Rett syndrome: Crossing the threshold to clinical translation.
Maternal loss of UBE3A impairs experience-driven dendritic spine maintenance in the developing visual cortex.
DIXDC1 contributes to psychiatric susceptibility by regulating dendritic spine and glutamatergic synapse density via GSK3 and Wnt/beta-catenin signaling.
Mutations in MBOAT7, encoding lysophosphatidylinositol acyltransferase I, lead to intellectual disability accompanied by epilepsy and autistic features.
Persistent neuronal UBE3A expression in the suprachiasmatic nucleus of Angelman syndrome model mice.
GABAergic neuron-specific loss of UBE3A causes Angelman syndrome-like EEG abnormalities and enhances seizure susceptibility.
Variants in HNRNPH2 on the X chromosome are associated with a neurodevelopmental disorder in females.
Loss of UBE3A from TH-expressing neurons suppresses GABA co-release and enhances VTA-NAc optical self-stimulation.
Subcellular organization of UBE3A in neurons.
SFARI Society for Neuroscience 2016 Social
Join the SFARI science team and leaders in the autism research community for an informal evening of food, drink, conversation and mingling on 14 November 2016 in San Diego.
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