01       Impact factor: 11.205

8.  Nonsense mutations affect C1 inhibitor messenger RNA levels in patients with type I hereditary angioneurotic edema.

Authors:  D Frangi; M Cicardi; A Sica; F Colotta; A Agostoni; A E Davis
Journal:  J Clin Invest       Date:  1991-09       Impact factor: 14.808

9.  Synthesis of C1 inhibitor in fibroblasts from patients with type I and type II hereditary angioneurotic edema.

Authors:  J Kramer; Y Katz; F S Rosen; A E Davis; R C Strunk
Journal:  J Clin Invest       Date:  1991-05       Impact factor: 14.808

10.  C1-inhibitor gene nucleotide insertion causes type II hereditary angio-oedema.

Authors:  Z Siddique; A R McPhaden; K Whaley
Journal:  Hum Genet       Date:  1993-09       Impact factor: 4.132
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.