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dc.contributor.authorArqué, G.
dc.contributor.authorCasanovas i Llorens, Anna
dc.contributor.authorDierssen, Mara
dc.description.abstractIndividuals with Down syndrome (DS) present important motor deficits that derive from altered motor development of infants and young children. DYRK1A, a candidate gene for DS abnormalities has been implicated in motor function due to its expression in motor nuclei in the adult brain, and its overexpression in DS mouse models leads to hyperactivity and altered motor learning. However, its precise role in the adult motor system, or its possible involvement in postnatal locomotor development has not yet been clarified. During the postnatal period we observed time-specific expression of Dyrk1A in discrete subsets of brainstem nuclei and spinal cord motor neurons. Interestingly, we describe for the first time the presence of Dyrk1A in the presynaptic terminal of the neuromuscular junctions and its axonal transport from the facial nucleus, suggesting a function for Dyrk1A in these structures. Relevant to DS, Dyrk1A overexpression in transgenic mice (TgDyrk1A) produces motor developmental alterations possibly contributing to DS motor phenotypes and modifies the numbers of motor cholinergic neurons, suggesting that the kinase may have a role in the development of the brainstem and spinal cord motor system.ca_ES
dc.description.sponsorshipThe laboratory of MD is supported by Departament d’Universitats, Recerca i Societat de la Informació (DURSI) (Grups consolidats 09 2009SGR1313). This work was supported by FCT-08-0782, SAF2007-60827, SAF2010-16427, SAF2007-31093-E, Fondo de Investigación Sanitaria (FIS) (PI 082038), Marató TV3, Jerome Lejeune, Reina Sofia and Areces Foundations and EU (LSHG-CT-2006-037627; CureFXS ERare-EU/FIS PS09102673). The CIBER of Enfermedades Raras is an initiative of the ISCIII. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.
dc.publisherPublic Library of Scienceca_ES
dc.relation.isformatofReproducció del document publicat a: [untranslated]ca_ES
dc.relation.ispartofPLoS ONE, 2013, vol. 8, núm. 1, e54285ca_ES
dc.rightscc-by, (c) Arqué, Casanovas, Dierssen, 2013ca_ES
dc.subject.otherExpressió gènicaca_ES
dc.subject.otherDown, Síndrome deca_ES
dc.subject.otherSistema nerviós -- Malaltiesca_ES
dc.subject.otherSistema nerviós -- Degeneracióca_ES
dc.subject.otherAprenentatge motorca_ES
dc.subject.otherTransducció de senyal cel·lularca_ES
dc.titleDyrk1A is dynamically expressed on subsets of motor neurons and in the neuromuscular junction: possible role in Down syndromeca_ES

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cc-by, (c) Arqué, Casanovas, Dierssen, 2013
Except where otherwise noted, this item's license is described as cc-by, (c) Arqué, Casanovas, Dierssen, 2013