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Items: 1 to 20 of 88

1.

The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia.

Ciccarelli FD, Proukakis C, Patel H, Cross H, Azam S, Patton MA, Bork P, Crosby AH.

Genomics. 2003 Apr;81(4):437-41.

PMID:
12676568
2.

SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia.

Patel H, Cross H, Proukakis C, Hershberger R, Bork P, Ciccarelli FD, Patton MA, McKusick VA, Crosby AH.

Nat Genet. 2002 Aug;31(4):347-8. Epub 2002 Jul 22.

PMID:
12134148
3.

ZFYVE27 (SPG33), a novel spastin-binding protein, is mutated in hereditary spastic paraplegia.

Mannan AU, Krawen P, Sauter SM, Boehm J, Chronowska A, Paulus W, Neesen J, Engel W.

Am J Hum Genet. 2006 Aug;79(2):351-7. Epub 2006 Jun 1.

4.

Structural characterization of the MIT domain from human Vps4b.

Takasu H, Jee JG, Ohno A, Goda N, Fujiwara K, Tochio H, Shirakawa M, Hiroaki H.

Biochem Biophys Res Commun. 2005 Aug 26;334(2):460-5.

PMID:
16018968
5.

Hereditary spastic paraparesis: disrupted intracellular transport associated with spastin mutation.

McDermott CJ, Grierson AJ, Wood JD, Bingley M, Wharton SB, Bushby KM, Shaw PJ.

Ann Neurol. 2003 Dec;54(6):748-59.

PMID:
14681884
6.

Hereditary spastic paraplegia: spastin phenotype and function.

Fink JK, Rainier S.

Arch Neurol. 2004 Jun;61(6):830-3. Review. No abstract available.

PMID:
15210518
7.

The hereditary spastic paraplegia protein spartin localises to mitochondria.

Lu J, Rashid F, Byrne PC.

J Neurochem. 2006 Sep;98(6):1908-19.

8.

The hereditary spastic paraplegia protein spastin interacts with the ESCRT-III complex-associated endosomal protein CHMP1B.

Reid E, Connell J, Edwards TL, Duley S, Brown SE, Sanderson CM.

Hum Mol Genet. 2005 Jan 1;14(1):19-38. Epub 2004 Nov 10.

PMID:
15537668
9.

Novel mutation of the Spastin gene in familial spastic paraplegia.

De Bantel A, McWilliams S, Auysh D, Echol C, Sambuughin N, Sivakumar K.

Clin Genet. 2001 May;59(5):364-5. No abstract available.

PMID:
11359470
11.

[Recent progress in genetic study of hereditary spastic paraplegia].

Takano H, Kasuga K, Kobayashi H, Nishizawa M.

No To Shinkei. 2003 Sep;55(9):757-63. Review. Japanese. No abstract available.

PMID:
14571837
12.

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 Jan;61(1):49-55.

PMID:
14732620
13.
14.

Spastin oligomerizes into a hexamer and the mutant spastin (E442Q) redistribute the wild-type spastin into filamentous microtubule.

Pantakani DV, Swapna LS, Srinivasan N, Mannan AU.

J Neurochem. 2008 Jul;106(2):613-24. doi: 10.1111/j.1471-4159.2008.05414.x. Epub 2008 Apr 12.

15.

Vps4 regulates a subset of protein interactions at the multivesicular endosome.

Vajjhala PR, Catchpoole E, Nguyen CH, Kistler C, Munn AL.

FEBS J. 2007 Apr;274(8):1894-907. Epub 2007 Mar 5.

16.

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 Jan 1;12(1):71-8.

PMID:
12490534
17.

A novel insertion mutation in spastin gene is the cause of spastic paraplegia in a Chinese family.

Qin W, Zhang T, Han J, Tang L, Li X, Feng G, Liu W, He L.

J Neurol Sci. 2003 Jun 15;210(1-2):35-9.

PMID:
12736085
18.

The hereditary spastic paraplegia proteins NIPA1, spastin and spartin are inhibitors of mammalian BMP signalling.

Tsang HT, Edwards TL, Wang X, Connell JW, Davies RJ, Durrington HJ, O'Kane CJ, Luzio JP, Reid E.

Hum Mol Genet. 2009 Oct 15;18(20):3805-21. doi: 10.1093/hmg/ddp324. Epub 2009 Jul 20.

19.

Conserved aromatic and basic amino acid residues in the pore region of Caenorhabditis elegans spastin play critical roles in microtubule severing.

Matsushita-Ishiodori Y, Yamanaka K, Hashimoto H, Esaki M, Ogura T.

Genes Cells. 2009 Aug;14(8):925-40. doi: 10.1111/j.1365-2443.2009.01320.x. Epub 2009 Jul 13.

20.

Spastin and microtubules: Functions in health and disease.

Salinas S, Carazo-Salas RE, Proukakis C, Schiavo G, Warner TT.

J Neurosci Res. 2007 Sep;85(12):2778-82. Review.

PMID:
17348041

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