Genetic activation of ERK2 recapitulates core neurodevelopmental features of Rasopathy syndromes in mice

Abstract excerpt

<h4>SUMMARY</h4> Germline pathogenic variants that activate the Ras/mitogen-activated protein kinase (MAPK) pathway cause neurodevelopmental disorders called ‘Rasopathies’. Because many affected proteins directly regulate Ras, causative mutations may alter other Ras-dependent pathways in addition to MAPK signaling. To better understand which Rasopathy sequelae result from hyperactivation of downstream MAP kinases...

Topics

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• Disease Models, Animal
• MAP Kinase Signaling System
• Mice
• Mitogen-Activated Protein Kinase 1
• Neurodevelopmental Disorders
• Phenotype
• Protein Tyrosine Phosphatases
• ras Proteins

Identifiers and source

Literature Corpus work

ebd971ff-7710-5d92-a4d4-a01b5705b078

DOI

10.64898/2025.12.15.694380