Article
Genetic activation of ERK2 recapitulates core neurodevelopmental features of Rasopathy syndromes in mice.
HGG advances - 9 Jul 2026
Grover Kassidy E, Cappel Zoe R, Volz Avery M, Cotella Evelin M, Smallwood Kelly, Berryhill Christine A, Raje Kimaya R, Fisher Austen A, Casper Mary Claire T, Nardini Diana, Rizvi Tilat A, Salazar Rosa M, Wooten Ashley, Williams Michael T, Vorhees Charles V, Romick Lindsey E, Greis Kenneth D, Hu Yueh-Chiang, Miles Linde A, Angus Steven P, Ratner Nancy, Prada Carlos E, Weaver K Nicole, Waclaw Ronald R, Robinson J Elliott
Abstract excerpt
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 MAPKs, we engineered mice with...
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