Phosphoproteomic profiling highlights CDC42 and CDK2 as key players in the regulation of the TGF-β pathway in ALMS1 and BBS1.

Using genomic editing with CRISPR-CAS9 and phosphoproteomics we have studied the TGF-β signalling pathway in knock-out (KO) models for ALMS1 and BBS1 genes. We have developed a network diffusion-based analysis pipeline to expand the data initially obtained and to be able to determine which processes were deregulated in the TGF-β pathway. Finally, we have analysed protein-protein interactions to prioritise candidate genes in the regulation of the TGF-β pathway in Alström and Bardet Biedl syndrome.