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dc.contributor.authorPuisac, Beatriz-
dc.contributor.authorWesseling, J.-
dc.contributor.authorGómez-Puertas, Paulino-
dc.contributor.authorPié, Juan-
dc.date.accessioned2015-03-11T11:28:01Z-
dc.date.available2015-03-11T11:28:01Z-
dc.date.issued2012-
dc.identifierdoi: 10.1007/s11033-011-1270-8-
dc.identifierissn: 0301-4851-
dc.identifier.citationMolecular Biology Reports 39: 4777- 4785 (2012)-
dc.identifier.urihttp://hdl.handle.net/10261/112173-
dc.description.abstractThe genes HMGCS2 and HMGCL encode the two main enzymes for ketone-body synthesis, mitochondrial HMG-CoA synthase and HMG-CoA lyase. Here, we identify and describe possible splice variants of these genes in human tissues. We detected an alternative transcript of HMGCS2 carrying a deletion of exon 4, and two alternative transcripts of HMGCL with deletions of exons 5 and 6, and exons 5, 6 and 7, respectively. All splice variants maintained the reading frame. However, Western blot studies and overexpression measurements in eukaryotic or prokaryotic cell models did not reveal HL or mHS protein variants. Both genes showed a similar distribution of the inactive variants in different tissues. Surprisingly, the highest percentages were found in tissues where almost no ketone bodies are synthesized: heart, skeletal muscle and brain. Our results suggest that alternative splicing might coordinately block the two main enzymes of ketogenesis in specific human tissues-
dc.description.sponsorshipDiputación General de Aragón; University of Zaragoza UZ2007-BIO-13); Spanish Ministry of Education and Science ; Instituto de Salud Carlos III (CIBER Fisiopatologıa de la Obesidad y Nutrición); European Union (FP7-223431 ‘‘Divinocell’’ project); Fundación Ramón Areces -
dc.publisherKluwer Academic Publishers-
dc.rightsclosedAccess-
dc.subjectHMGCL-
dc.subjectAlternative splicing-
dc.subjectKetone bodies-
dc.subjectHMGCS2-
dc.titleCharacterization of splice variants of the genes encoding human mitochondrial HMG-CoA lyase and HMG-CoA synthase, the main enzymes of the ketogenesis pathway-
dc.typeartículo-
dc.identifier.doi10.1007/s11033-011-1270-8-
dc.date.updated2015-03-11T11:28:01Z-
dc.description.versionPeer Reviewed-
dc.language.rfc3066eng-
dc.contributor.funderGobierno de Aragón-
dc.contributor.funderUniversidad de Zaragoza-
dc.contributor.funderMinisterio de Educación y Ciencia (España)-
dc.contributor.funderInstituto de Salud Carlos III-
dc.contributor.funderEuropean Commission-
dc.contributor.funderFundación Ramón Areces-
dc.identifier.funderhttp://dx.doi.org/10.13039/501100007041es_ES
dc.identifier.funderhttp://dx.doi.org/10.13039/501100004587es_ES
dc.identifier.funderhttp://dx.doi.org/10.13039/501100000780es_ES
dc.identifier.funderhttp://dx.doi.org/10.13039/100008054es_ES
dc.identifier.funderhttp://dx.doi.org/10.13039/501100010067es_ES
dc.type.coarhttp://purl.org/coar/resource_type/c_6501es_ES
item.openairetypeartículo-
item.cerifentitytypePublications-
item.grantfulltextnone-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.fulltextNo Fulltext-
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