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dc.rights.licenseopenen_US
dc.contributor.authorJERICO, Daniel
dc.contributor.authorCORDOBA, Karol M.
dc.contributor.authorSAMPEDRO, Ana
dc.contributor.authorJIANG, Lei
hal.structure.identifierChimie et Biologie des Membranes et des Nanoobjets [CBMN]
dc.contributor.authorJOUCLA, Gilles
hal.structure.identifierChimie et Biologie des Membranes et des Nanoobjets [CBMN]
dc.contributor.authorCABANNE, Charlotte
dc.contributor.authorLANCIEGO, Jose Luis
dc.contributor.authorMARTINI, Paolo G. V.
dc.contributor.authorBERRAONDO, Pedro
dc.contributor.authorAVILA, Matias A.
dc.contributor.authorFONTANELLAS, Antonio
dc.date.accessioned2023-04-06T08:06:18Z
dc.date.available2023-04-06T08:06:18Z
dc.date.issued2022-12-01
dc.identifier.issn2075-1729en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/172837
dc.description.abstractEnRare diseases, especially monogenic diseases, which usually affect a single target protein, have attracted growing interest in drug research by encouraging pharmaceutical companies to design and develop therapeutic products to be tested in the clinical arena. Acute intermittent porphyria (AIP) is one of these rare diseases. AIP is characterized by haploinsufficiency in the third enzyme of the heme biosynthesis pathway. Identification of the liver as the target organ and a detailed molecular characterization have enabled the development and approval of several therapies to manage this disease, such as glucose infusions, heme replenishment, and, more recently, an siRNA strategy that aims to down-regulate the key limiting enzyme of heme synthesis. Given the involvement of hepatic hemoproteins in essential metabolic functions, important questions regarding energy supply, antioxidant and detoxifying responses, and glucose homeostasis remain to be elucidated. This review reports recent insights into the pathogenesis of acute attacks and provides an update on emerging treatments aimed at increasing the activity of the deficient enzyme in the liver and restoring the physiological regulation of the pathway. While further studies are needed to optimize gene therapy vectors or large-scale production of liver-targeted PBGD proteins, effective protection of PBGD mRNA against the acute attacks has already been successfully confirmed in mice and large animals, and mRNA transfer technology is being tested in several clinical trials for metabolic diseases.
dc.language.isoENen_US
dc.rightsAttribution-NonCommercial-NoDerivs 3.0 United States*
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/3.0/us/*
dc.subject.enRare metabolic diseases
dc.subject.enHemoproteins
dc.subject.enLiver function
dc.subject.enMitochondrial cytochromes
dc.subject.enAntioxidant and detoxifying responses
dc.subject.enGlucose homeostasis
dc.subject.enSystemic messenger RNA therapy
dc.subject.enAAV-mediated liver-directed gene therapy
dc.subject.enEnzyme replacement therapy
dc.title.enRecent Insights into the Pathogenesis of Acute Porphyria Attacks and Increasing Hepatic PBGD as an Etiological Treatment
dc.typeArticle de revueen_US
dc.identifier.doi10.3390/life12111858en_US
dc.subject.halChimie/Matériauxen_US
bordeaux.journalLifeen_US
bordeaux.volume12en_US
bordeaux.hal.laboratoriesCBMN : Chimie & de Biologie des Membranes & des Nano-objets - UMR 5248en_US
bordeaux.issue11en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.institutionBordeaux INPen_US
bordeaux.institutionCNRSen_US
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
hal.identifierhal-04060248
hal.version1
hal.date.transferred2023-04-06T08:06:32Z
hal.exporttrue
dc.rights.ccCC BYen_US
bordeaux.COinSctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=Life&rft.date=2022-12-01&rft.volume=12&rft.issue=11&rft.eissn=2075-1729&rft.issn=2075-1729&rft.au=JERICO,%20Daniel&CORDOBA,%20Karol%20M.&SAMPEDRO,%20Ana&JIANG,%20Lei&JOUCLA,%20Gilles&rft.genre=article


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