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Rare variants analysis of neurexin-1β in autism reveals a novel start codon mutation affecting protein levels at synapses
dc.creator | Camacho García, Rafael J. | es |
dc.creator | Hervás, Amaia | es |
dc.creator | Toma, Claudio | es |
dc.creator | Balmaña, Noemí | es |
dc.creator | Cormand, Bru | es |
dc.creator | Martinez-Mir, Amalia | es |
dc.creator | Gómez Scholl, Francisco Manuel | es |
dc.date.accessioned | 2024-07-31T07:39:04Z | |
dc.date.available | 2024-07-31T07:39:04Z | |
dc.date.issued | 2013-08-07 | |
dc.identifier.citation | Camacho García, R.J., Hervás, A., Toma, C., Balmaña, N., Cormand, B., Martinez-Mir, A. y Gómez Scholl, F.M. (2013). Rare variants analysis of neurexin-1β in autism reveals a novel start codon mutation affecting protein levels at synapses. Psychiatric Genetics, 23 (6), 262-266. https://doi.org/10.1097/YPG.0000000000000013. | |
dc.identifier.issn | 0955-8829 | es |
dc.identifier.issn | 1473-5873 | es |
dc.identifier.uri | https://hdl.handle.net/11441/161777 | |
dc.description.abstract | Neurexins are synaptic plasma membrane proteins encoded by three genes (NRXN1, -2, -3) with alternative promoters. Mutations in neurexin genes have been identified in different neurodevelopmental disorders, including autism. Recently, two point mutations altering the translation initiation site of NRXN1β (c.−3G>T and c.3G>T) have been described in patients with autism and mental retardation. In this study, we analyzed the NRXN1β gene in a sample of 153 patients with autism. We report the identification of a novel mutation, c.3G>A (p.Met1), affecting the translation initiation site. Expression analysis showed that the c.3G>A mutation switches the translation start site of NRXN1β to an in-frame downstream methionine and decreases synaptic levels of the mutant protein in cultured neurons. These data reinforce a role for synaptic defects of NRXN1β in neurodevelopmental disorders. | es |
dc.format | application/pdf | es |
dc.format.extent | 16 p. | es |
dc.language.iso | eng | es |
dc.publisher | Lippincott, Williams & Wilkins | es |
dc.relation.ispartof | Psychiatric Genetics, 23 (6), 262-266. | |
dc.subject | autism | es |
dc.subject | mutation | es |
dc.subject | neurexin | es |
dc.subject | neuroligin | es |
dc.subject | NRXN | es |
dc.subject | synapse | es |
dc.subject | translation | es |
dc.title | Rare variants analysis of neurexin-1β in autism reveals a novel start codon mutation affecting protein levels at synapses | es |
dc.type | info:eu-repo/semantics/article | es |
dc.type.version | info:eu-repo/semantics/acceptedVersion | 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.projectID | 2009SGR00971 | es |
dc.relation.projectID | PIEF-GA-2009-254930 | es |
dc.relation.projectID | 092010 | es |
dc.relation.projectID | FI08/00730 | es |
dc.relation.projectID | PI111058 | es |
dc.relation.projectID | PIM2010ERN-0070 | es |
dc.relation.projectID | SAF2012-33484 | es |
dc.date.embargoEndDate | 2014-12 | |
dc.relation.publisherversion | https://journals.lww.com/psychgenetics/fulltext/2013/12000/rare_variants_analysis_of_neurexin_1__in_autism.8.aspx | es |
dc.identifier.doi | 10.1097/YPG.0000000000000013 | es |
dc.journaltitle | Psychiatric Genetics | es |
dc.publication.volumen | 23 | es |
dc.publication.issue | 6 | es |
dc.publication.initialPage | 262 | es |
dc.publication.endPage | 266 | es |
dc.contributor.funder | Agencia de Gestio d\'Ajuts Universitaris i de Recerca-AGAUR, Generalitat de Catalunya | es |
dc.contributor.funder | European Union (UE) | es |
dc.contributor.funder | Fundaciò La Maratò de TV3 | es |
dc.contributor.funder | Fundación Alicia Koplowitz | es |
dc.contributor.funder | Instituto de Salud Carlos III | es |
dc.contributor.funder | Ministerio de Economía y Competitividad (MINECO). España | es |
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