Search bioRxiv⌕ Search

Biology subjects

Pereda Serras, C.

Publications and source records attributed to Pereda Serras, C..

3 recordsLinked to original sources

Integrating single-cell and bulk transcriptomic perturbation resources reveals complementary therapeutic spaces for drug repurposing

Transcriptome-based drug repurposing can accelerate therapeutic discovery, but is limited by fragmented resources, inconsistent quality control, and reliance on single perturbation databases. We developed CDRPipe (Computational Drug Repurposing Pipeline), a unified framework that interrogates disease signatures against drug perturbation signatures generated by distinct experimental technologies. Specifically, CDRPipe harmonizes microarray perturbation profiles from the Connectivity Map (CMap; 1,968 quality-filtered experiments) with pseudo-bulk profiles derived from large-scale single-cell RNA sequencing experiments in the Tahoe-100M database (56,827 experiments). CDRPipe standardizes preprocessing, computes rank-based connectivity scores, and evaluates significance using empirical null models. We applied CDRPipe to 233 curated disease signatures from GEO and CREEDS and evaluated performance using known drug-disease associations from Open Targets. Single-cell-derived pseudo-bulk profiles recovered more annotated therapeutics than microarray profiles (median recall 50.0% vs. 6.2%; Wilcoxon p < 10-{superscript 1}{superscript 1}), thought these differences partly reflect differences in drug library composition and clinical annotation coverage. Importantly, the two resources were highly complementary, with only 3.5% overlap in recovered drugs, indicating that integrating predictions across independent perturbation resources expands therapeutic coverage and enables identification of high-confidence consensus candidates. Case studies in autoimmune disease and endometriosis further demonstrate that CDRPipe recovers clinically relevant therapies while revealing technology-dependent patterns of discovery. These results show that integrating heterogeneous transcriptomic perturbation resources improves the robustness and interpretability of transcriptional drug repurposing. One Sentence SummaryIntegrating drug perturbation resources from distinct transcriptomic platforms improves the robustness and accuracy of drug repurposing predictions.

bioinformatics↗

Tri-AD: Hippocampal cell-type-specific responses to age, sex and APOE genotype

Alzheimers disease (AD) risk is strongly shaped by age, sex, and the apolipoprotein E {varepsilon}4 (APOE4) allele--the strongest genetic risk factor for late-onset AD. While each factor has been studied independently, their combined impact on cellular and molecular processes remains unclear. Here, we used single-nucleus RNA sequencing (snRNA-seq) to profile hippocampal cell states in a sex-balanced cohort of human APOE4/4 and APOE3/3 knock-in mice across 6, 12, and 18 months of age. We identify sex as the major driver of variation in cell-type abundance and find that oligodendrocytes exhibit pronounced male-biased transcriptional sensitivity to APOE4. Differential expression and cell-cell communication analyses further reveal sex-divergent temporal trajectories in inhibitory neurons, with females showing early APOE4-associated suppression of synaptic pathways and males displaying a delayed but convergent decline. Together, these findings clarify how age, sex, and APOE genotype jointly regulate cell-type-specific gene expression and intercellular communication in the aging hippocampus, providing an innovative and publicly accessible database for aging and AD research and related precision medicine.

bioinformatics↗

The disease-causing tau V337M mutation induces tau hypophosphorylation and perturbs axon morphology pathways

Tau aggregation is a hallmark of several neurodegenerative diseases, including Alzheimers disease and frontotemporal dementia. There are disease-causing variants of the tau-encoding gene, MAPT, and the presence of tau aggregates is highly correlated with disease progression. However, the molecular mechanisms linking pathological tau to neuronal dysfunction are not well understood. This is in part due to an incomplete understanding of the normal functions of tau in development and aging, and how the associated molecular and cellular processes change in the context of causal disease variants of tau. To address these questions in an unbiased manner, we conducted multi-omic characterization of iPSC-derived neurons harboring the MAPT V337M mutation or MAPT knockdown. RNA-seq, ATAC-seq, and phosphoproteomics revealed that both V337M mutation and tau knockdown perturbed levels of transcripts and phosphorylation of proteins related to axonogenesis or axon morphology. When we directly measured axonogenesis, we found that both MAPT V337M and MAPT knockdown caused decreased axon length. Surprisingly, we found that neurons with V337M tau had much lower tau phosphorylation than neurons with WT tau. CRISPR-based screens uncovered regulators of tau phosphorylation in neurons and found that factors involved in axonogenesis modified tau phosphorylation in both MAPT WT and MAPT V337M neurons. Intriguingly, the p38 MAPK pathway specifically modified tau phosphorylation in MAPT V337M neurons. We propose that V337M tau perturbs tau phosphorylation and axon morphology pathways that are relevant to the normal function of tau in development, which could contribute to previously reported cognitive changes in preclinical MAPT variant carriers.

neuroscience↗