Branaplam as a Promising Splicing Modulator: From Spinal Muscular Atrophy to Huntington’s Disease
DOI:
https://doi.org/10.46531/sinapse/AR/230005/2023Keywords:
Alternative Splicing, Exons/genetics, Huntington Disease/therapy, Muscular Atrophy, Spinal/ therapy, RNA Splicing/drug effectsAbstract
RNA-targeting splicing modulators have revolutionized modern medicine by allowing reversible regulations of gene expression. Branaplam was the first molecule found to specifically modulate a splicing behaviour at a particular splice site. Originally, branaplam was developed as a splicing modulator for spinal muscular atrophy (SMA), the second most common autosomal recessive disease and the primary cause of genetic infant mortality. More recently, its use in Huntington’s disease (HD), a fatal autosomal dominant neurodegenerative disease with limited symptomatic control, has been investigated. This review comprehensively analyzes branaplam’s development program in both clinical conditions mentioned, projecting some of the aspects that may require further investigation when considering splicing modulators, as a therapeutic class, in these diseases.Downloads
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