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dc.contributor.author | Estelle Arnaud Gouttenoire![]() |
es_ES |
dc.contributor.author | Lupo,V![]() |
es_ES |
dc.contributor.author | Calpena-Corpas, Eduardo![]() |
es_ES |
dc.contributor.author | Luca Bartesaghi![]() |
es_ES |
dc.contributor.author | Fanny Schüpfer![]() |
es_ES |
dc.contributor.author | Jean-Jacques Médard![]() |
es_ES |
dc.contributor.author | Fabienne Maurer![]() |
es_ES |
dc.contributor.author | Jacques S Beckmann![]() |
es_ES |
dc.contributor.author | Jan Senderek![]() |
es_ES |
dc.contributor.author | Palau, Francesc![]() |
es_ES |
dc.contributor.author | Espinós-Armero, Carmen Ángeles![]() |
es_ES |
dc.contributor.author | Roman Chrast![]() |
es_ES |
dc.date.accessioned | 2023-12-28T19:02:49Z | |
dc.date.available | 2023-12-28T19:02:49Z | |
dc.date.issued | 2013-07 | es_ES |
dc.identifier.uri | http://hdl.handle.net/10251/201224 | |
dc.description.abstract | [EN] Mutations in SH3TC2 trigger autosomal recessive demyelinating Charcot-Marie-Tooth type 4C (CMT4C) neuropathy. Sh3tc2 is specifically expressed in Schwann cells and is necessary for proper myelination of peripheral axons. In line with the early onset of neuropathy observed in patients with CMT4C, our analyses of the murine model of CMT4C revealed that the myelinating properties of Sh3tc2-deficient Schwann cells are affected at an early stage. This early phenotype is associated with changes in the canonical Nrg1/ErbB pathway involved in control of myelination. We demonstrated that Sh3tc2 interacts with ErbB2 and plays a role in the regulation of ErbB2 intracellular trafficking from the plasma membrane upon Nrg1 activation. Interestingly, both the loss of Sh3tc2 function in mice and the pathological mutations present in CMT4C patients affect ErbB2 internalization, potentially altering its downstream intracellular signaling pathways. Altogether, our results indicate that the molecular mechanism for the axonal size sensing is disturbed in Sh3tc2-deficient myelinating Schwann cells, thus providing a novel insight into the pathophysiology of CMT4C neuropathy. | es_ES |
dc.description.sponsorship | Grant sponsor: Swiss National Science Foundation (SNSF); Grant number: 31003A_135735/1; Grant sponsor: Instituto de Salud Carlos III (ISCIII); Grant numbers: CP08/00053, PS09/00095; Grant sponsor: Association Francaise contre les Myopathies; Neuromuscular Research Association Basel; CSIC; ISCIII. | es_ES |
dc.language | Inglés | es_ES |
dc.publisher | John Wiley & Sons | es_ES |
dc.relation.ispartof | Glia | es_ES |
dc.rights | Reserva de todos los derechos | es_ES |
dc.subject | Charcot-Marie-Tooth type 4C | es_ES |
dc.subject | Myelin | es_ES |
dc.subject | Intracellular trafficking | es_ES |
dc.subject.classification | BIOLOGIA CELULAR | es_ES |
dc.title | Sh3tc2 deficiency affects neuregulin-1/ErbB signaling | es_ES |
dc.type | Artículo | es_ES |
dc.identifier.doi | 10.1002/glia.22493 | es_ES |
dc.relation.projectID | info:eu-repo/grantAgreement/MICINN//CP08%2F00053/ES/CP08%2F00053/ | es_ES |
dc.relation.projectID | info:eu-repo/grantAgreement/MICINN//PS09%2F00095/ES/BASES GENETICAS Y FISIOPATOLOGIA CELULAR DE LAS NEUROPATIAS PERIFERICAS HEREDITARIAS/ | es_ES |
dc.relation.projectID | info:eu-repo/grantAgreement/ISCIII//CP08%2F00053/ | es_ES |
dc.relation.projectID | info:eu-repo/grantAgreement/ISCIII//PS09%2F00095//Bases genéticas y fisiopatología celular de las neuropatías periféricas hereditarias/ | es_ES |
dc.relation.projectID | info:eu-repo/grantAgreement/SNSF//31003A_135735%2F1/ | es_ES |
dc.rights.accessRights | Abierto | es_ES |
dc.contributor.affiliation | Universitat Politècnica de València. Escuela Técnica Superior de Ingeniería Agronómica y del Medio Natural - Escola Tècnica Superior d'Enginyeria Agronòmica i del Medi Natural | es_ES |
dc.description.bibliographicCitation | Estelle Arnaud Gouttenoire; Lupo, V.; Calpena-Corpas, E.; Luca Bartesaghi; Fanny Schüpfer; Jean-Jacques Médard; Fabienne Maurer... (2013). Sh3tc2 deficiency affects neuregulin-1/ErbB signaling. Glia. 61(7):1041-1051. https://doi.org/10.1002/glia.22493 | es_ES |
dc.description.accrualMethod | S | es_ES |
dc.relation.publisherversion | https://doi.org/10.1002/glia.22493 | es_ES |
dc.description.upvformatpinicio | 1041 | es_ES |
dc.description.upvformatpfin | 1051 | es_ES |
dc.type.version | info:eu-repo/semantics/publishedVersion | es_ES |
dc.description.volume | 61 | es_ES |
dc.description.issue | 7 | es_ES |
dc.identifier.eissn | 0894-1491 | es_ES |
dc.identifier.pmid | 23553667 | es_ES |
dc.relation.pasarela | S\505798 | es_ES |
dc.contributor.funder | Instituto de Salud Carlos III | es_ES |
dc.contributor.funder | Swiss National Science Foundation | es_ES |
dc.contributor.funder | Neuromuscular Research Association Basel | es_ES |
dc.contributor.funder | Association Française contre les Myopathies | es_ES |
dc.contributor.funder | Consejo Superior de Investigaciones Científicas | es_ES |