Proteomics

Dataset Information

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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): TripleTOF 5600

ORGANISM(S): Homo Sapiens (human)

SUBMITTER: Wenxue Li  

LAB HEAD: Yansheng Liu

PROVIDER: PXD038156 | Pride | 2024-10-17

REPOSITORIES: Pride

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Dataset's files

Source:
Action DRS
E1701311548_matrix_NClib_20170201_Testa_10neuronsamplesextracted.xlsx Xlsx
SampleAnnotations.txt Txt
yanliu_L170118_002_SW.wiff Wiff
yanliu_L170118_002_SW.wiff.scan Wiff
yanliu_L170118_004_SW.wiff Wiff
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Publications

Multiscale modeling uncovers 7q11.23 copy number variation-dependent changes in ribosomal biogenesis and neuronal maturation and excitability.

Mihailovich Marija M   Germain Pierre-Luc PL   Shyti Reinald R   Pozzi Davide D   Noberini Roberta R   Liu Yansheng Y   Aprile Davide D   Tenderini Erika E   Troglio Flavia F   Trattaro Sebastiano S   Fabris Sonia S   Ciptasari Ummi U   Rigoli Marco Tullio MT   Caporale Nicolò N   D'Agostino Giuseppe G   Mirabella Filippo F   Vitriolo Alessandro A   Capocefalo Daniele D   Skaros Adrianos A   Franchini Agnese Virginia AV   Ricciardi Sara S   Biunno Ida I   Neri Antonino A   Nadif Kasri Nael N   Bonaldi Tiziana T   Aebersold Rudolf R   Matteoli Michela M   Testa Giuseppe G  

The Journal of clinical investigation 20240715 14

Copy number variation (CNV) at 7q11.23 causes Williams-Beuren syndrome (WBS) and 7q microduplication syndrome (7Dup), neurodevelopmental disorders (NDDs) featuring intellectual disability accompanied by symmetrically opposite neurocognitive features. Although significant progress has been made in understanding the molecular mechanisms underlying 7q11.23-related pathophysiology, the propagation of CNV dosage across gene expression layers and their interplay remains elusive. Here we uncovered 7q11  ...[more]

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