| 1 | SPAST, SPG4
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| The Alu-Rich Genomic Architecture of SPAST Predisposes to Diverse and Functionally Distinct Disease-Associated CNV Alleles.
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| Boone PM, Yuan B, Campbell IM, Scull JC, Withers MA, Baggett BC, Beck CR, Shaw CJ, Stankiewicz P, Moretti P, Goodwin WE, Hein N, Fink JK, Seong MW, Seo SH, Park SS, Karbassi ID, Batish SD, Ordóñez-Ugalde A, Quintáns B, Sobrido MJ, Stemmler S, Lupski JR.
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| Am J Hum Genet 95(2):143-61. doi: 10.1016/j.ajhg.2014.06.014. Epub 2014 Jul 24.
2014
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| 2 | SPAST
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| An ESCRT-spastin interaction promotes fission of recycling tubules from the endosome.
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| Allison R, Lumb JH, Fassier C, Connell JW, Ten Martin D, Seaman MN, Hazan J, Reid E.
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| J Cell Biol. 202(3):527-43. 2013
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| 3 | SPAST
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| Subunit Interactions and cooperativity in the microtubule-severing AAA ATPase spastin.
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| Eckert T, Link S, Le DT, Sobczak JP, Gieseke A, Richter K, Woehlke G.
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| J Biol Chem 287(31):26278-90. doi: 10.1074/jbc.M111.291898. Epub 2012 May 27.
2012
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| 4 | ELK1, SPAST
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| SPG4 gene promoter regulation via Elk1 transcription factor.
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| Canbaz D, Kırımtay K, Karaca E, Karabay A.
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| J Neurochem 117(4):724-34. doi: 10.1111/j.1471-4159.2011.07243.x. Epub 2011 Apr 6.
2011
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| 5 | SPAST, SPG4
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| Distinct intracellular vesicle transport mechanisms are selectively modified by spastin and spastin mutations.
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| Fuerst JC, Henkel AW, Stroebel A, Welzel O, Groemer TW, Kornhuber J, Bönsch D.
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| J Cell Physiol 226(2):362-8.
2011
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| 6 | ATL1, REEP1, SPAST, SPG3A
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| Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network.
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| Park SH, Zhu PP, Parker RL, Blackstone C.
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| J Clin Invest 120(4):1097-110.PMID: 20200447 2010
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| 7 | SPAST, SPG4
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| Evaluation of loss of function as an explanation for SPG4-based hereditary spastic paraplegia.
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| Solowska JM, Garbern JY, Baas PW.
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| Hum Mol Genet 19(14):2767-79. Epub 2010 Apr 29.PMID: 20430936 2010
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| 8 | ATL1, REEP1, SPAST
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| Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network.
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| Park SH, Zhu PP, Parker RL, Blackstone C.
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| J Clin Invest 120(4):1097-110. doi: 10.1172/JCI40979.
2010
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| 9 | SPAST, SPG4
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| Expansion of mutation spectrum, determination of mutation cluster regions and predictive structural classification of SPAST mutations in hereditary spastic paraplegia.
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| Shoukier M, Neesen J, Sauter SM, Argyriou L, Doerwald N, Pantakani DV, Mannan AU.
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| Eur J Hum Genet 17(2):187-94. Epub 2008 Aug 13. Erratum in: Eur J Hum Genet. 2009 Mar;17(3):401-2.
2009
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| 10 | NIPA1, SPART, SPAST, SPG21, ZFYVE26
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| The hereditary spastic paraplegia proteins NIPA1, spastin and spartin are inhibitors of mammalian BMP signalling.
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| Tsang HT, Edwards TL, Wang X, Connell JW, Davies RJ, Durrington HJ, O'Kane CJ, Luzio JP, Reid E.
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| Hum Mol Genet 18(20):3805-21. Epub 2009 Jul 20.PMID: 19620182 2009
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| 11 | SPAST, SPG4
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| Dementia in SPG4 hereditary spastic paraplegia: clinical, genetic, and neuropathologic evidence.
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| Murphy S, Gorman G, Beetz C, Byrne P, Dytko M, McMonagle P, Kinsella K, Farrell M, Hutchinson M.
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| Neurology 73(5):378-84.
2009
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| 12 | SPAST
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| Spastin couples microtubule severing to membrane traffic in completion of cytokinesis and secretion.
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| Connell JW, Lindon C, Luzio JP, Reid E.
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| Traffic 10(1):42-56. Epub 2008 Oct 29.
2009
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| 13 | SPAST, SPG4
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| Structural basis of microtubule severing by the hereditary spastic paraplegia protein spastin.
