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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Bibliographic Details
Main Authors: Dirk Bäumer, Sheena Lee, George Nicholson, Joanna L Davies, Nicholas J Parkinson, Lyndsay M Murray, Thomas H Gillingwater, Olaf Ansorge, Kay E Davies, Kevin Talbot
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2009-12-01
Series:PLoS Genetics
Online Access:http://europepmc.org/articles/PMC2787017?pdf=render