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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.
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. PLoS One. 2013 Jun 24;8(6):e66541. doi: 10.1371/journal.pone.0066541. Print 2013. PLoS One. 2013. PMID: 23826100 Free PMC article.
Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritance.
Peeters K, Litvinenko I, Asselbergh B, Almeida-Souza L, Chamova T, Geuens T, Ydens E, Zimoń M, Irobi J, De Vriendt E, De Winter V, Ooms T, Timmerman V, Tournev I, Jordanova A. Peeters K, et al. Am J Hum Genet. 2013 Jun 6;92(6):955-64. doi: 10.1016/j.ajhg.2013.04.013. Epub 2013 May 9. Am J Hum Genet. 2013. PMID: 23664119 Free PMC article.
Sensory-Neuropathy-Causing Mutations in ATL3 Cause Aberrant ER Membrane Tethering.
Krols M, Detry S, Asselbergh B, Almeida-Souza L, Kremer A, Lippens S, De Rycke R, De Winter V, Müller FJ, Kurth I, McMahon HT, Savvides SN, Timmerman V, Janssens S. Krols M, et al. Cell Rep. 2018 May 15;23(7):2026-2038. doi: 10.1016/j.celrep.2018.04.071. Cell Rep. 2018. PMID: 29768202 Free article.
38 results