Gene Review:
SPAST - spastin
Homo sapiens
Synonyms:
ADPSP, FSP2, KIAA1083, SPG4, Spastic paraplegia 4 protein, ...
Connell,
Rauber,
van den Berg,
Shaw,
Johnson,
Ince,
Pan,
Boehm,
Lusher,
Loveless,
Brugman,
Rosen,
Sistermans,
Turnbull,
Mannan,
Sanderson,
McDermott,
Taylor,
Wharton,
Gelsthorpe,
McDermott,
Wokke,
Neesen,
Brown,
Bushby,
Giuseppe Mancuso,
Elena I. Rugarli,
Tomkins,
Casari,
McDermott,
Zi,
Goswami,
Duley,
Edwards,
Tang,
Xia,
Wood,
Versteeg,
Turnbull,
Jiang,
Shen,
Nee,
Zhao,
Reid,
Johnson,
Grierson,
Sauter,
Dayaratne,
Lindsey,
Dai,
Hayes,
Byrne,
Higgins,
Engel,
Shaw,
Shaw,
De Biase,
Bushby,
Cozzo,
Scheffer,
Long,
Luo,
- High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia. Beetz, C., Nygren, A.O., Schickel, J., Auer-Grumbach, M., B??rk, K., Heide, G., Kassubek, J., Klimpe, S., Klopstock, T., Kreuz, F., Otto, S., Sch??le, R., Sch??ls, L., Sperfeld, A.D., Witte, O.W., Deufel, T. Neurology (2006)
- Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia. Dürr, A., Camuzat, A., Colin, E., Tallaksen, C., Hannequin, D., Coutinho, P., Fontaine, B., Rossi, A., Gil, R., Rousselle, C., Ruberg, M., Stevanin, G., Brice, A. Arch. Neurol. (2004)
- Spastin and paraplegin gene analysis in selected cases of motor neurone disease (MND). McDermott, C.J., Roberts, D., Tomkins, J., Bushby, K.M., Shaw, P.J. Amyotroph. Lateral Scler. Other Motor Neuron Disord. (2003)
- Spastin mutations in sporadic adult-onset upper motor neuron syndromes. Brugman, F., Wokke, J.H., Scheffer, H., Versteeg, M.H., Sistermans, E.A., van den Berg, L.H. Ann. Neurol. (2005)
- A cryptic promoter in the first exon of the SPG4 gene directs the synthesis of the 60-kDa spastin isoform. Mancuso, G., Rugarli, E.I. BMC Biol. (2008)
- Mapping of a complicated familial spastic paraplegia to locus SPG4 on chromosome 2p. Heinzlef, O., Paternotte, C., Mahieux, F., Prud'homme, J.F., Dien, J., Madigand, M., Pouget, J., Weissenbach, J., Roullet, E., Hazan, J. J. Med. Genet. (1998)
- SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia. Patel, H., Cross, H., Proukakis, C., Hershberger, R., Bork, P., Ciccarelli, F.D., Patton, M.A., McKusick, V.A., Crosby, A.H. Nat. Genet. (2002)
- Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia. Zhao, X., Alvarado, D., Rainier, S., Lemons, R., Hedera, P., Weber, C.H., Tukel, T., Apak, M., Heiman-Patterson, T., Ming, L., Bui, M., Fink, J.K. Nat. Genet. (2001)
- Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia. Hazan, J., Fonknechten, N., Mavel, D., Paternotte, C., Samson, D., Artiguenave, F., Davoine, C.S., Cruaud, C., Dürr, A., Wincker, P., Brottier, P., Cattolico, L., Barbe, V., Burgunder, J.M., Prud'homme, J.F., Brice, A., Fontaine, B., Heilig, B., Weissenbach, J. Nat. Genet. (1999)
- Three novel mutations of the spastin gene in Chinese patients with hereditary spastic paraplegia. Tang, B., Zhao, G., Xia, K., Pan, Q., Luo, W., Shen, L., Long, Z., Dai, H., Zi, X., Jiang, H. Arch. Neurol. (2004)
- Mutation analysis of SPG4 and SPG3A genes and its implication in molecular diagnosis of Korean patients with hereditary spastic paraplegia. Park, S.Y., Ki, C.S., Kim, H.J., Kim, J.W., Sung, D.H., Kim, B.J., Lee, W.Y. Arch. Neurol. (2005)
- Investigation of mitochondrial function in hereditary spastic paraparesis. McDermott, C.J., Taylor, R.W., Hayes, C., Johnson, M., Bushby, K.M., Turnbull, D.M., Shaw, P.J. Neuroreport (2003)
- An atypical intronic deletion widens the spectrum of mutations in hereditary spastic paraplegia. Higgins, J.J., Loveless, J.M., Goswami, S., Nee, L.E., Cozzo, C., De Biase, A., Rosen, D.R. Neurology (2001)