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| Roll-Mecak A, Vale RD.
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| Nature 451(7176):363-7. 2008
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| 14 | SPG4, SPAST
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| Mental deficiency in three families with SPG4 spastic paraplegia.
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| Riba• P, Depienne C, Fedirko E, Jothy AC, Viveweger C, Hahn-Barma V, Brice A, Durr A.
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| Eur J Hum Genet 16(1):97-104. Epub 2007 Oct 24. 2008
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| 15 | CHMP1B, SPAST
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| Structural basis for midbody targeting of spastin by the ESCRT-III protein CHMP1B.
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| Yang D, Rismanchi N, Renvoisé B, Lippincott-Schwartz J, Blackstone C, Hurley JH.
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| Nat Struct Mol Biol 15(12):1278-86. Epub 2008 Nov 9.
2008
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| 16 | KATNA1, SPAST
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| The microtubule-severing proteins spastin and katanin participate differently in the formation of axonal branches.
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| Yu W, Qiang L, Solowska JM, Karabay A, Korulu S, Baas PW.
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| Mol Biol Cell 19(4):1485-98. Epub 2008 Jan 30.
2008
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| 17 | SPG4, SPAST
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| Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia.
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| Depienne C, Fedirko E, Forlani S, Cazeneuve C, Ribai P, Feki I, Tallaksen C, Nguyen K, Stankoff B, Ruberg M, Stevanin G, Durr A, Brice A.
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| J Med Genet 44(4):281-4. Epub 2006 Nov 10. 2007
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| 18 | SPG4, SPAST
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| A multi-exonic SPG4 duplication underlies sex-dependent penetrance of hereditary spastic paraplegia in a large Brazilian pedigree.
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| Mitne-Neto M, Kok F, Beetz C, Pessoa A, Bueno C, Graciani Z, Martyn M, Monteiro CB, Mitne G, Hubert P, Nygren AO, Valadares M, Cerqueira AM, Starling A, Deufel T, Zatz M.
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| Eur J Hum Genet 15(12):1276-9. Epub 2007 Sep 26. 2007
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| 19 | SPAST, SPG4
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| Isoform-specific increase of spastin stability by N-terminal missense variants including intragenic modifiers of SPG4 hereditary spastic paraplegia.
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| Schickel J, Pamminger T, Ehrsam A, MŸnch S, Huang X, Klopstock T, Kurlemann G, Hemmerich P, Dubiel W, Deufel T, Beetz C.
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| Eur J Neurol 14(12):1322-8. Epub 2007 Oct 3. 2007
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| 20 | SPAST, SPG4
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| Infantile onset of hereditary spastic paraplegia poorly predicts the genotype.
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| Blair MA, Riddle ME, Wells JF, Breviu BA, Hedera P.
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| Pediatr Neurol 36(6):382-6.
2007
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| 21 | ATL1, SPAST, SPG3A
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| Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partners.
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| Sanderson CM, Connell JW, Edwards TL, Bright NA, Duley S, Thompson A, Luzio JP, Reid E.
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| Hum Mol Genet 15(2):307-18. Epub 2005 Dec 8. 2006
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| 22 | SPAST, SPG4
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| Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases.
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| Depienne C, Tallaksen C, Lephay JY, Bricka B, Poea-Guyon S, Fontaine B, Labauge P, Brice A, Durr A.
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| J Med Genet 43(3):259-65. Epub 2005 Jul 31. 2006
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| 23 | SPG4, SPAST
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| Novel spastin (SPG4) mutations in Italian patients with hereditary spastic paraplegia.
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| Magariello A, Muglia M, Patitucci A, Mazzei R, Conforti FL, Gabriele AL, Sprovieri T, Ungaro C, Gambardella A, Mancuso M, Siciliano G, Branca D, Aguglia U, de Angelis MV, Longo K, Quattrone A.
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| Neuromuscul Disord 16(6):387-90. Epub 2006 May 8. 2006
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| 24 | SPAST, SPG4
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| A mutation of spastin is responsible for swellings and impairment of transport in a region of axon characterized by changes in microtubule composition.
|
| Tarrade A, Fassier C, Courageot S, Charvin D, Vitte J, Peris L, Thorel A, Mouisel E, Fonknechten N, Roblot N, Seilhean D, Diérich A, Hauw JJ, Melki J.
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| Hum Mol Genet 15(24):3544-58. Epub 2006 Nov 13.
2006
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| 25 | SPAST, SPG4
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| High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia.
