Ontology highlight
ABSTRACT:
SUBMITTER: Yamazaki T
PROVIDER: S-EPMC3483417 | biostudies-literature | 2012 Oct
REPOSITORIES: biostudies-literature
Yamazaki Tomohiro T Chen Shi S Yu Yong Y Yan Biao B Haertlein Tyler C TC Carrasco Monica A MA Tapia Juan C JC Zhai Bo B Das Rita R Lalancette-Hebert Melanie M Sharma Aarti A Chandran Siddharthan S Sullivan Gareth G Nishimura Agnes Lumi AL Shaw Christopher E CE Gygi Steve P SP Shneider Neil A NA Maniatis Tom T Reed Robin R
Cell reports 20120927 4
Mutations in the RNA binding protein FUS cause amyotrophic lateral sclerosis (ALS), a fatal adult motor neuron disease. Decreased expression of SMN causes the fatal childhood motor neuron disorder spinal muscular atrophy (SMA). The SMN complex localizes in both the cytoplasm and nuclear Gems, and loss of Gems is a cellular hallmark of fibroblasts in patients with SMA. Here, we report that FUS associates with the SMN complex, mediated by U1 snRNP and by direct interactions between FUS and SMN. Fu ...[more]