- Hereditary spastic paraplegia: LOD-score considerations for confirmation of linkage in a heterogeneous trait. Dubé, M.P., Mlodzienski, M.A., Kibar, Z., Farlow, M.R., Ebers, G., Harper, P., Kolodny, E.H., Rouleau, G.A., Figlewicz, D.A. Am. J. Hum. Genet. (1997)
- Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics. Errico, A., Ballabio, A., Rugarli, E.I. Hum. Mol. Genet. (2002)
- Mutations of SPG4 are responsible for a loss of function of spastin, an abundant neuronal protein localized in the nucleus. Charvin, D., Cifuentes-Diaz, C., Fonknechten, N., Joshi, V., Hazan, J., Melki, J., Betuing, S. Hum. Mol. Genet. (2003)
- The hereditary spastic paraplegia protein spastin interacts with the ESCRT-III complex-associated endosomal protein CHMP1B. Reid, E., Connell, J., Edwards, T.L., Duley, S., Brown, S.E., Sanderson, C.M. Hum. Mol. Genet. (2005)
- Novel spastin mutations and their expression analysis in two Italian families. Molon, A., Montagna, P., Angelini, C., Pegoraro, E. Eur. J. Hum. Genet. (2003)
- Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations. Svenson, I.K., Kloos, M.T., Gaskell, P.C., Nance, M.A., Garbern, J.Y., Hisanaga, S., Pericak-Vance, M.A., Ashley-Koch, A.E., Marchuk, D.A. Neurogenetics (2004)
- CAG repeat expansion in autosomal dominant pure spastic paraplegia linked to chromosome 2p21-p24. Nielsen, J.E., Koefoed, P., Abell, K., Hasholt, L., Eiberg, H., Fenger, K., Niebuhr, E., Sørensen, S.A. Hum. Mol. Genet. (1997)
- Spectrum of SPG4 mutations in a large collection of North American families with hereditary spastic paraplegia. Meijer, I.A., Hand, C.K., Cossette, P., Figlewicz, D.A., Rouleau, G.A. Arch. Neurol. (2002)
- Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partners. Sanderson, C.M., Connell, J.W., Edwards, T.L., Bright, N.A., Duley, S., Thompson, A., Luzio, J.P., Reid, E. Hum. Mol. Genet. (2006)
- Spastin, the most commonly mutated protein in hereditary spastic paraplegia interacts with Reticulon 1 an endoplasmic reticulum protein. Mannan, A.U., Boehm, J., Sauter, S.M., Rauber, A., Byrne, P.C., Neesen, J., Engel, W. Neurogenetics (2006)
- Interaction of two hereditary spastic paraplegia gene products, spastin and atlastin, suggests a common pathway for axonal maintenance. Evans, K., Keller, C., Pavur, K., Glasgow, K., Conn, B., Lauring, B. Proc. Natl. Acad. Sci. U.S.A. (2006)
- CAG repeat expansion in autosomal dominant familial spastic paraparesis: novel expansion in a subset of patients. Benson, K.F., Horwitz, M., Wolff, J., Friend, K., Thompson, E., White, S., Richards, R.I., Raskind, W.H., Bird, T.D. Hum. Mol. Genet. (1998)
- Paraplegin gene analysis in hereditary spastic paraparesis (HSP) pedigrees in northeast England. McDermott, C.J., Dayaratne, R.K., Tomkins, J., Lusher, M.E., Lindsey, J.C., Johnson, M.A., Casari, G., Turnbull, D.M., Bushby, K., Shaw, P.J. Neurology (2001)
- The cellular and molecular pathology of the motor system in hereditary spastic paraparesis due to mutation of the spastin gene. Wharton, S.B., McDermott, C.J., Grierson, A.J., Wood, J.D., Gelsthorpe, C., Ince, P.G., Shaw, P.J. J. Neuropathol. Exp. Neurol. (2003)
- The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia. Ciccarelli, F.D., Proukakis, C., Patel, H., Cross, H., Azam, S., Patton, M.A., Bork, P., Crosby, A.H. Genomics (2003)
- Two novel mutations in the spastin gene (SPG4) found by DHPLC mutation analysis. Falco, M., Scuderi, C., Musumeci, S., Sturnio, M., Neri, M., Bigoni, S., Caniatti, L., Fichera, M. Neuromuscul. Disord. (2004)