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Article

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

The Journal of clinical investigation - 1 Mar 2011

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

Abstract excerpt

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-2 (SHP2). RASopathies typically affect components of the RAS/MAPK pathway, yet it remains unclear how PTPN11...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 21339643
DOI: 10.1172/JCI44972
PMCID: PMC3049377

Genes

PTPN11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Rapamycin reverses hypertrophic cardiomyopathy in a mouse model of LEOPARD syndrome-associated PTPN11 mutation.PMID 21339643Read ↗

The PTPN11 loss-of-function mutation Q510E-Shp2 causes hypertrophic cardiomyopathy by dysregulating mTOR signaling.Semantic proximity Read ↗

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LEOPARD-type SHP2 mutant Gln510Glu attenuates cardiomyocyte differentiation and promotes cardiac hypertrophy via dysregulation of Akt/GSK-3β/β-catenin signaling.Semantic proximity Read ↗

RAS signaling pathway mutations and hypertrophic cardiomyopathy: getting into and out of the thick of it.Semantic proximity Read ↗

Deletion of Ptpn11 (Shp2) in cardiomyocytes causes dilated cardiomyopathy via effects on the extracellular signal-regulated kinase/mitogen-activated protein kinase and RhoA signaling pathways.Semantic proximity Read ↗

LEOPARD syndrome-associated SHP2 mutation confers leanness and protection from diet-induced obesity.Semantic proximity Read ↗

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