Literature DB >> 1451784

A dysfunctional C1 inhibitor protein with a new reactive center mutation (Arg-444-->Leu).

D Frangi1, K S Aulak, M Cicardi, R A Harrison, A E Davis.   

Abstract

A P1 mutation (Arg-444-->Leu) was identified in a dysfunctional C1 inhibitor from a patient with type 2 hereditary angioneurotic edema. The mutation was defined at the level of the protein (by sequence analysis of the Pseudomonas aeruginosa elastase-derived reactive center peptide), and the mRNA (CGC-->CTC) (by sequence analysis of PCR-amplified DNA).

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Year:  1992        PMID： 1451784     DOI： 10.1016/0014-5793(92)80204-t

Source DB:  PubMed          Journal:  FEBS Lett        ISSN： 0014-5793            Impact factor:   4.124


  7 in total

1.  Hereditary and acquired angioedema: problems and progress: proceedings of the third C1 esterase inhibitor deficiency workshop and beyond.

Authors:  Angelo Agostoni; Emel Aygören-Pürsün; Karen E Binkley; Alvaro Blanch; Konrad Bork; Laurence Bouillet; Christoph Bucher; Anthony J Castaldo; Marco Cicardi; Alvin E Davis; Caterina De Carolis; Christian Drouet; Christiane Duponchel; Henriette Farkas; Kálmán Fáy; Béla Fekete; Bettina Fischer; Luigi Fontana; George Füst; Roberto Giacomelli; Albrecht Gröner; C Erik Hack; George Harmat; John Jakenfelds; Mathias Juers; Lajos Kalmár; Pál N Kaposi; István Karádi; Arianna Kitzinger; Tímea Kollár; Wolfhart Kreuz; Peter Lakatos; Hilary J Longhurst; Margarita Lopez-Trascasa; Inmaculada Martinez-Saguer; Nicole Monnier; István Nagy; Eva Németh; Erik Waage Nielsen; Jan H Nuijens; Caroline O'grady; Emanuela Pappalardo; Vincenzo Penna; Carlo Perricone; Roberto Perricone; Ursula Rauch; Olga Roche; Eva Rusicke; Peter J Späth; George Szendei; Edit Takács; Attila Tordai; Lennart Truedsson; Lilian Varga; Beáta Visy; Kayla Williams; Andrea Zanichelli; Lorenza Zingale
Journal:  J Allergy Clin Immunol       Date:  2004-09       Impact factor: 10.793

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.  Mutation update of SERPING1 related to hereditary angioedema in the Chinese population.

Authors:  Xue Wang; Shubin Lei; Yingyang Xu; Shuang Liu; Yuxiang Zhi
Journal:  Hereditas       Date:  2022-07-11       Impact factor: 2.595

4.  A mutation unique in serine protease inhibitors (serpins) identified in a family with type II hereditary angioneurotic edema.

Authors:  J G Ocejo-Vinyals; F Leyva-Cobián; J L Fernández-Luna
Journal:  Mol Med       Date:  1995-09       Impact factor: 6.354

5.  Crucial residues in the carboxy-terminal end of C1 inhibitor revealed by pathogenic mutants impaired in secretion or function.

Authors:  E Verpy; E Couture-Tosi; E Eldering; M Lopez-Trascasa; P Späth; T Meo; M Tosi
Journal:  J Clin Invest       Date:  1995-01       Impact factor: 14.808

6.  Unique C1 inhibitor dysfunction in a kindred without angioedema. II. Identification of an Ala443-->Val substitution and functional analysis of the recombinant mutant protein.

Authors:  R Zahedi; J J Bissler; A E Davis; C Andreadis; J J Wisnieski
Journal:  J Clin Invest       Date:  1995-03       Impact factor: 14.808

7.  Genetic variants of SERPING1 gene in Polish patients with hereditary angioedema due to C1 inhibitor deficiency.

Authors:  Krystyna Obtulowicz; Teofila KsiĄŻek; Anna Bogdali; Wojciech Dyga; Ewa Czarnobilska; Aldona Juchacz
Journal:  Cent Eur J Immunol       Date:  2020-11-01       Impact factor: 2.085
  7 in total

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