Article
MEK inhibition ameliorates social behavior phenotypes in a Spred1 knockout mouse model for RASopathy disorders.
Molecular autism - 26 Jul 2021
Borrie Sarah C, Plasschaert Ellen, Callaerts-Vegh Zsuzsanna, Yoshimura Akihiko, D'Hooge Rudi, Elgersma Ype, Kushner Steven A, Legius Eric, Brems Hilde
Abstract excerpt
BACKGROUND: RASopathies are a group of disorders that result from mutations in genes coding for proteins involved in regulating the Ras-MAPK signaling pathway, and have an increased incidence of autism spectrum disorder (ASD). Legius syndrome is a rare RASopathy caused by loss-of-function mutations in the SPRED1 gene. The patient phenotype is similar to, but milder than, Neurofibromatosis type 1-another RASopathy...
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