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-conta...

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Veröffentlicht in:	The Journal of clinical investigation 2011-03, Vol.121 (3), p.1026
Hauptverfasser:	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:	Artikel
Sprache:	eng
Schlagworte:	Cardiomyopathy, Hypertrophic Complications and side effects Drug therapy Gene mutations Genetic aspects Health aspects LEOPARD syndrome Rapamycin Risk factors
Online-Zugang:	Volltext
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