Opposing effects on Nav1.2 function underlie differences between SCN2A variants observed in individuals with autism spectrum disorder or infantile seizures.
Molecular Mechanisms
The autism-linked UBE3AT485A 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.
Phosphodiesterase 1B differentially modulates the effects of methamphetamine on locomotor activity and spatial learning through DARPP32-dependent pathways: evidence from PDE1B-DARPP32 double-knockout mice.
Fragile X: translation in action.
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