Ontology highlight
ABSTRACT:
SUBMITTER: Connell JW
PROVIDER: S-EPMC7320071 | biostudies-literature | 2020 Jul
REPOSITORIES: biostudies-literature
Connell James W JW Allison Rachel J RJ Rodger Catherine E CE Pearson Guy G Zlamalova Eliska E Reid Evan E
Cellular and molecular life sciences : CMLS 20191005 13
Mutations in the gene encoding the microtubule severing ATPase spastin are the most frequent cause of hereditary spastic paraplegia, a genetic condition characterised by length-dependent axonal degeneration. Here, we show that HeLa cells lacking spastin and embryonic fibroblasts from a spastin knock-in mouse model become highly polarised and develop cellular protrusions. In HeLa cells, this phenotype was rescued by wild-type spastin, but not by forms unable to sever microtubules or interact with ...[more]