Although some ASD risk genes have hardly been studied, for many others, a wealth of basic research data is already available. In the current project, August Smit and Matthijs Verhage aim to better disclose this available information, especially for synaptic genes, to support the translation of genetic findings into specific disease concepts.
Molecular Mechanisms
Annotation of the synaptic interactome and synaptic pathways relevant for autism
Distinct roles of putative excitatory and inhibitory neurons in the macaque inferior temporal cortex in core object recognition behavior.
FOXP1 orchestrates neurogenesis in human cortical basal radial glial cells.
Sequential replacement of PSD95 subunits in postsynaptic supercomplexes is slowest in the cortex.
Reprogramming method does not impact the neuronal differentiation potential of 16p11.2 deletion patient iPSCs.
Assessing the functions of autism risk genes in deep layer cortical neurons during primate midfetal development
Recent technological advances have identified many ASD risk genes, but how these genes affect brain development and function remains unknown, especially in primates. In the current project, Xinyu Zhao, Qiang Chang, André Sousa and Daifeng Wang plan to genetically manipulate three ASD risk genes in marmoset brain slices followed by multimodal integrative analysis of electrical activities, gene expression and chromatin accessibility of single neurons in the prefrontal cortex. The results will provide new and in-depth knowledge of the neuronal functions of these genes in primate brains.
Developmental molecular controls over arealization of descending cortical motor pathways.
Compensation between FOXP transcription factors maintains proper striatal function.
Elevated levels of FMRP-target MAP1B impair human and mouse neuronal development and mouse social behaviors via autophagy pathway.
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.
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