Presentation
Comprehensive service for carrying out proteomics analyzes of the nervous system. Support will be given in all phases of the execution of a proteomics experiment, from the choice of the experimental design, through the realization of high-throughput (omic) analysis, of for instance, mass spectrometry, the computational analysis of the 'omics' data or its experimental validation.
This service is intended to characterize the functional impact of genetic variants that cause diseases of the nervous system. Especially variants of uncertain significance (VUS, Variant of Uncertain Significance).
Depending on the project, one or more of the services detailed below may be hired.
Services
- Experimental design of proteomic studies using mass spectrometry: Advice on choosing the best experimental design based on the specific needs of each research project.
- Proteomic studies using mass spectrometry. Carrying out proteomics studies using mass spectrometry, for the identification and quantification of proteins in complex biological samples.
- Statistical analysis of proteomics data. With the aim of identifying the altered proteins in the investigated pathology.
- Bioinformatics studies of proteomics data. Intended to identify the most relevant functional alterations for the pathology studied.
- Experimental validation of proteomics results. Biochemistry, molecular biology and cell biology tools will be used to validate the results of the proteomic studies.
- Development of clinical diagnostic procedures for the functional validation of genetic variants of uncertain significance in neuropediatric diseases.
- Specific identification of proteins in complex biological samples using targeted proteomics or other biochemical and molecular biology techniques.
Responsables
Contact mail: abayesp@santpau.
Scientific Responsible / Technical Responsible / Manager Responsible
Experience and Trajectory
Scientific Publications in the field pf Proteomics, other ‘omic’ sciences and bioinformatics.
- Rita Reig-Viader, Diego del Castillo-Berges, Albert Burgas-Pau, Daniel Arco-Alonso, David Ramos-Vicente, Carlos Sindreu and Àlex Bayés. Synaptic proteome diversity is shaped by the levels of glutamate receptors and their regulatory proteins. bioRxiv, 8th April 2025. (Under review at Nature Communications)
https://www.biorxiv.org/content/10.1101/2024.04.04.588090v2 - Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Anushya Muruganujan, Suzanna E Lewis, Dustin Ebert, Tremayne Mushayahama, Gene Ontology Consortium (Inc. Àlex Bayés), Paul D Thomas. A compendium of human gene functions derived from evolutionary modelling. Nature. 2025 Feb 26. doi: 10.1038/s41586-025-08592-0.
- Trubetskoy V. et al. SynGO Consortium (Inc. Àlex Bayés). Mapping genomic loci implicates genes and synaptic biology in schizophrenia. Nature 2022 Apr;604(7906):502-508. doi: 10.1038/s41586-022-04434-5
- Frank Koopmans, et al. SynGO: an evidence-based, expert-curated knowledgebase for the synapse. Neuron 2019 May 22. pii: S0896-6273(19)30427-1.
- Àlex Bayés et al. Evolution of complexity in the zebrafish synapse proteome. Nature Communications 2017 Mar 2;8:14613.
- Àlex Bayés, et al. Characterisation of the proteome, disease and evolution of the human postsynaptic density. Nature Neuroscience 2011 Jan; 14(1): 19-21.
Equipment
Equipment involved in providing the service:
- General biochemistry and molecular biology equipment.
