Alternative Splicing Events Are a Late Feature of Pathology in a Mouse Model of Spinal Muscular Atrophy

Spinal muscular atrophy is a severe motor neuron disease caused by inactivating mutations in the SMN1 gene leading to reduced levels of full-length functional SMN protein. SMN is a critical mediator of spliceosomal protein assembly, and complete loss or drastic reduction in protein leads to loss of...

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Autors principals: Bäumer, Dirk, Lee, Sheena, Nicholson, George, Davies, Joanna L., Parkinson, Nicholas J., Murray, Lyndsay M., Gillingwater, Thomas H., Ansorge, Olaf, Davies, Kay E., Talbot, Kevin
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2009
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Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2787017/
https://ncbi.nlm.nih.gov/pubmed/20019802
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1000773
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