Article

7q11.23 CNV alters protein synthesis and REST-mediated neuronal intrinsic excitability

2022-10-10

Abstract excerpt

Copy number variations (CNVs) at 7q11.23 cause Williams-Beuren (WBS) and 7q microduplication syndromes (7Dup), two neurodevelopmental disorders with shared and opposite cognitive-behavioral phenotypes. Using patient-derived and isogenic neurons, we integrated transcriptomics, translatomics and proteomics to elucidate the molecular underpinnings of this dosage effect. We found that 7q11.23 CNVs cause opposite alter...

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Literature Corpus work: ffb94748-e790-554c-9090-53041b8942f6
DOI: 10.1101/2022.10.10.511483

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