Natalia Rodríguez‐Muela

This study identifies endogenous SMN protein heterogeneity as a determinant of motor neuron vulnerability and resilience, showing that SMN levels dynamically influence neuronal fate in disease models.

The paper uses isogenic cortical organoids to identify variant-specific pathogenic pathways in Alzheimer's disease and demonstrates targeted interventions that restore neuronal survival.

The paper shows that TFEB activation restores lysosomal function and improves motor neuron survival in SMA, highlighting its potential as a therapeutic target.

The paper introduces a method to generate spinal motor neurons with diverse axial identities in human spinal cord organoids, enhancing their utility for studying neural development and disease.

The paper shows that Ngfr promotes neurogenesis and reduces amyloid pathology in AD mouse models by suppressing Lcn2/Slc22a17 signaling.

This study uses an isogenic human iPSC model to show altered neural progenitor and motor neuron markers in SMA, suggesting developmental defects may contribute to neuronal death.

This study corrects a 140 kb genomic inversion in the F8 gene using a designer recombinase system, restoring Factor VIII mRNA expression in patient-derived cells.