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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. Among authors: asselbergh b. 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.
Abscisic acid deficiency causes changes in cuticle permeability and pectin composition that influence tomato resistance to Botrytis cinerea.
Curvers K, Seifi H, Mouille G, de Rycke R, Asselbergh B, Van Hecke A, Vanderschaeghe D, Höfte H, Callewaert N, Van Breusegem F, Höfte M. Curvers K, et al. Among authors: asselbergh b. Plant Physiol. 2010 Oct;154(2):847-60. doi: 10.1104/pp.110.158972. Epub 2010 Aug 13. Plant Physiol. 2010. PMID: 20709830 Free PMC article.
Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I.
Rotthier A, Penno A, Rautenstrauss B, Auer-Grumbach M, Stettner GM, Asselbergh B, Van Hoof K, Sticht H, Lévy N, Timmerman V, Hornemann T, Janssens K. Rotthier A, et al. Among authors: asselbergh b. Hum Mutat. 2011 Jun;32(6):E2211-25. doi: 10.1002/humu.21481. Epub 2011 Feb 24. Hum Mutat. 2011. PMID: 21618344 Free 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: asselbergh b. J Neurosci. 2011 Oct 26;31(43):15320-8. doi: 10.1523/JNEUROSCI.3266-11.2011. J Neurosci. 2011. PMID: 22031878 Free PMC article.
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: asselbergh b. 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
Caspase-14-deficient mice are more prone to the development of parakeratosis.
Hoste E, Denecker G, Gilbert B, Van Nieuwerburgh F, van der Fits L, Asselbergh B, De Rycke R, Hachem JP, Deforce D, Prens EP, Vandenabeele P, Declercq W. Hoste E, et al. Among authors: asselbergh b. J Invest Dermatol. 2013 Mar;133(3):742-750. doi: 10.1038/jid.2012.350. Epub 2012 Sep 27. J Invest Dermatol. 2013. PMID: 23014340 Free 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. Among authors: asselbergh b. 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.
49 results