Judith R. Reinhard

This paper describes a dual AAV gene therapy approach using linker proteins to restore basement membrane function in LAMA2 MD, showing significant improvements in muscle and nerve defects.

This study shows that laminin-α2 secreted by muscle stem cells is critical for their expansion and regeneration, and its loss leads to muscle stem cell dysfunction in LAMA2-related muscular dystrophy.

The paper shows mini-agrin prevents calcium leakage and restores the dystrophin complex in dystrophic muscle cells by stabilizing CaV1.1 and reconstituting dystrophin complex components.

This study shows that expressing two linker proteins in mouse models of LAMA2-related muscular dystrophy improves muscle function and prevents hindlimb paralysis.