Publications

The DMD gene, which encodes the protein dystrophin, is involved in a group of diseases known as dystrophinopathies, which includes Duchenne Muscular Dystrophy (DMD). DMD is a progressive and lethal muscular disorder mainly affecting boys that results from the loss of function of the longer dystro...

West Nile virus (WNV) is a mosquito-borne virus that causes severe neurological disease in humans. Despite substantial advances, our knowledge of the mechanisms involved in damaging the human brain is still limited. To address this gap, we developed a physiologically relevant in vitro model using...

Myotonic dystrophy type 1 (DM1) is a multisystemic neuromuscular disorder characterized by CTG repeat expansion in the 3' untranslated region of the dystrophia myotonica protein kinase coding gene. The presence of expanded CTG repeats in DMPK mRNAs leads to the sequestration of RNA-binding factor...

The development of therapies for rare diseases (RDs) continues to face persistent challenges, including small and geographically dispersed patient populations, pronounced clinical heterogeneity, and the absence of standardized outcome measures. Basket trials-master protocol studies evaluating a s...

Engineering tissues with precise, long-lasting shapes and the capability for mechanical stimulation remains challenging. This study addresses this challenge by developing a next-generation magnetic bioprinting approach to create anisotropic, shape-controlled, scaffold-free, and stretchable skelet...

Glycogen storage disease type II (GSDII), or Pompe disease, is a rare autosomal recessive metabolic disorder characterized by the deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA). GAA deficiency results in the progressive accumulation of glycogen in cardiac and skeletal muscle tiss...