Search Results

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

Authors: Matsushita-Ishiodori, Yuka; Yamanaka, Kunitoshi; Hashimoto, Hiroshi; Esaki, Masatoshi; Ogura, Teru

Source: Genes to Cells, Volume 14, Number 8, August 2009 , pp. 925-940(16)

Publisher: Blackwell Publishing

Direct evidence for axonal transport defects in a novel mouse model of mutant spastin-induced hereditary spastic paraplegia (HSP) and human HSP patients

Authors: Kasher, Paul R.; De Vos, Kurt J.; Wharton, Stephen B.; Manser, Catherine; Bennett, Ellen J.; Bingley, Megan; Wood, Jonathan D.; Milner, Roy; McDermott, Christopher J.; Miller, Christopher C. J.; Shaw, Pamela J.; Grierson, Andrew J.

Source: Journal of Neurochemistry, Volume 110, Number 1, July 2009 , pp. 34-44(11)

Publisher: Blackwell Publishing

Four novel SPG3A/atlastin mutations identified in autosomal dominant hereditary spastic paraplegia kindreds with intra-familial variability in age of onset and complex phenotype

Authors: Smith; Bevan; Vance; Renwick; Wilkinson; Proukakis; Squitieri; Berardelli; Warner; Reid; Shaw

Source: Clinical Genetics, Volume 75, Number 5, May 2009 , pp. 485-489(5)

Publisher: Blackwell Publishing

Pleiotropic effects of spastin on neurite growth depending on expression levels

Authors: Riano, Elena; Martignoni, Monica; Mancuso, Giuseppe; Cartelli, Daniele; Crippa, Francesca; Toldo, Irene; Siciliano, Gabriele; Di Bella, Daniela; Taroni, Franco; Bassi, Maria Teresa; Cappelletti, Graziella; Rugarli, Elena I.

Source: Journal of Neurochemistry, Volume 108, Number 5, March 2009 , pp. 1277-1288(12)

Publisher: Blackwell Publishing

Spastin Couples Microtubule Severing to Membrane Traffic in Completion of Cytokinesis and Secretion

Authors: Connell, James W.; Lindon, Catherine; Luzio, J. Paul; Reid, Evan

Source: Traffic, Volume 10, Number 1, January 2009 , pp. 42-56(15)

Publisher: Blackwell Publishing

Novel SPG3A and SPG4 mutations in dominant spastic paraplegia families

Authors: Loureiro, J. L.; Miller-Fleming, L.; Thieleke-Matos, C.; Magalhães, P.; Cruz, V. T.; Coutinho, P.; Sequeiros, J.; Silveira, I.

Source: Acta Neurologica Scandinavica, Volume 119, Number 2, February 2009 , pp. 113-118(6)

Publisher: Blackwell Publishing

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

Authors: Pantakani, D. V. Krishna; Swapna, Lakshmipuram S.; Srinivasan, Narayanaswamy; Mannan, Ashraf U.

Source: Journal of Neurochemistry, Volume 106, Number 2, July 2008 , pp. 613-624(12)

Publisher: Blackwell Publishing

Compound heterozygosity in the SPG4 gene causes hereditary spastic paraplegia

Authors: Pantakani; Zechner; Arygriou; Pauli; Sauter; Mannan

Source: Clinical Genetics, Volume 73, Number 3, March 2008 , pp. 268-272(5)

Publisher: Blackwell Publishing

Isoform-specific increase of spastin stability by N-terminal missense variants including intragenic modifiers of SPG4 hereditary spastic paraplegia

Authors: Schickel, J.; Pamminger, T.; Ehrsam, A.; Münch, S.; Huang, X.; Klopstock, T.; Kurlemann, G.; Hemmerich, P.; Dubiel, W.; Deufel, T.; Beetz, C.

Source: European Journal of Neurology, Volume 14, Number 12, December 2007 , pp. 1322-1328(7)

Publisher: Blackwell Publishing

AAA+ ATPases: Achieving Diversity of Function with Conserved Machinery

Authors: White, Susan Roehl; Lauring, Brett

Source: Traffic, Volume 8, Number 12, December 2007 , pp. 1657-1667(11)

Publisher: Blackwell Publishing

Analysis and mapping of CACNB4, CHRNA1, KCNJ3, SCN2A and SPG4, physiological candidate genes for porcine congenital progressive ataxia and spastic paresis

Authors: Genini, S.; Kratzsch, A.; Korczak, B.; Neuenschwander, S.; Brenig, B.; Jörg, H.; Bürgi, E.; Ossent, P.; Stranzinger, G.; Vögeli, P.

