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dc.contributor.authorRojas-P, Isabel de-
dc.contributor.authorAlbiñana, Virginia-
dc.contributor.authorRecio-Poveda, Lucía-
dc.contributor.authorRodriguez-Rufián, Amanda-
dc.contributor.authorCuesta, Ángel M.-
dc.contributor.authorBotella, Luisa María-
dc.date.accessioned2020-06-07T07:47:14Z-
dc.date.available2020-06-07T07:47:14Z-
dc.date.issued2020-
dc.identifier.citationOrphanet Journal of Rare Diseases 15(1): 132 (2020)-
dc.identifier.urihttp://hdl.handle.net/10261/213623-
dc.description© The Author(s).-
dc.description.abstractVon Hippel-Lindau syndrome (VHL) is a rare disease of dominant inheritance that increases susceptibility to tumor development, with a complete penetrance at the age of 60. In this report, we present the unprecedented case of a VHL carrier who remains healthy at 72. Under the course of this study, it was discovered that this patient carries a mutation for a second rare disease, Neuronal Ceroid Lipofuscinosis (NCL or CNL). We hypothesize that the CLN mutation she carries offers a protective effect, preventing tumor development in the cells potentially suffering a VHL second hit mutation. To test this hypothesis, we ran a series of molecular experiments and confirmed that cell viability of primary endothelial cells decreases upon CLN5 silencing. Our results further elucidate the cell biology implications of two rare diseases interacting.-
dc.description.sponsorshipFunding was provided by the projects SAF2014–52374-R and SAF2017–83351-R from the Ministry of Economy and Competitivity to LMB. The group is part of the CIBER Spanish consortium for Rare Diseases, CIBERER, unit 707, and was also financially supported by the Spanish VHL patient Alliance-
dc.language.isoeng-
dc.publisherBioMed Central-
dc.relationinfo:eu-repo/grantAgreement/AEI/Plan Estatal de Investigación Científica y Técnica y de Innovación 2017-2020/SAF2017–83351-R-
dc.relationSAF2017–83351-R/AEI/10.13039/501100011033-
dc.relation.isversionofPublisher's version-
dc.rightsopenAccess-
dc.subjectVon Hippel-Lindau (VHL)-
dc.subjectNeuronal Ceroid Lipofuscinosis type 5 (CLN5)-
dc.subjectRare disease-
dc.subjectHemangioblastoma (HB)-
dc.subjectClear cell renal cell carcinoma-
dc.subjectEndothelial cells (ECs)-
dc.titleCLN5 in heterozygosis may protect against the development of tumors in a VHL patient-
dc.identifier.doi10.1186/s13023-020-01410-y-
dc.description.peerreviewedPeer reviewed-
dc.relation.publisherversionhttps://doi.org/10.1186/s13023-020-01410-y-
dc.identifier.e-issn1750-1172-
dc.date.updated2020-06-07T07:47:15Z-
dc.rights.licensehttp://creativecommons.org/licenses/by/4.0/-
dc.contributor.funderMinisterio de Ciencia, Innovación y Universidades (España)-
dc.contributor.funderAgencia Estatal de Investigación (España)-
dc.relation.csic-
dc.identifier.funderhttp://dx.doi.org/10.13039/501100011033es_ES
item.languageiso639-1en-
item.grantfulltextopen-
item.fulltextWith Fulltext-
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