Sofia Benkhelifa‐Ziyyat

This study identifies GDF5 as a protective factor in ALS by restoring SMAD signaling and preserving motor unit integrity through gene delivery in a mouse model.

This study identifies endosomal pathway dysfunction in DMD muscle cells and shows that Rab5 upregulation contributes to endosomal defects, which can be mitigated by Rab5 knock-down or dystrophin restoration.

The paper profiles the transcriptome of bone and cartilage in SMA patients and mouse models to identify molecular changes contributing to bone pathology.

The paper investigates how the actin-spectrin scaffold in axons regulates clathrin-mediated endocytosis, finding that spectrin clearings restrict pit formation and endocytic activity.

This study shows that clathrin plaques and dynamin 2 anchor desmin intermediate filaments and regulate YAP signaling in skeletal muscle in response to mechanical cues.