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J. A. Ranea

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Open access Aug 2026

Predicting gene compensation in disease with graph embedding techniques

Genetic compensation plays a critical role in mitigating the effects of deleterious mutations in genetic diseases. Identifying functionally compensatory gene relationships represents a promising strategy for discovering therapeutic targets in inherited genetic disorders and cancer. We present a novel approach that comb...

Federico García-Criado, J. Pérez-García, E. Rojano et al. · 0 citations
Open access Aug 2026

Proteo‐Metabolomic Profiling of PMM2‐CDG Reveals Dysregulation of Retinoic Acid Synthesis, Myo‐Inositol, and the Hexosamine Pathway

Significant alterations in the retinoic acid synthesis pathway and hexosamine biosynthesis in PMM2‐CDG patient‐derived fibroblasts are identified and an association between intracellular myo‐inositol levels and disease severity is revealed.

Diana Gallego, G. Andreotti, M. Monticelli et al. · 1 citation

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