Correcting Smad1/5/8, mTOR, and VEGFR2 treats pathology in hereditary hemorrhagic telangiectasia models

Hereditary hemorrhagic telangiectasia (HHT), a genetic bleeding disorder leading to systemic arteriovenous malformations (AVMs), is caused by loss-of-function mutations in the ALK1/ENG/Smad1/5/8 pathway. Evidence suggests that HHT pathogenesis strongly relies on overactivated PI3K/Akt/mTOR and VEGFR...

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Detalhes bibliográficos
Publicado no:J Clin Invest
Main Authors: Ruiz, Santiago, Zhao, Haitian, Chandakkar, Pallavi, Papoin, Julien, Choi, Hyunwoo, Nomura-Kitabayashi, Aya, Patel, Radhika, Gillen, Matthew, Diao, Li, Chatterjee, Prodyot K., He, Mingzhu, Al-Abed, Yousef, Wang, Ping, Metz, Christine N., Oh, S. Paul, Blanc, Lionel, Campagne, Fabien, Marambaud, Philippe
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 2020
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6994128/
https://ncbi.nlm.nih.gov/pubmed/31689244
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI127425
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