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MicroRNA Profile, Putative Diagnostic Biomarkers and RNA-Based Therapies in the Inherited Lipid Storage Disease Niemann-Pick Type C

2023-09-23Artigo científico Acesso aberto
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dc.contributor.authorEncarnação, Marisa
dc.contributor.authorDavid, Hugo
dc.contributor.authorCoutinho, Maria Francisca
dc.contributor.authorMoreira, Luciana
dc.contributor.authorAlves, Sandra
dc.date.accessioned2024-02-14T10:19:10Z
dc.date.available2024-02-14T10:19:10Z
dc.date.issued2023-09-23
dc.description.abstractLipids are essential for cellular function and are tightly controlled at the transcriptional and post-transcriptional levels. Dysregulation of these pathways is associated with vascular diseases, diabetes, cancer, and several inherited metabolic disorders. MicroRNAs (miRNAs), in particular, are a family of post-transcriptional gene repressors associated with the regulation of many genes that encode proteins involved in multiple lipid metabolism pathways, thereby influencing their homeostasis. Thus, this class of non-coding RNAs (ncRNAs) has emerged as a promising therapeutic target for the treatment of lipid-related metabolic alterations. Most of these miRNAs act at an intracellular level, but in the past few years, a role for miRNAs as intercellular signaling molecules has also been uncovered since they can be transported in bodily fluids and used as potential biomarkers of lipid metabolic alterations. In this review, we point out the current knowledge on the miRNA signature in a lysosomal storage disorder associated with lipid dysfunction, Niemann-Pick type C, and discuss the potential use of miRNAs as biomarkers and therapeutic targets for RNA-based therapies.pt_PT
dc.description.sponsorshipThis research was funded by FCT (Fundação para a Ciência e Tecnologia), grant number EXPL/BTM-TEC/1477/2021; UIDB/00211/2020—Centro de Estudos de Ciência Animal/Center for the Study of Animal Science; LA/P/0059/2020—Laboratório Associado para Ciência Animal e Veterinária/Associate Laboratory for Animal and Veterinary Sciences.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationBiomedicines. 2023 Sep 23;11(10):2615. doi: 10.3390/biomedicines11102615. Reviewpt_PT
dc.identifier.doi10.3390/biomedicines11102615pt_PT
dc.identifier.issn2227-9059
dc.identifier.urihttp://hdl.handle.net/10400.18/9100
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherMDPIpt_PT
dc.relationRNA-Seq based methods to identify novel disease biomarkers in neurodegenerative metabolic diseases
dc.relationAssociate Laboratory for Animal and Veterinary Sciences
dc.relation.publisherversionhttps://www.mdpi.com/2227-9059/11/10/2615pt_PT
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.subjectNiemann-Pick Type Cpt_PT
dc.subjectRNA-based Therapiespt_PT
dc.subjectBiomarkerspt_PT
dc.subjectCholesterol Traffickingpt_PT
dc.subjectLipid Storage Disorderspt_PT
dc.subjectMetabolismpt_PT
dc.subjectMicroRNApt_PT
dc.subjectNiemann Pick Tipo Cpt_PT
dc.subjectDoenças Lisossomais de Sobrecargapt_PT
dc.subjectDoenças Genéticaspt_PT
dc.subjectGenética Humanapt_PT
dc.titleMicroRNA Profile, Putative Diagnostic Biomarkers and RNA-Based Therapies in the Inherited Lipid Storage Disease Niemann-Pick Type Cpt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.awardTitleRNA-Seq based methods to identify novel disease biomarkers in neurodegenerative metabolic diseases
oaire.awardTitleAssociate Laboratory for Animal and Veterinary Sciences
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/Concurso de Projetos de Investigação de Caráter Exploratório (PeX) em Todos os Domínios Científicos/EXPL%2FBTM-TEC%2F1477%2F2021/PT
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/6817 - DCRRNI ID/LA%2FP%2F0059%2F2020/PT
oaire.citation.issue10pt_PT
oaire.citation.startPage2615pt_PT
oaire.citation.titleBiomedicinespt_PT
oaire.citation.volume11pt_PT
oaire.fundingStreamConcurso de Projetos de Investigação de Caráter Exploratório (PeX) em Todos os Domínios Científicos
oaire.fundingStream6817 - DCRRNI ID
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.nameFundação para a Ciência e a Tecnologia
project.funder.nameFundação para a Ciência e a Tecnologia
rcaap.embargofctAcesso de acordo com política editorial da revista.pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
relation.isProjectOfPublication88e7e17f-1ff1-4024-b104-311c6dead773
relation.isProjectOfPublication93de5af7-dedc-4696-ae11-592584b020a8
relation.isProjectOfPublication.latestForDiscovery93de5af7-dedc-4696-ae11-592584b020a8

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