The study investigates the role of PIK3C2B in X-linked myotubular myopathy (XLMTM). Pharmacological inhibition of PIK3C2B using BLU3797 restored muscle function, improved survival, and normalized disease-associated molecular markers in MTM1-deficient mouse models. In addition, MTM1-null skeletal muscle cell lines were used to characterize differentiation and molecular pathways.
PIK3C2B inhibition improved survival, restored muscle structure, reduced centralized nuclei, and normalized molecular biomarkers. In cell models, inhibition promoted more mature myofiber differentiation and reduced regeneration-associated signatures.
MTM1-null skeletal muscle cell line — genOway-developed in vitro disease model, used alongside MTM1 knockout mouse models
Neuromuscular disease, XLMTM, muscle regeneration, kinase inhibition, rare disease therapy
MTM1-null cell line generation, differentiation assays in C2C12-derived system, pharmacological inhibition with BLU3797, transcriptomic and microRNA profiling, muscle histology and functional assays in vivo
From model design to experimental results
Featured in 600+ scientific articles
Collaboration with 17 Top Pharmas,
170+ Biotechs and 380+ Academic Institutions
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Models with certified health status from professional breeders in US and Europe
