| 1 | CMT2F, HSPB1
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| Characterization of Mutants of Human Small Heat Shock Protein HspB1 Carrying Replacements in the N-Terminal Domain and Associated with Hereditary Motor Neuron Diseases.
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| Muranova LK, Weeks SD, Strelkov SV, Gusev NB.
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| PLoS One 10(5):e0126248. doi: 10.1371/journal.pone.0126248. eCollection 2015.
2015
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| 2 | CMT2F, HSPB1
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| Charcot-Marie-Tooth 2F: phenotypic presentation of the Arg136Leu HSP27 mutation in a multigenerational family.
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| Stancanelli C, Fabrizi GM, Ferrarini M, Cavallaro T, Taioli F, Di Leo R, Russo M, Gentile L, Toscano A, Vita G, Mazzeo A.
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| Neurol Sci 36(6):1003-6. doi: 10.1007/s10072-014-2050-8. Epub 2014 Dec 30.
2015
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| 3 | CMT2F, HDAC6, HSPB1
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| HDAC6 inhibitors reverse axonal loss in a mouse model of mutant HSPB1-induced Charcot-Marie-Tooth disease.
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| d'Ydewalle C, Krishnan J, Chiheb DM, Van Damme P, Irobi J, Kozikowski AP, Vanden Berghe P, Timmerman V, Robberecht W, Van Den Bosch L.
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| Nat Med 17(8):968-74. doi: 10.1038/nm.2396.
2011
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| 4 | CMT2F, HSPB1
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| Small heat-shock protein HSPB1 mutants stabilize microtubules in Charcot-Marie-Tooth neuropathy.
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| Almeida-Souza L, Asselbergh B, d'Ydewalle C, Moonens K, Goethals S, de Winter V, Azmi A, Irobi J, Timmermans JP, Gevaert K, Remaut H, Van Den Bosch L, Timmerman V, Janssens S.
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| J Neurosci 31(43):15320-8. doi: 10.1523/JNEUROSCI.3266-11.2011.
2011
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| 5 | CMT2F, HSPB1
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| Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN/CMT type 2.
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| Houlden H, Laura M, Wavrant-De Vrièze F, Blake J, Wood N, Reilly MM.
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| Neurology 71(21):1660-8. Epub 2008 Oct 1.PMID: 18832141 2008
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| 6 | CMT2F, HSPB1
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| Asymmetrical late onset motor neuropathy associated with a novel mutation in the small heat shock protein HSPB1 (HSP27).
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| James PA, Rankin J, Talbot K.
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| J Neurol Neurosurg Psychiatry 79(4):461-3.PMID: 18344398 2008
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| 7 | HSPB1, CMT2F
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| A mutation in the small heat-shock protein HSPB1 leading to distal hereditary motor neuronopathy disrupts neurofilament assembly and the axonal transport of specific cellular cargoes.
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| Ackerley S, James PA, Kalli A, French S, Davies KE, Talbot K.
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| Hum Mol Genet 15(2):347-54. Epub 2005 Dec 20. 2006
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| 8 | HSPB1, CMT2F
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| Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy.
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| Evgrafov OV, Mersiyanova I, Irobi J, Van Den Bosch L, Dierick I, Leung CL, Schagina O, Verpoorten N, Van Impe K, Fedotov V, Dadali E, Auer-Grumbach M, Windpassinger C, Wagner K, Mitrovic Z, Hilton-Jones D, Talbot K, Martin JJ, Vasserman N, Tverskaya S, Polyakov A, Liem RK, Gettemans J, Robberecht W, De Jonghe P, Timmerman V.
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| Nat Genet 36(6):602-6. Epub 2004 May 02. 2004
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| 9 | CMT2F
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| A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21.
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| Ismailov SM, Fedotov VP, Dadali EL, Polyakov AV, Van Broeckhoven C, Ivanov VI, De Jonghe P, Timmerman V, Evgrafov OV.
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| Eur J Hum Genet 9(8):646-50. 2001
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