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Structural Context of a Critical Exon of Spinal Muscular Atrophy Gene

Humans contain two nearly identical copies of Survival Motor Neuron genes, SMN1 and SMN2. Deletion or mutation of SMN1 causes spinal muscular atrophy (SMA), one of the leading genetic diseases associated with infant mortality. SMN2 is unable to compensate for the loss of SMN1 due to predominant exon...

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Autori principali: Natalia N. Singh, Collin A. O'Leary, Taylor Eich, Walter N. Moss, Ravindra N. Singh
Natura: Artigo
Lingua:Inglês
Pubblicazione: Frontiers Media S.A. 2022-07-01
Serie:Frontiers in Molecular Biosciences
Soggetti:
RNA structure
splicing
small molecule
spinal muscular atrophy
SMA
survival motor neuron
Accesso online:https://www.frontiersin.org/articles/10.3389/fmolb.2022.928581/full
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