Rapamycin reverses hypertrophic cardiomyopathy in a mouse model of LEOPARD syndrome–associated PTPN11 mutation

LEOPARD syndrome (LS) is an autosomal dominant “RASopathy” that manifests with congenital heart disease. Nearly all cases of LS are caused by catalytically inactivating mutations in the protein tyrosine phosphatase (PTP), non-receptor type 11 (PTPN11) gene that encodes the SH2 domain-containing PTP-...

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Autors principals: Marin, Talita M., Keith, Kimberly, Davies, Benjamin, Conner, David A., Guha, Prajna, Kalaitzidis, Demetrios, Wu, Xue, Lauriol, Jessica, Wang, Bo, Bauer, Michael, Bronson, Roderick, Franchini, Kleber G., Neel, Benjamin G., Kontaridis, Maria I.
Format: Artigo
Idioma:Inglês
Publicat: American Society for Clinical Investigation 2011
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3049377/
https://ncbi.nlm.nih.gov/pubmed/21339643
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI44972
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