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Journal Abstract Search

307 related items for PubMed ID: 24381312

  • 1. Gene dosage-dependent rescue of HSP neurite defects in SPG4 patients' neurons.
    Havlicek S, Kohl Z, Mishra HK, Prots I, Eberhardt E, Denguir N, Wend H, Plötz S, Boyer L, Marchetto MC, Aigner S, Sticht H, Groemer TW, Hehr U, Lampert A, Schlötzer-Schrehardt U, Winkler J, Gage FH, Winner B.
    Hum Mol Genet; 2014 May 15; 23(10):2527-41. PubMed ID: 24381312
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  • 2. Loss of spastin function results in disease-specific axonal defects in human pluripotent stem cell-based models of hereditary spastic paraplegia.
    Denton KR, Lei L, Grenier J, Rodionov V, Blackstone C, Li XJ.
    Stem Cells; 2014 Feb 15; 32(2):414-23. PubMed ID: 24123785
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  • 3. Pleiotropic effects of spastin on neurite growth depending on expression levels.
    Riano E, Martignoni M, Mancuso G, Cartelli D, Crippa F, Toldo I, Siciliano G, Di Bella D, Taroni F, Bassi MT, Cappelletti G, Rugarli EI.
    J Neurochem; 2009 Mar 15; 108(5):1277-88. PubMed ID: 19141076
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  • 7. Microtubule-targeting drugs rescue axonal swellings in cortical neurons from spastin knockout mice.
    Fassier C, Tarrade A, Peris L, Courageot S, Mailly P, Dalard C, Delga S, Roblot N, Lefèvre J, Job D, Hazan J, Curmi PA, Melki J.
    Dis Model Mech; 2013 Jan 15; 6(1):72-83. PubMed ID: 22773755
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  • 8. Direct evidence for axonal transport defects in a novel mouse model of mutant spastin-induced hereditary spastic paraplegia (HSP) and human HSP patients.
    Kasher PR, De Vos KJ, Wharton SB, Manser C, Bennett EJ, Bingley M, Wood JD, Milner R, McDermott CJ, Miller CC, Shaw PJ, Grierson AJ.
    J Neurochem; 2009 Jul 15; 110(1):34-44. PubMed ID: 19453301
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  • 10. A patient-derived stem cell model of hereditary spastic paraplegia with SPAST mutations.
    Abrahamsen G, Fan Y, Matigian N, Wali G, Bellette B, Sutharsan R, Raju J, Wood SA, Veivers D, Sue CM, Mackay-Sim A.
    Dis Model Mech; 2013 Mar 15; 6(2):489-502. PubMed ID: 23264559
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  • 12. Autologous iPSC-Derived Human Neuromuscular Junction to Model the Pathophysiology of Hereditary Spastic Paraplegia.
    Costamagna D, Casters V, Beltrà M, Sampaolesi M, Van Campenhout A, Ortibus E, Desloovere K, Duelen R.
    Cells; 2022 Oct 24; 11(21):. PubMed ID: 36359747
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  • 15. Hereditary spastic paraplegia caused by mutations in the SPG4 gene.
    Bürger J, Fonknechten N, Hoeltzenbein M, Neumann L, Bratanoff E, Hazan J, Reis A.
    Eur J Hum Genet; 2000 Oct 24; 8(10):771-6. PubMed ID: 11039577
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  • 18. 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 01; 12(1):71-8. PubMed ID: 12490534
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  • 19. Screening of patients with hereditary spastic paraplegia reveals seven novel mutations in the SPG4 (Spastin) gene.
    Proukakis C, Auer-Grumbach M, Wagner K, Wilkinson PA, Reid E, Patton MA, Warner TT, Crosby AH.
    Hum Mutat; 2003 Feb 01; 21(2):170. PubMed ID: 12552568
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