| 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, 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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| 3 | 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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| 4 | 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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| 5 | 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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| 6 | 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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| 7 | 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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| 8 | ATL1, SPG10, SPG12, SPG13, SPG17, SPG19, SPG29, SPG31, SPG33, SPG3A, SPG4, SPG41, SPG6, SPG8, SPG9
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| A novel candidate locus on chromosome 11p14.1-p11.2 for autosomal dominant hereditary spastic paraplegia.
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| Zhao GH, Hu ZM, Shen L, Jiang H, Ren ZJ, Liu XM, Xia K, Guo P, Pan Q, Tang BS.
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| Chin Med J (Engl) 121(5):430-4. 2008
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| 9 | 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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| 10 | 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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| 11 | 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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| 12 | 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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| 13 | 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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| 14 | 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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| 15 | 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.
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| 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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| 16 | 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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| 17 | SPG4, CHMP1B
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| The hereditary spastic paraplegia protein spastin interacts with the ESCRT-III complex-associated endosomal protein CHMP1B.
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| Reid E, Connell J, Edwards TL, Duley S, Brown SE, Sanderson CM.
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| Hum Mol Genet 14(1):19-38. Epub 2004 Nov 10. 2005
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| 18 | CHMP1B, VPS4A, SPG4, SNX15
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| Structure and ESCRT-III protein interactions of the MIT domain of human VPS4A.
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| Scott A, Gaspar J, Stuchell-Brereton MD, Alam SL, Skalicky JJ, Sundquist WI.
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| Proc Natl Acad Sci U S A 102(39):13813-8. Epub 2005 Sep 20. 2005
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| 19 | SSNA1, APPL1, SPG4
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| Spastin interacts with the centrosomal protein NA14, and is enriched in the spindle pole, the midbody and the distal axon.
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| Errico A, Claudiani P, D'Addio M, Rugarli EI.
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| Hum Mol Genet 13(18):2121-32. Epub 2004 Jul 21. 2004
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| 20 | SPG4
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| Further evidence of dementia in SPG4-linked autosomal dominant hereditary spastic paraplegia.
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| McMonagle P, Byrne P, Hutchinson M.
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| Neurology 62(3):407-10. 2004
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| 21 | 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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