Dominant-negative SERPING1 variants cause intracellular retention of C1 inhibitor in hereditary angioedema

Hereditary angioedema (HAE) is an autosomal dominant disease characterized by recurrent edema attacks associated with morbidity and mortality. HAE results from variations in the SERPING1 gene that encodes the C1 inhibitor (C1INH), a serine protease inhibitor (serpin). Reduced plasma levels of C1INH...

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Veröffentlicht in:	The Journal of clinical investigation 2019-01, Vol.129 (1), p.388-405
Hauptverfasser:	Haslund, Didde, Ryø, Laura Barrett, Seidelin Majidi, Sara, Rose, Iben, Skipper, Kristian Alsbjerg, Fryland, Tue, Bohn, Anja Bille, Koch, Claus, Thomsen, Martin K, Palarasah, Yaseelan, Corydon, Thomas J, Bygum, Anette, Nejsum, Lene N, Mikkelsen, Jacob Giehm
Format:	Artikel
Sprache:	eng
Schlagworte:	Alleles Angioneurotic edema Care and treatment Complement C1 Inhibitor Protein - genetics Complement C1 Inhibitor Protein - metabolism Endoplasmic Reticulum - genetics Endoplasmic Reticulum - metabolism Endoplasmic Reticulum - pathology Female Fibroblasts - metabolism Fibroblasts - pathology Genetic variation HeLa Cells Hereditary Angioedema Types I and II - genetics Hereditary Angioedema Types I and II - metabolism Hereditary Angioedema Types I and II - pathology Humans Male Patient outcomes Risk factors Transduction, Genetic
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