Article

Systems Analysis of the 22q11.2 Microdeletion Syndrome Converges on a Mitochondrial Interactome Necessary for Synapse Function and Behavior

2018-05-04

Abstract excerpt

Neurodevelopmental disorders offer insight into synaptic mechanisms. To unbiasedly uncover these mechanisms, we studied the 22q11.2 syndrome, a recurrent copy number variant, which is the highest schizophrenia genetic risk factor. We quantified the proteomes of 22q11.2 mutant human fibroblasts and mouse brains carrying a 22q11.2-like defect, Df(16)A+/- . Molecular ontologies defined mitochondrial compartments and...

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Literature Corpus work: b30039b4-2b73-5011-936c-582f13a7815f
DOI: 10.1101/315143

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