Source: Journal of Animal Breeding and Genetics, Volume 124, Number 5, October 2007 , pp. 269-276(8)

Publisher: Blackwell Publishing

A de novo SPAST mutation leading to somatic mosaicism is associated with a later age at onset in HSP

Authors: Depienne, Christel; Fedirko, Estelle; Faucheux, Jean-Marc; Forlani, Sylvie; Bricka, Bernard; Goizet, Cyril; Lesourd, Sylvie; Stevanin, Giovanni; Ruberg, Merle; Durr, Alexandra; Brice, Alexis

Source: Neurogenetics, Volume 8, Number 3, August 2007 , pp. 231-233(3)

Publisher: Springer

A mutation of spastin is responsible for swellings and impairment of transport in a region of axon characterized by changes in microtubule composition

Authors: Tarrade, Anne; Fassier, Coralie; Charvin, Delphine; Vitte, Jérémie; Peris, Leticia; Thorel, Alain; Mouisel, Etienne; Fonknechten, Nuria; Roblot, Natacha; Seilhean, Danielle; Diérich, Andrée; Hauw, Jean Jacques; Melki, Judith

Source: Human Molecular Genetics, Volume 15, Number 24, 15 December 2006 , pp. 3544-3558(15)

Publisher: Oxford University Press

Spastin gene mutations in Bulgarian patients with hereditary spastic paraplegia

Authors: Ivanova; Löfgren; Tournev; Rousev; Andreeva; Jordanova; Georgieva; Deconinck; Timmerman; Kremensky; De Jonghe,; Mitev

Source: Clinical Genetics, Volume 70, Number 6, December 2006 , pp. 490-495(6)

Publisher: Blackwell Publishing

The microtubule-severing protein Spastin is essential for axon outgrowth in the zebrafish embryo

Authors: Wood, Jonathan D.; Landers, Jennifer A.; Bingley, Megan; McDermott, Christopher J.; Thomas-McArthur, Vickie; Gleadall, Lisa J.; Shaw, Pamela J.; Cunliffe, Vincent T.

Source: Human Molecular Genetics, Volume 15, Number 18, 15 September 2006 , pp. 2763-2771(9)

Publisher: Oxford University Press

Axonal Transport of Microtubules: the Long and Short of It

Authors: Baas, Peter W.; Vidya Nadar, C.; Myers, Kenneth A.

Source: Traffic, Volume 7, Number 5, May 2006 , pp. 490-498(9)

Publisher: Blackwell Publishing

Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partners

Authors: Sanderson, Christopher M.; Connell, James W.; Bright, Nicholas A.; Duley, Simon; Thompson, Amanda; Luzio, J. Paul; Reid, Evan

Source: Human Molecular Genetics, Volume 15, Number 2, 15 January 2006 , pp. 307-318(12)

Publisher: Oxford University Press

Human spastin has multiple microtubule-related functions

Authors: Salinas, Sara; Carazo-Salas, Rafael E.; Proukakis, Christos; Cooper, J. Mark; Weston, Anne E.; Schiavo, Giampietro; Warner, Thomas T.

Source: Journal of Neurochemistry, Volume 95, Number 5, December 2005 , pp. 1411-1420(10)

Publisher: Blackwell Publishing

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

Authors: Reid, Evan; Connell, James; Duley, Simon; Brown, Stephanie E.; Sanderson, Christopher M.

Source: Human Molecular Genetics, Volume 14, Number 1, 1 January 2005 , pp. 19-38(20)

Publisher: Oxford University Press

Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations

Authors: Svenson, Ingrid; Kloos, Mark; Gaskell, P.; Nance, Martha; Garbern, James; Hisanaga, Shin-ichi; Pericak-Vance, Margaret; Ashley-Koch, Allison; Marchuk, Douglas

Source: Neurogenetics, Volume 5, Number 3, September 2004 , pp. 157-164(8)

Publisher: Springer