Ontology highlight
ABSTRACT:
SUBMITTER: Antoine M
PROVIDER: S-EPMC6957872 | biostudies-literature | 2019 Dec
REPOSITORIES: biostudies-literature
Antoine Marie M Patrick Kristin L KL Soret Johann J Duc Pauline P Rage Florence F Cacciottolo Rebecca R Nissen Kelly E KE Cauchi Ruben J RJ Krogan Nevan J NJ Guthrie Christine C Gachet Yannick Y Bordonné Rémy R
iScience 20191228 1
Spinal muscular atrophy (SMA) is a devastating motor neuron disorder caused by mutations in the survival motor neuron (SMN) gene. It remains unclear how SMN deficiency leads to the loss of motor neurons. By screening Schizosaccharomyces pombe, we found that the growth defect of an SMN mutant can be alleviated by deletion of the actin-capping protein subunit gene acp1<sup>+</sup>. We show that SMN mutated cells have splicing defects in the profilin gene, which thus directly hinder actin cytoskele ...[more]