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Items: 1 to 20 of 103


The effect of HSP-causing mutations in SPG3A and NIPA1 on the assembly, trafficking, and interaction between atlastin-1 and NIPA1.

Botzolakis EJ, Zhao J, Gurba KN, Macdonald RL, Hedera P.

Mol Cell Neurosci. 2011 Jan;46(1):122-35. doi: 10.1016/j.mcn.2010.08.012. Epub 2010 Sep 21.


Hereditary spastic paraplegia-causing mutations in atlastin-1 interfere with BMPRII trafficking.

Zhao J, Hedera P.

Mol Cell Neurosci. 2013 Jan;52:87-96. doi: 10.1016/j.mcn.2012.10.005. Epub 2012 Oct 16.


Hereditary spastic paraplegia-associated mutations in the NIPA1 gene and its Caenorhabditis elegans homolog trigger neural degeneration in vitro and in vivo through a gain-of-function mechanism.

Zhao J, Matthies DS, Botzolakis EJ, Macdonald RL, Blakely RD, Hedera P.

J Neurosci. 2008 Dec 17;28(51):13938-51. doi: 10.1523/JNEUROSCI.4668-08.2008.


SPG3A protein atlastin-1 is enriched in growth cones and promotes axon elongation during neuronal development.

Zhu PP, Soderblom C, Tao-Cheng JH, Stadler J, Blackstone C.

Hum Mol Genet. 2006 Apr 15;15(8):1343-53. Epub 2006 Mar 14.


TDP-43 pathology in a case of hereditary spastic paraplegia with a NIPA1/SPG6 mutation.

Martinez-Lage M, Molina-Porcel L, Falcone D, McCluskey L, Lee VM, Van Deerlin VM, Trojanowski JQ.

Acta Neuropathol. 2012 Aug;124(2):285-91.


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 Jul 11;103(28):10666-71. Epub 2006 Jun 30.


Normal dopaminergic nigrostriatal innervation in SPG3A hereditary spastic paraplegia.

Albin RL, Koeppe RA, Rainier S, Fink JK.

J Neurogenet. 2008;22(4):289-94. doi: 10.1080/01677060802337307.


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

Smith BN, Bevan S, Vance C, Renwick P, Wilkinson P, Proukakis C, Squitieri F, Berardelli A, Warner TT, Reid E, Shaw CE.

Clin Genet. 2009 May;75(5):485-9. doi: 10.1111/j.1399-0004.2009.01184.x.


Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A.

Abel A, Fonknechten N, Hofer A, Dürr A, Cruaud C, Voit T, Weissenbach J, Brice A, Klimpe S, Auburger G, Hazan J.

Neurogenetics. 2004 Dec;5(4):239-43. Epub 2004 Oct 28.


Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network.

Park SH, Zhu PP, Parker RL, Blackstone C.

J Clin Invest. 2010 Apr;120(4):1097-110. doi: 10.1172/JCI40979.


Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia.

McCorquodale DS 3rd, Ozomaro U, Huang J, Montenegro G, Kushman A, Citrigno L, Price J, Speziani F, Pericak-Vance MA, Züchner S.

Clin Genet. 2011 Jun;79(6):523-30. doi: 10.1111/j.1399-0004.2010.01501.x.


Atlastin GTPases are required for Golgi apparatus and ER morphogenesis.

Rismanchi N, Soderblom C, Stadler J, Zhu PP, Blackstone C.

Hum Mol Genet. 2008 Jun 1;17(11):1591-604. doi: 10.1093/hmg/ddn046. Epub 2008 Feb 12.


Pharmacologic rescue of axon growth defects in a human iPSC model of hereditary spastic paraplegia SPG3A.

Zhu PP, Denton KR, Pierson TM, Li XJ, Blackstone C.

Hum Mol Genet. 2014 Nov 1;23(21):5638-48. doi: 10.1093/hmg/ddu280. Epub 2014 Jun 6.


Spastin, atlastin, and ER relocalization are involved in axon but not dendrite regeneration.

Rao K, Stone MC, Weiner AT, Gheres KW, Zhou C, Deitcher DL, Levitan ES, Rolls MM.

Mol Biol Cell. 2016 Nov 1;27(21):3245-3256. Epub 2016 Sep 7.


NIPA1 mutation in complex hereditary spastic paraplegia with epilepsy.

Svenstrup K, Møller RS, Christensen J, Budtz-Jørgensen E, Gilling M, Nielsen JE.

Eur J Neurol. 2011 Sep;18(9):1197-9. doi: 10.1111/j.1468-1331.2011.03359.x. Epub 2011 Feb 22.


Fusing a lasting relationship between ER tubules.

Moss TJ, Daga A, McNew JA.

Trends Cell Biol. 2011 Jul;21(7):416-23. doi: 10.1016/j.tcb.2011.03.009. Epub 2011 May 6. Review.


Pathogenesis of autosomal dominant hereditary spastic paraplegia (SPG6) revealed by a rat model.

Watanabe F, Arnold WD, Hammer RE, Ghodsizadeh O, Moti H, Schumer M, Hashmi A, Hernandez A, Sneh A, Sahenk Z, Kisanuki YY.

J Neuropathol Exp Neurol. 2013 Nov;72(11):1016-28. doi: 10.1097/NEN.0000000000000000. Erratum in: J Neuropathol Exp Neurol. 2014 Feb;73(2):190.


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

Sanderson CM, Connell JW, Edwards TL, Bright NA, Duley S, Thompson A, Luzio JP, Reid E.

Hum Mol Genet. 2006 Jan 15;15(2):307-18. Epub 2005 Dec 8.


Atlastin-1, the dynamin-like GTPase responsible for spastic paraplegia SPG3A, remodels lipid membranes and may form tubules and vesicles in the endoplasmic reticulum.

Muriel MP, Dauphin A, Namekawa M, Gervais A, Brice A, Ruberg M.

J Neurochem. 2009 Sep;110(5):1607-16. doi: 10.1111/j.1471-4159.2009.06258.x. Epub 2009 Jul 1.


Cellular localization, oligomerization, and membrane association of the hereditary spastic paraplegia 3A (SPG3A) protein atlastin.

Zhu PP, Patterson A, Lavoie B, Stadler J, Shoeb M, Patel R, Blackstone C.

J Biol Chem. 2003 Dec 5;278(49):49063-71. Epub 2003 Sep 23.

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