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Page 1
Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia.
Hardies K, de Kovel CG, Weckhuysen S, Asselbergh B, Geuens T, Deconinck T, Azmi A, May P, Brilstra E, Becker F, Barisic N, Craiu D, Braun KP, Lal D, Thiele H, Schubert J, Weber Y, van 't Slot R, Nürnberg P, Balling R, Timmerman V, Lerche H, Maudsley S, Helbig I, Suls A, Koeleman BP, De Jonghe P; autosomal recessive working group of the EuroEPINOMICS RES Consortium. Hardies K, et al. Among authors: asselbergh b. Brain. 2015 Nov;138(Pt 11):3238-50. doi: 10.1093/brain/awv263. Epub 2015 Sep 17. Brain. 2015. PMID: 26384929
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.
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
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.
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: asselbergh b. PLoS One. 2013 Jun 24;8(6):e66541. doi: 10.1371/journal.pone.0066541. Print 2013. PLoS One. 2013. PMID: 23826100 Free PMC article.
49 results