Structural insights into pathogenic mechanism of hypohidrotic ectodermal dysplasia caused by ectodysplasin A variants

Autor: Kang Yu, Chenhui Huang, Futang Wan, Cailing Jiang, Juan Chen, Xiuping Li, Feng Wang, Jian Wu, Ming Lei, Yiqun Wu
Jazyk: angličtina
Rok vydání: 2023
Předmět:
Zdroj: Nature Communications, Vol 14, Iss 1, Pp 1-14 (2023)
Druh dokumentu: article
ISSN: 2041-1723
DOI: 10.1038/s41467-023-36367-6
Popis: EDA variants are associated with X-linked hypohidrotic dysplasia. Here, the authors report the crystal structure of the human EDA-EDAR complex, reveal the important role of this complex in ectodermal development and uncover the structural mechanism of disease-related mutations in EDA.
Databáze: Directory of Open Access Journals