SMA-Causing Missense Mutations in Survival motor neuron (Smn) Display a Wide Range of Phenotypes When Modeled in Drosophila

Mutations in the human survival motor neuron 1 (SMN) gene are the primary cause of spinal muscular atrophy (SMA), a devastating neuromuscular disorder. SMN protein has a well-characterized role in the biogenesis of small nuclear ribonucleoproteins (snRNPs), core components of the spliceosome. Additi...

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Detalles Bibliográficos
Autores principales: Praveen, Kavita, Wen, Ying, Gray, Kelsey M., Noto, John J., Patlolla, Akash R., Van Duyne, Gregory D., Matera, A. Gregory
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4140637/
https://www.ncbi.nlm.nih.gov/pubmed/25144193
http://dx.doi.org/10.1371/journal.pgen.1004489

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4140637/
https://www.ncbi.nlm.nih.gov/pubmed/25144193
http://dx.doi.org/10.1371/journal.pgen.1004489

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