Our group investigates the molecular mechanisms that regulate oxidative phosphorylation (OXPHOS), the main bioenergetic system in eukaryotic cells. This process, located in the inner mitochondrial membrane, is essential for ATP production and cellular homeostasis. Alterations in OXPHOS are implicated in numerous human diseases, including neuromuscular disorders, cardiomyopathies, and degenerative conditions.

Research lines:

• Biogenesis and assembly of OXPHOS complexes: We study how nuclear and mitochondrial factors coordinate to form functional complexes.
• Mutations and mitochondrial pathology: We analyze the impact of genetic variants on respiratory function and their relationship with rare and common diseases.
• Adaptive regulation: We investigate how cells adjust OXPHOS activity in response to metabolic stress, hypoxia, and aging.

Experimental approach: We combine functional genetics, proteomics, gene editing (CRISPR/Cas9), and cellular and animal models to unravel the architecture and dynamics of the OXPHOS system. Our goal is to identify therapeutic targets and biomarkers to improve the diagnosis and treatment of mitochondrial diseases.

Collaborations and outlook: The group maintains collaborations with national and international centers, integrating omics data and computational biology tools to advance personalized medicine in energy-related pathologies.