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Article

Tyrosyl phosphorylation of PZR promotes hypertrophic cardiomyopathy in PTPN11-associated Noonan syndrome with multiple lentigines.

JCI insight - 6 Aug 2020

Yi Jae-Sung, Perla Sravan, Enyenihi Liz, Bennett Anton M

Abstract excerpt

Noonan syndrome with multiple lentigines (NSML) is a rare autosomal dominant disorder that presents with cardio-cutaneous-craniofacial defects. Hypertrophic cardiomyopathy (HCM) represents the major life-threatening presentation in NSML. Mutations in the PTPN11 gene that encodes for the protein tyrosine phosphatase (PTP), SHP2, represents the predominant cause of HCM in NSML. NSML-associated PTPN11 mutations...

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Share to Cardiomyopathy, Hypertrophic
Share to Intracellular Signaling Peptides and Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to LEOPARD Syndrome

Share to Myocytes, Cardiac

Share to Phosphoproteins

Share to Phosphorylation

Share to Protein Tyrosine Phosphatase, Non-Receptor Type 11

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Source

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Identifiers

PMID: 32584792
DOI: 10.1172/jci.insight.137753
PMCID: PMC7455087

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

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