Genomes and Genes
Gene Symbol: Spast
Alias: Spg4, spastin, spastic paraplegia 4 (autosomal dominant, spastic paraplegia 4 (autosomal dominant; spastin)
- Lacroix B, Van Dijk J, Gold N, Guizetti J, Aldrian Herrada G, Rogowski K, et al. Tubulin polyglutamylation stimulates spastin-mediated microtubule severing. J Cell Biol. 2010;189:945-54 pubmed publisher..In human cells, the generation of long side chains induces spastin-dependent microtubule disassembly and, consistently, only microtubules modified by long glutamate side chains are ..
- Goyal U, RenvoisÃ© B, Chang J, Blackstone C. Spastin-interacting protein NA14/SSNA1 functions in cytokinesis and axon development. PLoS ONE. 2014;9:e112428 pubmed publisher..The most frequent form of autosomal dominant HSP results from mutations of the SPG4 gene product spastin. This is an ATPase associated with diverse cellular activities (AAA) protein that binds to and severs ..
- Valenstein M, Roll Mecak A. Graded Control of Microtubule Severing by Tubulin Glutamylation. Cell. 2016;164:911-21 pubmed publisher..we find that glutamylation is the main regulator of the hereditary spastic paraplegia microtubule severing enzyme spastin. Glutamylation acts as a rheostat and tunes microtubule severing as a function of glutamate number added per ..
- Mead S, Proukakis C, Wood N, Crosby A, Plant G, Warner T. A large family with hereditary spastic paraparesis due to a frame shift mutation of the spastin (SPG4) gene: association with multiple sclerosis in two affected siblings and epilepsy in other affected family members. J Neurol Neurosurg Psychiatry. 2001;71:788-91 pubmed..Genetic analysis of the family has shown linkage to chromosome 2p and sequencing of the spastin gene has identified a 1406delT frameshift mutation in exon 10...
- Vietri M, Schink K, Campsteijn C, Wegner C, Schultz S, Christ L, et al. Spastin and ESCRT-III coordinate mitotic spindle disassembly and nuclear envelope sealing. Nature. 2015;522:231-5 pubmed publisher..Subsequent association of another ESCRT-III-like protein, IST1, directly recruits the AAA ATPase spastin to sever microtubules...
- Chang J, Lee S, Blackstone C. Protrudin binds atlastins and endoplasmic reticulum-shaping proteins and regulates network formation. Proc Natl Acad Sci U S A. 2013;110:14954-9 pubmed publisher..encoding proteins that function in tubular endoplasmic reticulum (ER) network formation: atlastin-1 (SPG3A), spastin (SPG4), reticulon 2 (SPG12), and receptor expression-enhancing protein 1 (SPG31)...
- Guizetti J, Schermelleh L, Mäntler J, Maar S, Poser I, Leonhardt H, et al. Cortical constriction during abscission involves helices of ESCRT-III-dependent filaments. Science. 2011;331:1616-20 pubmed publisher..Simultaneous spastin-mediated removal of underlying microtubules enabled full constriction at the abscission site...
- Kasher P, De Vos K, Wharton S, Manser C, Bennett E, Bingley M, et al. Direct evidence for axonal transport defects in a novel mouse model of mutant spastin-induced hereditary spastic paraplegia (HSP) and human HSP patients. J Neurochem. 2009;110:34-44 pubmed publisherMutations in spastin are the most common cause of hereditary spastic paraplegia (HSP) but the mechanisms by which mutant spastin induces disease are not clear...