An induced pluripotent stem cell-based chemical genetic approach for studying spinal muscular atrophy.

ABSTRACT: Spinal muscular atrophy (SMA) is a genetic disease characterized by degeneration of spinal cord motor neurons and neuromuscular junctions. Despite recent development in therapies for SMA, treatment efficacy largely relies on administration of drugs early in disease progression and is impacted by underlying patient genetics. Drug discovery for other diseases of the central nervous system (CNS) has also been hindered by heterogeneity in patient genetics and clinical presentations, as well as the need for early intervention. To address these hurdles, we utilized a chemical genetic-based screening approach to adapt the Connectivity Map (CMAP)/L1000 platform to study SMA. To do this, we differentiated moderate and severe SMA patient-specific induced pluripotent stem cells into neuronal cells ut

SUBMITTER: Giadone RM 

PROVIDER: S-EPMC12637412 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature