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dc.contributor.authorCascon Soriano, Alberto 
dc.contributor.authorRemacha, Laura 
dc.contributor.authorCalsina, Bruna 
dc.contributor.authorRobledo Mercedes, Mercedes 
dc.date.accessioned2019-07-02T08:22:27Z
dc.date.available2019-07-02T08:22:27Z
dc.date.issued2019-05-16
dc.identifier.citationCancers (Basel). 2019;11(5). pii: E683.es_ES
dc.identifier.issn2072-6694es_ES
dc.identifier.urihttp://hdl.handle.net/20.500.12105/7835
dc.description.abstractAbstract: Pheochromocytomas and paragangliomas (PPGL) are rare neuroendocrine tumors that show the highest heritability of all human neoplasms and represent a paradoxical example of genetic heterogeneity. Amongst the elevated number of genes involved in the hereditary predisposition to the disease (at least nineteen) there are eleven tricarboxylic acid (TCA) cycle-related genes, some of which are also involved in the development of congenital recessive neurological disorders and other cancers such as cutaneous and uterine leiomyomas, gastrointestinal tumors and renal cancer. Somatic or germline mutation of genes encoding enzymes catalyzing pivotal steps of the TCA cycle not only disrupts cellular respiration, but also causes severe alterations in mitochondrial metabolite pools. These latter alterations lead to aberrant accumulation of "oncometabolites" that, in the end, may lead to deregulation of the metabolic adaptation of cells to hypoxia, inhibition of the DNA repair processes and overall pathological changes in gene expression. In this review, we will address the TCA cycle mutations leading to the development of PPGL, and we will discuss the relevance of these mutations for the transformation of neural crest-derived cells and potential therapeutic approaches based on the emerging knowledge of underlying molecular alterations.es_ES
dc.description.sponsorshipFunding: This work was supported by the Instituto de Salud Carlos III (ISCIII), through the “Acción Estratégica en Salud” (AES) (projects PI18/00454 and PI17/01796, to A.C. and M.R., respectively, cofounded by the EuropeanRegional Development Fund (ERDF)), and the Paradi erence Foundation.es_ES
dc.language.isoenges_ES
dc.publisherMultidisciplinary Digital Publishing Institute (MDPI) es_ES
dc.type.hasVersionVoRes_ES
dc.rights.urihttp://creativecommons.org/licenses/by-nc-sa/4.0/*
dc.subjectTCA cyclees_ES
dc.subjectgermline mutationes_ES
dc.subjectparagangliomaes_ES
dc.subjectpheochromocytomaes_ES
dc.titlePheochromocytomas and Paragangliomas: Bypassing Cellular Respirationes_ES
dc.typejournal articlees_ES
dc.rights.licenseAtribución-NoComercial-CompartirIgual 4.0 Internacional*
dc.identifier.pubmedID31100940es_ES
dc.format.volume11es_ES
dc.format.number5es_ES
dc.format.page683es_ES
dc.identifier.doi10.3390/cancers11050683es_ES
dc.contributor.funderInstituto de Salud Carlos III 
dc.contributor.funderEuropean Regional Development Fund 
dc.description.peerreviewedes_ES
dc.relation.publisherversionhttps://doi.org/10.3390/cancers11050683.es_ES
dc.identifier.journalCancerses_ES
dc.repisalud.institucionCNIOes_ES
dc.repisalud.orgCNIOCNIO::Grupos de investigación::Grupo de Cáncer Endocrino Hereditarioes_ES
dc.relation.projectIDinfo:eu-repo/grantAgreement/ES/PI18/00454es_ES
dc.relation.projectIDinfo:eu-repo/grantAgreement/ES/PI17/01796es_ES
dc.rights.accessRightsopen accesses_ES


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Atribución-NoComercial-CompartirIgual 4.0 Internacional
Este Item está sujeto a una licencia Creative Commons: Atribución-NoComercial-CompartirIgual 4.0 Internacional