A homozygous SFTPA1 mutation drives necroptosis of type II alveolar epithelial cells in patients with idiopathic pulmonary fibrosis

Idiopathic pulmonary fibrosis (IPF) is a fatal disease characterized by scattered fibrotic lesions in the lungs. The pathogenesis and genetic basis of IPF remain poorly understood. Here, we show that a homozygous missense mutation in SFTPA1 caused IPF in a consanguineous Japanese family. The mutatio...

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Detalles Bibliográficos
Autores principales: Takezaki, Akio, Tsukumo, Shin-ichi, Setoguchi, Yasuhiro, Ledford, Julie G., Goto, Hisatsugu, Hosomichi, Kazuyoshi, Uehara, Hisanori, Nishioka, Yasuhiko, Yasutomo, Koji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Rockefeller University Press 2019
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6888986/
https://www.ncbi.nlm.nih.gov/pubmed/31601679
http://dx.doi.org/10.1084/jem.20182351

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6888986/
https://www.ncbi.nlm.nih.gov/pubmed/31601679
http://dx.doi.org/10.1084/jem.20182351

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