David Pentón

This study uses isogenic brain organoids to identify early neurodevelopmental changes and hyperexcitability in Gaucher disease, linking lipid dysregulation and neuronal function imbalances to clinical symptoms.

The paper develops a hybrid sequencing strategy combining short-read and long-read methods to enhance genotype-phenotype analysis at single-cell resolution.

This study uses patient-derived neurons to show mitochondrial dysfunction in MMA leads to neuronal exhaustion and altered excitability.

This study establishes an adrenocortical cell model to modulate sodium entry and calcium signaling, revealing its role in aldosterone biosynthesis and PA development.