José Antonio Enrı́quez

This study shows mitochondrial haplogroups affect tumour growth and anti-tumour immunity through mitochondrial ROS and PD-1 signalling in mouse models.

This study shows that butyrate supplementation improves health and extends lifespan in mice with mitochondrial dysfunction by restoring intestinal barrier function and epigenetic marks.

This study identifies Pfkfb3 as essential for astrocytic glycolysis, which preserves cognition by reducing mitochondrial efficiency and redirecting pyruvate to neurons.

This study identifies AXL as a key regulator of cardiac regeneration in axolotls and shows its role in inducing cardiomyocyte dedifferentiation in mammals without cell cycle re-entry.

This study shows that loss of Vhl in astrocytes disrupts astrocyte-endothelial crosstalk, leading to hemangioblastoma formation in VHL disease.

The paper identifies CD74+ microglia/macrophages driven by MIF as clinically relevant subpopulations in brain metastasis and other CNS disorders, showing their role in disease progression and therapeutic targeting potential.

The paper introduces a workflow for analyzing post-translational modifications using proteomics data, revealing new oxidative modifications in animal models.

This study shows TET3 regulates terminal differentiation by affecting mitochondrial metabolic maturation and oxidative phosphorylation in intestinal epithelial cells.

This paper shows that expressing ScURA in mammalian cells allows pyrimidine biosynthesis independent of mitochondrial electron transport, enabling growth in uridine-deficient medium and improving mitochondrial disease models.

This study uses CRISPR/Cas9 screening to identify novel regulators of mitochondrial oxidative metabolism, revealing key genes involved in complex I assembly and BCAA catabolism.

This study identifies ATF4 as a critical regulator of OXPHOS assembly and function by analyzing human and murine cell lines with OXPHOS defects.

This study evaluates using locus variability, measured by Shannon entropy from variant allele frequencies, to predict pathogenic SNVs in mitochondrial and splice-site regions, showing strong performance compared to existing tools.

This study investigates the role of SCAF1 in mitochondrial respiratory supercomplexes in mice, showing its structural role in respirasome formation and its impact on respiration and ROS production.

The paper introduces FCS and FCSMt, two scores for predicting pathogenic variants in nuclear and mitochondrial DNA, achieving high AUC values in validation datasets.

The paper develops algorithms to comprehensively identify and quantify protein modifications, revealing oxidative damage in heart mitochondria due to mtDNA heteroplasmy.