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| Beetz C, Nygren AO, Schickel J, Auer-Grumbach M, Bürk K, Heide G, Kassubek J, Klimpe S, Klopstock T, Kreuz F, Otto S, Schüle R, Schöls L, Sperfeld AD, Witte OW, Deufel T.
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| Neurology 67(11):1926-30. Epub 2006 Oct 11.
2006
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| 26 | SPG4, SPAST
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| Two novel mutations in the spastin gene (SPG4) found by DHPLC mutation analysis.
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| Falco M, Scuderi C, Musumeci S, Sturnio M, Neri M, Bigoni S, Caniatti L, Fichera M.
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| Neuromuscul Disord 14(11):750-3. 2004
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| 27 | SPAST
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| 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.
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| Hum Mol Genet 12(1):71-8. 2003
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| 28 | SPART, SPAST
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| 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.
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| Genomics 81(4):437-41. 2003
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| 29 | SPAST
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| The cellular and molecular pathology of the motor system in hereditary spastic paraparesis due to mutation of the spastin gene.
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| Wharton SB, McDermott CJ, Grierson AJ, Wood JD, Gelsthorpe C, Ince PG, Shaw PJ.
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| J Neuropathol Exp Neurol 62(11):1166-77. 2003
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| 30 | SPAST
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| Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics.
|
| Errico A, Ballabio A, Rugarli EI.
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| Hum Mol Genet 11(2):153-63. 2002
|
| 31 | SPAST
|
| Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia.
|
| Sauter S, Miterski B, Klimpe S, Bonsch D, Schols L, Visbeck A, Papke T, Hopf HC, Engel W, Deufel T, Epplen JT, Neesen J.
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| Hum Mutat 20(2):127-32. 2002
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| 32 | SPAST
|
| A novel mutation in the spastin gene in a family with spastic paraplegia.
|
| Morita M, Ho M, Hosler BA, McKenna-Yasek D, Brown RH Jr.
|
| Neurosci Lett 325(1):57-61. 2002
|
| 33 | SPAST
|
| A Japanese SPG4 family with a novel missense mutation of the SPG4 gene: intrafamilial variability in age at onset and clinical severity.
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| Namekawa M, Takiyama Y, Sakoe K, Nagaki H, Shimazaki H, Yoshimura M, Ikeguchi K, Nakano I, Nishizawa M.
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| Acta Neurol Scand 106(6):387-91. 2002
|
| 34 | SPAST
|
| Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia.
|
| Svenson IK, Ashley-Koch AE, Gaskell PC, Riney TJ, Cumming WJ, Kingston HM, Hogan EL, Boustany RM, Vance JM, Nance MA, Pericak-Vance MA, Marchuk DA.
|
| Am J Hum Genet 68(5):1077-85. 2001
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| 35 | SPAST
|
| Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia.
|
| Fonknechten N, Mavel D, Byrne P, Davoine CS, Cruaud C, Boentsch D, Samson D, Coutinho P, Hutchinson M, Monagle PM, Burgunder JM, Tartaglione A, Heinzlef O, Feki I, Deufel T, Parfrey N, Brice A, Fontaine B, Prud'homme JF, Weissenbach J, Durr A, Hazan J.
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| Hum Mol Genet 9(4):637-644. 2000
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| 36 | SPAST
|
| No evidence for long CAG/CTG repeats in families with spastic paraplegia linked to chromosome 2p21-24.
|
| Zander C, Yuan QP, Lindblad K, Stevanin G, Durr A, Davoine CS, Hazan J, Fontaine B, Brice A, Schalling M.
|
| Neurosci Lett 279(1):41-4. 2000
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| 37 | SPAST
|
| Hereditary spastic paraplegia caused by mutations in the SPG4 gene.
|
| Burger J, Fonknechten N, Hoeltzenbein M, Neumann L, Bratanoff E, Hazan J, Reis A.
|
| Eur J Hum Genet 8(10):771-6. 2000
|
| 38 | SPAST
|
| Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis.
|
| Lindsey JC, Lusher ME, McDermott CJ, White KD, Reid E, Rubinsztein DC, Bashir R, Hazan J, Shaw PJ, Bushby KM.
|
| J Med Genet 37(10):759-65. 2000
|
| 39 | SPAST
|
| A fine integrated map of the SPG4 locus excludes an expanded CAG repeat in chromosome 2p-linked autosomal dominant spastic paraplegia.
|
| Hazan J, et al.
