Article

Patient-specific responses to <i>SMN2</i> splice-modifying treatments in spinal muscular atrophy fibroblasts

2024-07-24

Abstract excerpt

The availability of three therapies for the neuromuscular disease spinal muscular atrophy (SMA) highlights the need to match patients to the optimal treatment. Two of these treatments (nusinersen and risdiplam) target splicing of SMN2 , but treatment outcomes vary from patient to patient. An incomplete understanding of the complex interactions between SMA genetics, SMN protein and mRNA levels, and gene-targeting...

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Literature Corpus work: ba0a76fc-ea2a-5b3d-8736-07033270d4c9
DOI: 10.1101/2024.07.24.604892

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