ArticleJournal of proteome research2012
Proteomic profile identifies dysregulated pathways in Cornelia de Lange syndrome cells with distinct mutations in SMC1A and SMC3 genes.
Article in Journal of proteome research, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 43 citations in OpenAlex.
- Mutation type-specific transcriptomic signatures and readthrough therapy rescue in SMC1A-related developmental and epileptic encephalopathy.Epilepsia · 2026Article
- Article
- Cohesin: an emerging master regulator at the heart of cardiac development.Molecular biology of the cell · 2023Article
- Phenome-wide analysis of Taiwan Biobank reveals novel glycemia-related loci and genetic risks for diabetes.Communications biology · 2022Article
- Subclinical myocardial dysfunction is revealed by speckle tracking echocardiography in patients with Cornelia de Lange syndrome.The international journal of cardiovascular imaging · 2022Article
- Disease-associated c-MYC downregulation in human disorders of transcriptional regulation.Human molecular genetics · 2022Article
- The multifaceted roles of cohesin in cancer.Journal of experimental & clinical cancer research : CR · 2022Review
- Riboceine Rescues Auranofin-Induced Craniofacial Defects in Zebrafish.Antioxidants (Basel, Switzerland) · 2021Article
- Review
- BETting on a Transcriptional Deficit as the Main Cause for Cornelia de Lange Syndrome.Frontiers in molecular biosciences · 2021Review
- An Observational Study of Social Interaction Skills and Behaviors in Cornelia de Lange, Fragile X and Rubinstein-Taybi Syndromes.Journal of autism and developmental disorders · 2020Observational
- The multiple facets of the SMC1A gene.Gene · 2020Review
- Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach.Journal of medical genetics · 2020Review
- Lifespan trajectory of affect in Cornelia de Lange syndrome: towards a neurobiological hypothesis.Journal of neurodevelopmental disorders · 2019Article
- Age-related Behavioural Change in Cornelia de Lange and Cri du Chat Syndromes: A Seven Year Follow-up Study.Journal of autism and developmental disorders · 2019Article
- Overexpression of the cohesin-core subunit SMC1A contributes to colorectal cancer development.Journal of experimental & clinical cancer research : CR · 2019Article
- Condensins and cohesins - one of these things is not like the other!Journal of cell science · 2019Review
- Executive functioning in Cornelia de Lange syndrome: domain asynchrony and age-related performance.Journal of neurodevelopmental disorders · 2017Article
- Mutant cohesin affects RNA polymerase II regulation in Cornelia de Lange syndrome.Scientific reports · 2015Article
- Overall and allele-specific expression of the SMC1A gene in female Cornelia de Lange syndrome patients and healthy controls.Epigenetics · 2014Article
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Authors and funding
9 authors at 3 institutions in 2 countries.
Funding
Abstract
Mutations in cohesin genes have been identified in Cornelia de Lange syndrome (CdLS), but its etiopathogenetic mechanisms are still poorly understood. To define biochemical pathways that are affected in CdLS, we analyzed the proteomic profile of CdLS cell lines carrying mutations in the core cohesin genes, SMC1A and SMC3. Dysregulated protein expression was found in CdLS probands compared to controls. The proteomics analysis was able to discriminate between probands harboring mutations in the different domains of the SMC proteins. In particular, proteins involved in the response to oxidative stress were specifically down-regulated in hinge mutated probands. In addition, the finding that CdLS cell lines show an increase in global oxidative stress argues that it could contribute to some CdLS phenotypic features such as premature physiological aging and genome instability. Finally, the c-MYC gene represents a convergent hub lying at the center of dysregulated pathways, and is down-regulated in CdLS. This study allowed us to highlight, for the first time, specific biochemical pathways that are affected in CdLS, providing plausible causal evidence for some of the phenotypic features seen in CdLS.
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