Article
SHP2 genetic variants in NSML-associated RASopathies disrupt the PZR-IRX transcription factor signaling axis.
Proceedings of the National Academy of Sciences of the United States of America - 2 Sept 2025
Perla Sravan, Stiegler Amy L, Yi Jae-Sung, Enyenihi Liz, Zhang Lei, Riaz Muhammad, An Elvira, Qyang Yibing, Boggon Titus J, Bennett Anton M
Abstract excerpt
Noonan syndrome with multiple lentigines (NSML) is a rare autosomal dominant disorder caused by mutations in PTPN11 (protein tyrosine phosphatase nonreceptor type 11) which encodes for the protein tyrosine phosphatase, SHP2. Approximately 85% of NSML patients develop hypertrophic cardiomyopathy (HCM). Here, we show that SHP2 is recruited to tyrosyl phosphorylated protein-zero related (PZR) in NSML mice. This...
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