7q11.23 CNV altered proteome in iPSC differentiating neurons

ABSTRACT: 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 alterations in neuronal differentiation and neuronal excitability. Here, the 7q11.23 CNV altered proteome in iPSC differentiating neurons was measured by a fast SWATH-MS method.

INSTRUMENT(S):

ORGANISM(S): Homo Sapiens (human)

SUBMITTER: Wenxue Li  

LAB HEAD: Yansheng Liu

PROVIDER: PXD038156 | Pride | 2024-10-17

REPOSITORIES: Pride