Proteomics

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Proteomics investigation of alterations driven by 7q11.23 CNVs in neurons

ABSTRACT: Copy number variations (CNVs) at 7q11.23 cause Williams-Beuren (WBS) and 7q microduplication syndromes (7Dup), two neurodevelopmental disorders with both shared and symmetrically opposite cognitive-behavioral phenotypes. Here, we profiled the proteomes of isogenic Ngn2-driven neurons that recapitulate the three dosages of 7q11.23 (hemiduplicated, control and hemideleted).

INSTRUMENT(S): Q Exactive HF

ORGANISM(S): Homo Sapiens (human)

SUBMITTER: Roberta Noberini  

LAB HEAD: Tiziana Bonaldi

PROVIDER: PXD035276 | Pride | 2024-10-17

REPOSITORIES: Pride

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Action DRS
HF181023_MM_neuro_DUP1_1.raw Raw
HF181023_MM_neuro_DUP1_3.raw Raw
HF181023_MM_neuro_DUP2_1.raw Raw
HF181023_MM_neuro_DUP2_2.raw Raw
HF181023_MM_neuro_DUP3_1.raw Raw
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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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