TIA1 is a gender-specific disease modifier of a mild mouse model of spinal muscular atrophy

Abstract Spinal muscular atrophy (SMA) is caused by deletions or mutations of Survival Motor Neuron 1 (SMN1) gene. The nearly identical SMN2 cannot compensate for SMN1 loss due to exon 7 skipping. The allele C (C +/+) mouse recapitulates a mild SMA-like phenotype and offers an ideal system to monito...

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Bibliographic Details
Main Authors: Matthew D. Howell, Eric W. Ottesen, Natalia N. Singh, Rachel L. Anderson, Joonbae Seo, Senthilkumar Sivanesan, Elizabeth M. Whitley, Ravindra N. Singh
Format: Article
Language:English
Published: Nature Publishing Group 2017-08-01
Series:Scientific Reports
Online Access:https://doi.org/10.1038/s41598-017-07468-2