Identification and computationally-based structural interpretation of naturally occurring variants of human protein C. (Articolo in rivista)

Type
Label
  • Identification and computationally-based structural interpretation of naturally occurring variants of human protein C. (Articolo in rivista) (literal)
Anno
  • 2007-01-01T00:00:00+01:00 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
  • 10.1002/humu.20445 (literal)
Alternative label
  • Rovida E; Merati G; D'Ursi P; Zanardelli S; Marino F; Fontana G; Castaman G; Faioni EM (2007)
    Identification and computationally-based structural interpretation of naturally occurring variants of human protein C.
    in Human mutation
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Rovida E; Merati G; D'Ursi P; Zanardelli S; Marino F; Fontana G; Castaman G; Faioni EM (literal)
Pagina inizio
  • 345 (literal)
Pagina fine
  • 355 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
  • 28 (literal)
Rivista
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroFascicolo
  • 4 (literal)
Note
  • PubMe (literal)
  • ISI Web of Science (WOS) (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • Institute of Biomedical Technologies-National Research Council, Segrate, Milano, Italy 2Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Policlinico and Regina Elena Foundation, University of Milano, Milano, Italy 3Department of Biomedical Science and Technology-University of Milano, Milano, Italy 4Hematology and Thrombosis Unit, University of Milano, and San Paolo Hospital, Milano, Italy 5Hematology Unit, San Bortolo Hospital, Vicenza, Italy (literal)
Titolo
  • Identification and computationally-based structural interpretation of naturally occurring variants of human protein C. (literal)
Abstract
  • Protein C (PC) is a key regulator of blood clotting and inflammation. Its inherited deficiency is associated with venous thromboembolism, and recombinant activated PC is currently used to increase survival in severe sepsis. The molecular basis of inherited PC deficiency is heterogeneous. Due to its multiple physiologic interactions and functions, and its modular structure, natural variants aid in the understanding of the relationship between critical residues and discrete functions. This knowledge has important therapeutic implications in the planning of a recombinant activated PC with a specific therapeutic target and devoid of major collateral effects. A way of predicting important functional consequences of residue variation is the use of molecular modeling and structural interpretation of amino acidic substitutions. A study of 21 out of 32 identified PC gene (PROC) variants is presented. For three of them, localized in the active site, electrostatic potential variation was calculated. For more than half of the studied variants, an explanation for the functional impairment could be derived from computational analysis, allowing a focused choice of which variants it is worthwhile (literal)
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