Fig. 1: Overview of study workflow. | Molecular Psychiatry

Fig. 1: Overview of study workflow.

From: Impaired OTUD7A-dependent Ankyrin regulation mediates neuronal dysfunction in mouse and human models of the 15q13.3 microdeletion syndrome

Fig. 1

a 15q13.3 microdeletion locus and driver gene, OTUD7A (red font). Mouse and human 15q13.3 microdeletion and OTUD7A patient mutation models show abnormal neuronal morphology and electrical activity. b A BioID2 proximity-labeling proteomics screen of OTUD7A identified the enrichment of proteins localized to the postsynaptic density, cytoskeleton and axon, which are disrupted by OTUD7A mutations. In addition, the OTUD7A PPI network was enriched for known NDD-associated proteins. Top BioID2 interactors (including Ankyrin-G) were validated via co-immunoprecipitation, protein levels, ubiquitination status and protein stability in mouse and human models, and genetic rescue of morphological abnormalities in the 15q13.3 microdeletion background.

Back to article page