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Small heat-shock protein HSPB1 mutants stabilize microtubules in Charcot-Marie-Tooth neuropathy.
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. Almeida-Souza L, et al. Among authors: irobi j. J Neurosci. 2011 Oct 26;31(43):15320-8. doi: 10.1523/JNEUROSCI.3266-11.2011. J Neurosci. 2011. PMID: 22031878 Free PMC article.
Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy.
Irobi J, Van Impe K, Seeman P, Jordanova A, Dierick I, Verpoorten N, Michalik A, De Vriendt E, Jacobs A, Van Gerwen V, Vennekens K, Mazanec R, Tournev I, Hilton-Jones D, Talbot K, Kremensky I, Van Den Bosch L, Robberecht W, Van Vandekerckhove J, Van Broeckhoven C, Gettemans J, De Jonghe P, Timmerman V. Irobi J, et al. Nat Genet. 2004 Jun;36(6):597-601. doi: 10.1038/ng1328. Epub 2004 May 2. Nat Genet. 2004. PMID: 15122253
Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy.
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. Evgrafov OV, et al. Among authors: irobi j. Nat Genet. 2004 Jun;36(6):602-6. doi: 10.1038/ng1354. Epub 2004 May 2. Nat Genet. 2004. PMID: 15122254
Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy.
Jordanova A, Irobi J, Thomas FP, Van Dijck P, Meerschaert K, Dewil M, Dierick I, Jacobs A, De Vriendt E, Guergueltcheva V, Rao CV, Tournev I, Gondim FA, D'Hooghe M, Van Gerwen V, Callaerts P, Van Den Bosch L, Timmermans JP, Robberecht W, Gettemans J, Thevelein JM, De Jonghe P, Kremensky I, Timmerman V. Jordanova A, et al. Among authors: irobi j. Nat Genet. 2006 Feb;38(2):197-202. doi: 10.1038/ng1727. Epub 2006 Jan 22. Nat Genet. 2006. PMID: 16429158 Free article.
Mutant HSPB8 causes motor neuron-specific neurite degeneration.
Irobi J, Almeida-Souza L, Asselbergh B, De Winter V, Goethals S, Dierick I, Krishnan J, Timmermans JP, Robberecht W, De Jonghe P, Van Den Bosch L, Janssens S, Timmerman V. Irobi J, et al. Hum Mol Genet. 2010 Aug 15;19(16):3254-65. doi: 10.1093/hmg/ddq234. Epub 2010 Jun 10. Hum Mol Genet. 2010. PMID: 20538880 Free PMC article.
Genetic variant in the HSPB1 promoter region impairs the HSP27 stress response.
Dierick I, Irobi J, Janssens S, Theuns J, Lemmens R, Jacobs A, Corsmit E, Hersmus N, Van Den Bosch L, Robberecht W, De Jonghe P, Van Broeckhoven C, Timmerman V. Dierick I, et al. Among authors: irobi j. Hum Mutat. 2007 Aug;28(8):830. doi: 10.1002/humu.9503. Hum Mutat. 2007. PMID: 17623484
37 results