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Gonzalez-Bermejo, M.

Publications and source records attributed to Gonzalez-Bermejo, M..

2 recordsLinked to original sources

A single-cell atlas linking intratumoral states to therapeutic vulnerabilities across cancers

Intratumoral heterogeneity (ITH) is a major determinant of therapeutic failure, yet its impact on drug response across cancers remains incompletely understood. Here, we present the Therapeutic Cancer Cell Atlas (TCCA), a pan-cancer single-cell resource integrating [~]1.8 million transcriptomes from 537 patients and 183 cancer cell lines spanning 34 tumor types. By combining single-cell transcriptomics with copy-number alteration inference and computational drug-response prediction, we systematically map therapeutic heterogeneity at subclonal resolution across cancers. Using this framework, we identify ten recurrent therapeutic clusters that capture conserved and context-specific drug vulnerabilities across tumor lineages. Notably, therapeutic heterogeneity is largely decoupled from genomic and transcriptomic diversity and instead arises from distinct functional transcriptional programs and tumor microenvironment (TME) states. Integration with transcriptional metaprograms and TME archetypes reveals how stress responses, proliferative states, lineage programs, and immune context shape drug sensitivity beyond tissue of origin. We further demonstrate the translational relevance of TCCA by linking therapeutic clusters to patient outcomes and validating predicted vulnerabilities using pharmacogenomic datasets, including clinically actionable examples in aggressive tumor subtypes. Together, TCCA provides a multidimensional atlas connecting subclonal states, microenvironmental context, and drug response, offering a scalable framework to guide therapeutic prioritization, drug repurposing, and combination strategies in precision oncology.

bioinformatics↗

TAF1-dependent transcriptional dysregulation underlies multiple sclerosis

A major conceptual and clinical challenge in multiple sclerosis (MS) is understanding the mechanisms that drive the central nervous system (CNS)-resident neuroinflammation and neurodegeneration underneath disease progression. Genome-wide association studies (GWAS) have implicated RNA polymerase II (RNAPII) promoter-proximal pausing in oligodendrocyte pathology, but the causal mechanisms remain unclear. Here we find that the C-terminal region of TAF1, a core component of the general transcription factor TFIID, is underdetected in progressive MS brains, which can be explained by endoproteolysis due to extralysosomal cathepsin B (CTSB). Mice lacking the C-terminal TAF1 domain (Taf1d38) exhibit MS-like brain transcriptomic signature, alongside CNS-resident inflammation, progressive demyelination, and motor disability. Mechanistically, C-terminal TAF1 interacts with MS-linked factors that cooperate to regulate RNAPII pausing, particularly affecting oligodendroglial myelination genes. These findings uncover a previously unrecognized transcriptional mechanism underlying MS progression and establish a tractable in vivo model for therapeutic development.

neuroscience↗