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

Didde Haslund; Laura Barrett Ryø; Sara Seidelin Majidi; Iben Rose Christiansen; Kristian Alsbjerg Skipper; Tue Fryland; Anja Bille Bohn; Claus Koch; Martin Kristian Thomsen; Yaseelan Palarasah; Thomas Juhl Corydon; Anette Bygum; Lene Niemann Nejsum; Jacob Giehm Mikkelsen

doi:10.1172/JCI98869

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

Didde Haslund, Laura Barrett Ryø, Sara Seidelin Majidi, Iben Rose Christiansen, Kristian Alsbjerg Skipper, Tue Fryland, Anja Bille Bohn, Claus Koch, Martin Kristian Thomsen, Yaseelan Palarasah, Thomas Juhl Corydon, Anette Bygum, Lene Niemann Nejsum, Jacob Giehm Mikkelsen

Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review

49 Citations (Scopus)

Original language	English
Article number	CI98869
Journal	Journal of Clinical Investigation
Volume	129
Issue	1
Pages (from-to)	388-405
Number of pages	18
ISSN	0021-9738
DOIs	https://doi.org/10.1172/JCI98869
Publication status	Published - 2019

Keywords

ALPHA(1)-ANTITRYPSIN
ANGIONEUROTIC EDEMA
GENE
MECHANISM
MUTANTS
MUTATION
NEUROSERPIN
POLYMERIZATION
PROTEINS
SUPERFAMILY

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10.1172/JCI98869

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6307969/pdf/jci-129-98869.pdf

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Haslund, D., Ryø, L. B., Majidi, S. S., Christiansen, I. R., Skipper, K. A., Fryland, T., Bohn, A. B., Koch, C., Thomsen, M. K., Palarasah, Y., Corydon, T. J., Bygum, A., Nejsum, L. N., & Mikkelsen, J. G. (2019). Dominant negative SERPING1 variants cause intracellular retention of C1-inhibitor in hereditary angioedema. Journal of Clinical Investigation, 129(1), 388-405. Article CI98869. https://doi.org/10.1172/JCI98869

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title = "Dominant negative SERPING1 variants cause intracellular retention of C1-inhibitor in hereditary angioedema",

keywords = "ALPHA(1)-ANTITRYPSIN, ANGIONEUROTIC EDEMA, GENE, MECHANISM, MUTANTS, MUTATION, NEUROSERPIN, POLYMERIZATION, PROTEINS, SUPERFAMILY",

author = "Didde Haslund and Ry{\o}, \{Laura Barrett\} and Majidi, \{Sara Seidelin\} and Christiansen, \{Iben Rose\} and Skipper, \{Kristian Alsbjerg\} and Tue Fryland and Bohn, \{Anja Bille\} and Claus Koch and Thomsen, \{Martin Kristian\} and Yaseelan Palarasah and Corydon, \{Thomas Juhl\} and Anette Bygum and Nejsum, \{Lene Niemann\} and Mikkelsen, \{Jacob Giehm\}",

year = "2019",

doi = "10.1172/JCI98869",

language = "English",

volume = "129",

pages = "388--405",

journal = "Journal of Clinical Investigation",

issn = "0021-9738",

publisher = "American Society for Clinical Investigation",

number = "1",

}

Haslund, D, Ryø, LB, Majidi, SS, Christiansen, IR, Skipper, KA, Fryland, T, Bohn, AB, Koch, C, Thomsen, MK, Palarasah, Y, Corydon, TJ, Bygum, A, Nejsum, LN & Mikkelsen, JG 2019, 'Dominant negative SERPING1 variants cause intracellular retention of C1-inhibitor in hereditary angioedema', Journal of Clinical Investigation, vol. 129, no. 1, CI98869, pp. 388-405. https://doi.org/10.1172/JCI98869

Dominant negative SERPING1 variants cause intracellular retention of C1-inhibitor in hereditary angioedema. / Haslund, Didde; Ryø, Laura Barrett; Majidi, Sara Seidelin et al.
In: Journal of Clinical Investigation, Vol. 129, No. 1, CI98869, 2019, p. 388-405.

Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review

TY - JOUR

T1 - Dominant negative SERPING1 variants cause intracellular retention of C1-inhibitor in hereditary angioedema

AU - Haslund, Didde

AU - Ryø, Laura Barrett

AU - Majidi, Sara Seidelin

AU - Christiansen, Iben Rose

AU - Skipper, Kristian Alsbjerg

AU - Fryland, Tue

AU - Bohn, Anja Bille

AU - Koch, Claus

AU - Thomsen, Martin Kristian

AU - Palarasah, Yaseelan

AU - Corydon, Thomas Juhl

AU - Bygum, Anette

AU - Nejsum, Lene Niemann

AU - Mikkelsen, Jacob Giehm

PY - 2019

Y1 - 2019

KW - ALPHA(1)-ANTITRYPSIN

KW - ANGIONEUROTIC EDEMA

KW - GENE

KW - MECHANISM

KW - MUTANTS

KW - MUTATION

KW - NEUROSERPIN

KW - POLYMERIZATION

KW - PROTEINS

KW - SUPERFAMILY

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U2 - 10.1172/JCI98869

DO - 10.1172/JCI98869

M3 - Journal article

C2 - 30398465

AN - SCOPUS:85059365210

SN - 0021-9738

VL - 129

SP - 388

EP - 405

JO - Journal of Clinical Investigation

JF - Journal of Clinical Investigation

IS - 1

M1 - CI98869

ER -

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

Keywords

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