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Splicing efficiency of minor introns in a mouse model of SMA predominantly depends on their branchpoint sequence and can involve the contribution of major spliceosome components

Spinal muscular atrophy (SMA) is a devastating neurodegenerative disease caused by reduced amounts of the ubiquitously expressed Survival of Motor Neuron (SMN) protein. In agreement with its crucial role in the biogenesis of spliceosomal snRNPs, SMN-deficiency is correlated to numerous splicing alte...

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Detalles Bibliográficos
Autores principales: Jacquier, Valentin, Prévot, Manon, Gostan, Thierry, Bordonné, Rémy, Benkhelifa-Ziyyat, Sofia, Barkats, Martine, Soret, Johann
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8848931/
https://www.ncbi.nlm.nih.gov/pubmed/34893560
http://dx.doi.org/10.1261/rna.078329.120