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Splicing regulation in spinal muscular atrophy by a RNA structure formed by long distance interactions

Humans carry two copies of Survival Motor Neuron gene: SMN1 and SMN2. Loss of SMN1 coupled with skipping of SMN2 exon 7 causes spinal muscular atrophy (SMA), a leading genetic disease associated with infant mortality. Our discovery of intronic splicing silencer N1 (ISS-N1) is a promising target, cur...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Ann N Y Acad Sci
Prif Awduron: Singh, Natalia N., Lee, Brian M., Singh, Ravindra N.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2015
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4651915/
https://ncbi.nlm.nih.gov/pubmed/25727246
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/nyas.12727
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