Publications

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...

AAV-based gene therapy represents an attractive treatment for hereditary peripheral neuropathies Charcot-Marie-Tooth diseases. We recently showed that AAV2/9 vector-expressing GFP, locally injected into mouse and rat sciatic nerves, transduced a large amount of myelinating Schwann cells (mSCs). T...