Molecular Mechanisms

MeCP2-regulated miRNAs control early human neurogenesis through differential effects on ERK and AKT signaling.

Pathogenic variants that alter protein code often disrupt splicing.

Opposing effects on Na_v1.2 function underlie differences between SCN2A variants observed in individuals with autism spectrum disorder or infantile seizures.

The autism-linked UBE3A^T485A mutant E3 ubiquitin ligase activates the Wnt/beta-catenin pathway by inhibiting the proteasome.

Structures of neuroligin-1 and the neuroligin-1/neurexin-1 beta complex reveal specific protein-protein and protein-Ca2+ interactions.

Mice lacking the signaling molecule CalDAG-GEFI represent a model for leukocyte adhesion deficiency type III.

Correction of fragile X syndrome in mice.

Inhibition of p21-activated kinase rescues symptoms of fragile X syndrome in mice.

Ten_m3 regulates eye-specific patterning in the mammalian visual pathway and is required for binocular vision.

A neuroligin-3 mutation implicated in autism increases inhibitory synaptic transmission in mice.

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