dc.creator | Krieger, Frank | es |
dc.creator | Elflein, Nicole | es |
dc.creator | Ruiz Laza, Rocío | es |
dc.creator | Guerra, Joana | es |
dc.creator | Serrano, Antonio L. | es |
dc.creator | Asan, Esther | es |
dc.creator | Tabares, Lucía | es |
dc.creator | Jablonka, Sibylle | es |
dc.date.accessioned | 2021-05-05T16:52:20Z | |
dc.date.available | 2021-05-05T16:52:20Z | |
dc.date.issued | 2013-06 | |
dc.identifier.citation | Krieger, F., Elflein, N., Ruiz Laza, R., Guerra, J., Serrano, A.L., Asan, E.,...,Jablonka, S. (2013). Fast motor axon loss in SMARD1 does not correspond to morphological and functional alterations of the NMJ. Neurobiology Of Disease, 54, 169-182. | |
dc.identifier.issn | 0969-9961 | es |
dc.identifier.uri | https://hdl.handle.net/11441/108577 | |
dc.description.abstract | Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a childhood motoneuron disease caused
by mutations in the gene encoding for IGHMBP2, an ATPase/Helicase. Paralysis of the diaphragm is an early
and prominent clinical sign resulting both from denervation and myopathy. In skeletal muscles, muscle atrophy
mainly results from loss of motoneuron cell bodies and axonal degeneration. Although it is well known that loss
of motoneurons at the lumbar spinal cord is an early event in the pathogenesis of the disease, it is not clear
whether the corresponding proximal axons and NMJs are also early affected. In order to address this question,
we have investigated the time course of the disease progression at the level of the motoneuron cell body, prox imal axon (ventral root), distal axon (sciatic nerve), NMJ, and muscle fiber in Nmd2J mice, a mouse model
for SMARD1. Our results show an early and apparently parallel loss of motoneurons, proximal axons, and
NMJs. In affected muscles, however, denervated fibers coexist with NMJs with normal morphology and unaltered
neurotransmission. Furthermore, unaffected axons are able to sprout and reinnervate muscle fibers, suggesting
selective vulnerability of neurons to Ighmbp2 deficiency. The preservation of the NMJ morphology and neuro transmission in the Nmd2J mouse until motor axon loss takes place, differs from that observed in SMA mouse
models in which NMJ impairment is an early and more general phenomenon in affected muscles. | es |
dc.format | application/pdf | es |
dc.format.extent | 14 | es |
dc.language.iso | eng | es |
dc.publisher | Elsevier | es |
dc.relation.ispartof | Neurobiology Of Disease, 54, 169-182. | |
dc.rights | Attribution-NonCommercial-NoDerivatives 4.0 Internacional | * |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ | * |
dc.subject | SMARD1 | es |
dc.subject | Nmd2J mouse | es |
dc.subject | Motor axon | es |
dc.subject | Neuromuscular junction | es |
dc.subject | Neurotransmission | es |
dc.title | Fast motor axon loss in SMARD1 does not correspond to morphological and functional alterations of the NMJ | es |
dc.type | info:eu-repo/semantics/article | es |
dcterms.identifier | https://ror.org/03yxnpp24 | |
dc.type.version | info:eu-repo/semantics/publishedVersion | es |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | es |
dc.contributor.affiliation | Universidad de Sevilla. Departamento de Fisiología Médica y Biofísica | es |
dc.relation.publisherversion | http://dx.doi.org/10.1016/j.nbd.2012.12.010 | es |
dc.contributor.sponsorship | This work was supported by the Deutsche Forschungsgemeinsschaft
(SFB 581/B24, B18 and Z3), Fundació Marató TV3 (grant 062331),
FIS-PS09/01267, and CIBERNED | |
dc.identifier.doi | 10.1016/j.nbd.2012.12.010 | es |
dc.journaltitle | Neurobiology Of Disease | es |
dc.publication.volumen | 54 | es |
dc.publication.initialPage | 169 | es |
dc.publication.endPage | 182 | es |