Shih‐hsin Kan

This study genetically corrects iPSC-derived neural stem cells to deliver a modified NAGLU enzyme, reducing disease pathology in Sanfilippo B mice.

This paper generates and characterizes a Gaa c.1935C>A knock-in mouse model of infantile-onset Pompe disease, showing reduced GAA activity, glycogen accumulation, and cardiac hypertrophy.

This study shows that rhNAGLU-IGF2 treatment improves disease markers, behavior, and survival in Sanfilippo B mice and dogs.

This paper describes a CRISPR-Cas9-generated murine model of infantile-onset Pompe Disease that exhibits early-onset hypertrophic cardiomyopathy and skeletal muscle weakness similar to the human condition.