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Mutant HSPB8 causes protein aggregates and a reduced mitochondrial membrane potential in dermal fibroblasts from distal hereditary motor neuropathy patients.
Irobi J, Holmgren A, De Winter V, Asselbergh B, Gettemans J, Adriaensen D, Ceuterick-de Groote C, Van Coster R, De Jonghe P, Timmerman V. Irobi J, et al. Among authors: de winter v, de jonghe p. Neuromuscul Disord. 2012 Aug;22(8):699-711. doi: 10.1016/j.nmd.2012.04.005. Epub 2012 May 15. Neuromuscul Disord. 2012. PMID: 22595202
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. Among authors: de winter v, de jonghe p. 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.
A knock-in/knock-out mouse model of HSPB8-associated distal hereditary motor neuropathy and myopathy reveals toxic gain-of-function of mutant Hspb8.
Bouhy D, Juneja M, Katona I, Holmgren A, Asselbergh B, De Winter V, Hochepied T, Goossens S, Haigh JJ, Libert C, Ceuterick-de Groote C, Irobi J, Weis J, Timmerman V. Bouhy D, et al. Among authors: de winter v. Acta Neuropathol. 2018 Jan;135(1):131-148. doi: 10.1007/s00401-017-1756-0. Epub 2017 Aug 5. Acta Neuropathol. 2018. PMID: 28780615 Free PMC article.
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: de winter v. J Neurosci. 2011 Oct 26;31(43):15320-8. doi: 10.1523/JNEUROSCI.3266-11.2011. J Neurosci. 2011. PMID: 22031878 Free PMC article.
HSPB1 facilitates the formation of non-centrosomal microtubules.
Almeida-Souza L, Asselbergh B, De Winter V, Goethals S, Timmerman V, Janssens S. Almeida-Souza L, et al. Among authors: de winter v. PLoS One. 2013 Jun 24;8(6):e66541. doi: 10.1371/journal.pone.0066541. Print 2013. PLoS One. 2013. PMID: 23826100 Free PMC article.
Mutant HSPB1 causes loss of translational repression by binding to PCBP1, an RNA binding protein with a possible role in neurodegenerative disease.
Geuens T, De Winter V, Rajan N, Achsel T, Mateiu L, Almeida-Souza L, Asselbergh B, Bouhy D, Auer-Grumbach M, Bagni C, Timmerman V. Geuens T, et al. Among authors: de winter v. Acta Neuropathol Commun. 2017 Jan 11;5(1):5. doi: 10.1186/s40478-016-0407-3. Acta Neuropathol Commun. 2017. PMID: 28077174 Free PMC article.
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