Uncovering a novel SERPING1 pathogenic variant: insights into the aggregation of C1-INH in hereditary angioedema

Uncovering a novel SERPING1 pathogenic variant: insights into the aggregation of C1-INH in hereditary angioedema

Abstract Background Hereditary angioedema (HAE) is a rare autosomal dominant genetic disease characterized by recurrent edema and a potentially fatal risk. Despite its severity, there is a notable lack of effective methods for predicting and preventing HAE attacks. This study aims to thoroughly inve...

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Bibliographic Details
Main Authors: Lingxi Jiang, Chao Dai, Suyang Duan, Tingting Wang, Chunbao Xie, Luhan Zhang, Zimeng Ye, Xiumei Ma, Yi Shi
Format: Article
Language:English
Published: BMC 2024-09-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Apoptosis
Ca2+ overload
C1-INH
Hereditary angioedema
SERPING1 pathogenic variant
Online Access:https://doi.org/10.1186/s13023-024-03306-7
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