GIMAP5 maintains liver endothelial cell homeostasis and prevents portal hypertension

Portal hypertension is a major contributor to decompensation and death from liver disease, a global health problem. Here, we demonstrate homozygous damaging mutations in GIMAP5, a small organellar GTPase, in four families with unexplained portal hypertension. We show that GIMAP5 is expressed in hepa...

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Detalles Bibliográficos
Autores principales: Drzewiecki, Kaela, Choi, Jungmin, Brancale, Joseph, Leney-Greene, Michael A., Sari, Sinan, Dalgiç, Buket, Ünlüsoy Aksu, Aysel, Evirgen Şahin, Gülseren, Ozen, Ahmet, Baris, Safa, Karakoc-Aydiner, Elif, Jain, Dhanpat, Kleiner, David, Schmalz, Michael, Radhakrishnan, Kadakkal, Zhang, Junhui, Hoebe, Kasper, Su, Helen C., Pereira, João P., Lenardo, Michael J., Lifton, Richard P., Vilarinho, Sílvia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Rockefeller University Press 2021
Materias:
Brief Definitive Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8105721/
https://www.ncbi.nlm.nih.gov/pubmed/33956074
http://dx.doi.org/10.1084/jem.20201745

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