Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy

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dc.contributor.author Estañ, María Cristina
dc.contributor.author Fernández-Núñez, Elisa
dc.contributor.author Zaki, Maha S.
dc.contributor.author Esteban, María Isabel
dc.contributor.author Donkervoort, Sandra
dc.contributor.author Hawkins, Cynthia
dc.contributor.author Caparros-Martin, José A.
dc.contributor.author Saade, Dimah
dc.contributor.author Hu, Ying
dc.contributor.author Bolduc, Véronique
dc.contributor.author Chao, Katherine Ru Yui
dc.contributor.author Nevado, Julián
dc.contributor.author Lamuedra, Ana
dc.contributor.author Largo, Raquel
dc.contributor.author Herrero-Beaumont, Gabriel
dc.contributor.author Regadera, Javier
dc.contributor.author Hernandez-Chico, Concepción
dc.contributor.author Tizzano, Eduardo F.
dc.contributor.author Martinez-Glez, Victor
dc.contributor.author Carvajal, Jaime J.
dc.contributor.author Zong, Ruiting
dc.contributor.author Nelson, David L.
dc.contributor.author Otaify, Ghada A.
dc.contributor.author Temtamy, Samia
dc.contributor.author Aglan, Mona
dc.contributor.author Issa, Mahmoud
dc.contributor.author Bönnemann, Carsten G.
dc.contributor.author Lapunzina, Pablo
dc.contributor.author Yoon, Grace
dc.contributor.author Ruiz-Perez, Victor L.
dc.contributor.other UAM. Departamento de Anatomía, Histología y Neurociencia es_ES
dc.contributor.other UAM. Departamento de Medicina es_ES
dc.contributor.other Instituto de Investigaciones Biomédicas "Alberto Sols" (IIBM) es_ES
dc.contributor.other Instituto de Investigación Sanitaria Fundación Jiménez Díaz (ISS-FJD) es_ES
dc.contributor.other Instituto de Investigación Sanitaria Hospital Universitario de La Paz (IdiPAZ) es_ES
dc.date.accessioned 2019-08-14T15:42:58Z
dc.date.available 2019-08-14T15:42:58Z
dc.date.issued 2019
dc.identifier.citation Nature Communications 10.1 (2019): 797 en_US
dc.identifier.issn 2041-1723 es_ES
dc.identifier.uri http://hdl.handle.net/10486/688388
dc.description.abstract FXR1 is an alternatively spliced gene that encodes RNA binding proteins (FXR1P) involved in muscle development. In contrast to other tissues, cardiac and skeletal muscle express two FXR1P isoforms that incorporate an additional exon-15. We report that recessive mutations in this particular exon of FXR1 cause congenital multi-minicore myopathy in humans and mice. Additionally, we show that while Myf5-dependent depletion of all FXR1P isoforms is neonatal lethal, mice carrying mutations in exon-15 display non-lethal myopathies which vary in severity depending on the specific effect of each mutation on the protein. en_US
dc.description.sponsorship This work was financially supported by the Spanish Ministry of Economy and Competitiveness (SAF2013-43365- R/SAF2016-75434-R) and CIBERER (ACCI 2017). The work performed at the NIH was supported by intramural funds from the NIH National Institute of Neurological Disorders and Stroke. Sequencing analysis was provided by the Broad Institute of MIT and Harvard Center for Mendelian Genomics and was funded by the National Human Genome Research Institute, the National Eye Institute and the National Heart, Lung and Blood Institute grant UM1 HG008900 to Daniel MacArthur and Heidi Rehm. The Broad Center for Mendelian Genomics (UM1 HG008900) is funded by the National Human Genome Research Institute with supplemental funding provided by the National Heart, Lung, and Blood Institute under the Trans-Omics for Precision Medicine (TOPMed) program and the National Eye Institute. en_US
dc.format.extent 19 pag. es_ES
dc.format.mimetype application/pdf en
dc.language.iso eng en
dc.publisher Springer Nature en_US
dc.relation.ispartof Nature Communications en_US
dc.rights © 2019, The Author(s) es_ES
dc.subject.other FXR1 en_US
dc.subject.other FXR1P en_US
dc.subject.other Recessive mutations en_US
dc.subject.other Myopath en_US
dc.subject.other Protein en_US
dc.title Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy en_US
dc.type article en
dc.subject.eciencia Medicina es_ES
dc.relation.publisherversion https://doi.org/10.1038/s41467-019-08548-9 es_ES
dc.identifier.doi 10.1038/s41467-019-08548-9 es_ES
dc.identifier.publicationfirstpage 797-1 es_ES
dc.identifier.publicationissue 1 es_ES
dc.identifier.publicationlastpage 797-19 es_ES
dc.identifier.publicationvolume 10 es_ES
dc.relation.projectID Gobierno de España. SAF2013-43365- R es_ES
dc.relation.projectID Gobierno de España. SAF2016-75434-R es_ES
dc.type.version info:eu-repo/semantics/publishedVersion en
dc.rights.cc Reconocimiento es_ES
dc.rights.accessRights openAccess es_ES
dc.authorUAM Herrero-Beaumont Cuenca, Gabriel (259891)
dc.authorUAM Regadera González, Javier Fco. (259324)


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