Javier Alonso

The paper identifies LMO7 as a fusion-regulated driver of metastasis in Ewing sarcoma using spatial transcriptomics and integrates clinical data to show its association with poor outcomes.

This study investigates how Z-AAT accumulation in AATD models affects lipid metabolism, mitochondrial function, and organelle homeostasis, revealing impaired adaptive responses to lipid challenges.

The paper identifies de novo EHMT2 variants causing an autosomal dominant Kleefstra syndrome by impairing G9a methyltransferase activity, mimicking EHMT1 haploinsufficiency.

This study identifies EXO1 as essential for Ewing sarcoma cell survival and shows its role in preventing genome instability and cell death by facilitating MiDAS.

This study identifies cIAP1 as a tumor suppressor in Ewing sarcoma, showing that its re-expression inhibits proliferation and tumor growth in vitro and in vivo.

This study models EWS::FLI1 fluctuations in Ewing sarcoma, showing that partial depletion promotes metastasis and identifies gene clusters and transcription factors linked to poor prognosis.

This study identifies GLRX3 as a vulnerability in Ewing sarcoma driven by EWSR1::FLI1 fusion oncoproteins, showing its role in oxidative stress and iron homeostasis and potential therapeutic targeting.

The paper identifies a de novo EHMT2 mutation causing a Kleefstra-like syndrome by reducing enzyme activity and altering epigenetic profiles.

The paper presents a multi-omics cell line atlas for Ewing sarcoma, identifying new target genes and regulatory mechanisms of EWSR1-ETS fusion oncogenes.