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Page 1
Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy.
Bauché S, Vellieux G, Sternberg D, Fontenille MJ, De Bruyckere E, Davoine CS, Brochier G, Messéant J, Wolf L, Fardeau M, Lacène E, Romero N, Koenig J, Fournier E, Hantaï D, Streichenberger N, Manel V, Lacour A, Nadaj-Pakleza A, Sukno S, Bouhour F, Laforêt P, Fontaine B, Strochlic L, Eymard B, Chevessier F, Stojkovic T, Nicole S. Bauché S, et al. Among authors: de bruyckere e. J Neurol. 2017 Aug;264(8):1791-1803. doi: 10.1007/s00415-017-8569-x. Epub 2017 Jul 15. J Neurol. 2017. PMID: 28712002
Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy.
Nicole S, Chaouch A, Torbergsen T, Bauché S, de Bruyckere E, Fontenille MJ, Horn MA, van Ghelue M, Løseth S, Issop Y, Cox D, Müller JS, Evangelista T, Stålberg E, Ioos C, Barois A, Brochier G, Sternberg D, Fournier E, Hantaï D, Abicht A, Dusl M, Laval SH, Griffin H, Eymard B, Lochmüller H. Nicole S, et al. Among authors: de bruyckere e. Brain. 2014 Sep;137(Pt 9):2429-43. doi: 10.1093/brain/awu160. Epub 2014 Jun 20. Brain. 2014. PMID: 24951643
Autophagy regulates neuronal excitability by controlling cAMP/protein kinase A signaling at the synapse.
Overhoff M, Tellkamp F, Hess S, Tolve M, Tutas J, Faerfers M, Ickert L, Mohammadi M, De Bruyckere E, Kallergi E, Delle Vedove A, Nikoletopoulou V, Wirth B, Isensee J, Hucho T, Puchkov D, Isbrandt D, Krueger M, Kloppenburg P, Kononenko NL. Overhoff M, et al. Among authors: de bruyckere e. EMBO J. 2022 Nov 17;41(22):e110963. doi: 10.15252/embj.2022110963. Epub 2022 Oct 11. EMBO J. 2022. PMID: 36217825 Free PMC article.
AP-2 reduces amyloidogenesis by promoting BACE1 trafficking and degradation in neurons.
Bera S, Camblor-Perujo S, Calleja Barca E, Negrete-Hurtado A, Racho J, De Bruyckere E, Wittich C, Ellrich N, Martins S, Adjaye J, Kononenko NL. Bera S, et al. Among authors: de bruyckere e. EMBO Rep. 2020 Jun 4;21(6):e47954. doi: 10.15252/embr.201947954. Epub 2020 Apr 23. EMBO Rep. 2020. PMID: 32323475 Free PMC article.
Never Repeat the Same Trick Twice-Unless it is Cognitively Impenetrable.
Ekroll V, De Bruyckere E, Vanwezemael L, Wagemans J. Ekroll V, et al. Among authors: de bruyckere e. Iperception. 2018 Dec 26;9(6):2041669518816711. doi: 10.1177/2041669518816711. eCollection 2018 Nov-Dec. Iperception. 2018. PMID: 30627415 Free PMC article.
Stability and Function of Hippocampal Mossy Fiber Synapses Depend on Bcl11b/Ctip2.
De Bruyckere E, Simon R, Nestel S, Heimrich B, Kätzel D, Egorov AV, Liu P, Jenkins NA, Copeland NG, Schwegler H, Draguhn A, Britsch S. De Bruyckere E, et al. Front Mol Neurosci. 2018 Apr 5;11:103. doi: 10.3389/fnmol.2018.00103. eCollection 2018. Front Mol Neurosci. 2018. PMID: 29674952 Free PMC article.