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| Genomics 60(3):309-19 1999
|
| 40 | SPAST
|
| 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 CS, Cruaud C, Durr A, Wincker P, Brottier P, Cattolico L, Barbe V, Burgunder JM, Prud'homme JF, Brice A, Fontaine B, Heilig B, Weissenbach J.
|
| Nat Genet 23(3):296-303 1999
|
| 41 | AFG3L1, AFG3L2, NSF, NVL, PBD2, PEX1, PEX6, PSMC1, PSMC2, PSMC3, PSMC4, PSMC5, PSMC6, VPS4B, SPAST, VCP
|
| AAA+: A class of chaperone-like ATPases associated with the assembly, operation, and disassembly of protein complexes.
|
| Neuwald AF, Aravind L, Spouge JL, Koonin EV.
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| Genome Res 9(1):27-43 1999
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| 42 | SPAST
|
| Isolation of CAG/CTG repeats from within the chromosome 2p21-p24 locus for autosomal dominant spastic paraplegia (SPG4) by YAC fragmentation.
|
| Del-Favero J, Goossens D, De Jonghe P, Benson K, Michalik A, Van den Bossche D, Horwitz M, Van Broeckhoven C.
|
| Hum Genet 105(3):217-25. 1999
|
| 43 | SPAST
|
| Mapping of a complicated familial spastic paraplegia to locus SPG4 on chromosome 2p.
|
| Heinzlef O, Paternotte C, Mahieux F, Prud'homme JF, Dien J, Madigand M, Pouget J, Weissenbach J, Roullet E, Hazan J.
|
| J Med Genet 35(2):89-93. 1998
|
| 44 | SPAST
|
| Clinical heterogeneity of familial spastic paraplegia linked to chromosome 2p21.
|
| Nance MA, et al.
|
| Hum Hered 48 : 169-178. 1998
|
| 45 | SPAST
|
| Autosomal dominant hereditary spastic paraparesis with cognitive loss linked to chromosome 2p.
|
| Webb S, et al.
|
| Brain 121 : 601-609. 1998
|
| 46 | SPAST
|
| Linkage of AD HSP and cognitive impairment to chromosome 2p : haplotype and phenotype analysis indicates variable expression and low or delayed penetrance.
|
| Byrne PC, et al.
|
| Eur J Hum Genet 6 : 275-282. 1998
|
| 47 | ERDA1, SPAST, TCF4
|
| CAG repeat expansion in autosomal dominant familial spastic paraparesis : novel expansion in a subset of patients.
|
| Benson KF, et al.
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| Hum Mol Genet 7 : 1779-1786. 1998
|
| 48 | SPAST
|
| Familial spastic paraparesis : evaluation of locus heterogeneity, anticipation, and haplotype mapping of the SPG4 locus on the short arm of chromosome 2.
|
| Raskind WH, et al.
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| Am J Med Genet 74 : 26-36. 1997
|
| 49 | SPAST
|
| Hereditary spastic paraplegia : LOD-score considerations for confirmation of linkage in a heterogeneous trait.
|
| DubŽ MP, et al.
|
| Am J Hum Genet 60 : 625-629. 1997
|
| 50 | SPAST
|
| Clinically different forms of hereditary spastic paraplegia map to the same region of chromosome 2. (abstr)
|
| Byrne P, et al.
|
| Medizinische Genetik 9 : 4. 1997
|
| 51 | SPAST
|
| CAG repeat expansion in autosomal dominant pure spastic paraplegia linked to chromosome 2p21-p24.
|
| Nielsen JE, Koefoed P, Abell K, Hasholt L, Eiberg H, Fenger K, Niebuhr E, Sorensen SA.
|
| Hum Mol Genet 6(11):1811-6. 1997
|
| 52 | ATL1, SPAST, SPG1, SPG2, SPG3A, SPG5A, SPG6
|
| Molecular genetics of familial spastic paraplegia : a multitude of responsible genes.
|
| Kobayashi H, et al.
|
| J Neurol Sci 137 : 131-138. 1996
|
| 53 | SPAST
|
| Autosomal dominant spastic paraplegia with anticipation maps to a 4-cM interval on chromosome 2p21-p24 in a large German family.
|
| BŸrger J, et al.
|
| Hum Genet 98 : 371-375. 1996
|
| 54 | SPAST
|
| Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p.
|
| Hazan J, et al.
|
| Hum Mol Genet 3 : 1569-1573. 1994
|
| 55 | SPAST
|
| Linkage of a locus for autosomal dominant familial spastic paraplegia to chromosome 2p markers.
|
| Hentati A, et al.
|
| Hum Mol Genet 3 : 1867-1871. 1994
|