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References

These sources were used to develop the Genetics Home Reference gene summary on the SPAST gene.

Claudiani P, Riano E, Errico A, Andolfi G, Rugarli EI. Spastin subcellular localization is regulated through usage of different translation start sites and active export from the nucleus. Exp Cell Res. 2005 Oct 1;309(2):358-69. PubMed citation
Depienne C, Fedirko E, Forlani S, Cazeneuve C, Ribaï P, Feki I, Tallaksen C, Nguyen K, Stankoff B, Ruberg M, Stevanin G, Durr A, Brice A. Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia. J Med Genet. 2007 Apr;44(4):281-4. Epub 2006 Nov 10. PubMed citation
Entrez Gene
OMIM: SPASTIN
Roll-Mecak A, Vale RD. Structural basis of microtubule severing by the hereditary spastic paraplegia protein spastin. Nature. 2008 Jan 17;451(7176):363-7. doi: 10.1038/nature06482. PubMed citation
Salinas S, Carazo-Salas RE, Proukakis C, Schiavo G, Warner TT. Spastin and microtubules: Functions in health and disease. J Neurosci Res. 2007 Sep;85(12):2778-82. Review. PubMed citation
Sanderson CM, Connell JW, Edwards TL, Bright NA, Duley S, Thompson A, Luzio JP, Reid E. Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partners. Hum Mol Genet. 2006 Jan 15;15(2):307-18. Epub 2005 Dec 8. PubMed citation
Yip AG, Dürr A, Marchuk DA, Ashley-Koch A, Hentati A, Rubinsztein DC, Reid E. Meta-analysis of age at onset in spastin-associated hereditary spastic paraplegia provides no evidence for a correlation with mutational class. J Med Genet. 2003 Sep;40(9):e106. PubMed citation

Reviewed: January 2008

Published: May 20, 2013