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dc.contributor.authorFernández Luna, José Luis 
dc.contributor.authorHernández Hernández, José Luis 
dc.contributor.authorCuriel Del Olmo, Soraya
dc.contributor.authorMartínez-Amador, Néstor A.
dc.contributor.authorVega, Ana I.
dc.contributor.authorQuirce Pisano, María Remedios 
dc.contributor.authorMontes Moreno, Santiago 
dc.contributor.authorGutiérrez, Olga
dc.contributor.authorReal Bolt, Álvaro del 
dc.contributor.authorSañudo Campo, María Carolina 
dc.contributor.authorRiancho Moral, José Antonio 
dc.contributor.otherUniversidad de Cantabriaes_ES
dc.date.accessioned2024-09-16T14:22:19Z
dc.date.available2024-09-16T14:22:19Z
dc.date.issued2024
dc.identifier.issn2324-9269
dc.identifier.urihttps://hdl.handle.net/10902/33812
dc.description.abstractBackground: Bone tissue homeostasis relies on the coordinated activity of the bone-forming osteoblasts and bone-resorbing osteoclasts. Osteomesopyknosis is considered a distinctive rare sclerosing skeletal disorder of unelucidated pathophysiology and presumably autosomal dominant transmission. However, the causal genes are unknown. Methods: We present a case report encompassing clinical assessments, imaging studies, and whole-exome sequencing analysis, complemented by functional in vitro experiments. Results: This new case of osteomesopyknosis was associated with a missense ALOX5 variant predicted to induce protein misfolding and proteasomal degradation. Transfection experiments demonstrated that the variant was associated with reduced protein levels restored by proteasomal inhibition with bortezomib. Likewise, gene expression analysis showed that the mutated gene was associated with a decreased RANKL/OPG ratio, which is a critical driver of osteoclast precursor differentiation. Conclusion: Our data indicate impaired bone resorption as the underlying mechanism of this rare osteosclerosis, implicating ALOX5 pathogenic variants as potential etiological factors.es_ES
dc.description.sponsorshipACKNOWLEDGMENTS: This study was funded in part by Instituto de Investigación Marqués de Valdecilla (IDIVAL APG/03).es_ES
dc.format.extent8 p.es_ES
dc.language.isoenges_ES
dc.publisherWiley-Blackwelles_ES
dc.rights© 2024 The Author(s). Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC. This is an open access article under the terms of the Creative Commons Attribution-NonCommercial License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.es_ES
dc.rights.urihttp://creativecommons.org/licenses/by-nc/4.0/*
dc.sourceMolecular Genetics and Genomic Medicine, 2024, 12, e2471es_ES
dc.subject.otherALOX5es_ES
dc.subject.otherOsteomesopyknosises_ES
dc.subject.otherOsteoprotegerines_ES
dc.subject.otherOsteosclerosises_ES
dc.subject.otherRANKLes_ES
dc.titleOsteomesopyknosis associated with a novel ALOX5 variant that impacts the RANKL pathwayes_ES
dc.typeinfo:eu-repo/semantics/articlees_ES
dc.relation.publisherVersionhttps://doi.org/10.1002/mgg3.2471es_ES
dc.rights.accessRightsopenAccesses_ES
dc.identifier.DOI10.1002/mgg3.2471
dc.type.versionpublishedVersiones_ES


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© 2024 The Author(s). Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC. This is an open access article under the terms of the Creative Commons Attribution-NonCommercial License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.Excepto si se señala otra cosa, la licencia del ítem se describe como © 2024 The Author(s). Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC. This is an open access article under the terms of the Creative Commons Attribution-NonCommercial License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.