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Article

Pharmacological Inhibition of ERK Signaling Rescues Pathophysiology and Behavioral Phenotype Associated with 16p11.2 Chromosomal Deletion in Mice.

The Journal of neuroscience : the official journal of the Society for Neuroscience - 25 Jul 2018

Pucilowska Joanna, Vithayathil Joseph, Pagani Marco, Kelly Caitlin, Karlo J Colleen, Robol Camilla, Morella Ilaria, Gozzi Alessandro, Brambilla Riccardo, Landreth Gary E

Abstract excerpt

The human 16p11.2 microdeletion is one of the most common gene copy number variations linked to autism, but the pathophysiology associated with this chromosomal abnormality is largely unknown. The 593 kb deletion contains the ERK1 gene and other genes that converge onto the ERK/MAP kinase pathway. Perturbations in ERK signaling are linked to a group of related neurodevelopmental disorders hallmarked by...

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Identifiers

PMID: 29934348
DOI: 10.1523/JNEUROSCI.0515-17.2018
PMCID: PMC6705960

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