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Less Is More: Substrate Reduction Therapy for Lysosomal Storage Disorders

2016-07-04Journal article Open access
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dc.contributor.authorCoutinho, Maria
dc.contributor.authorSantos, Juliana
dc.contributor.authorAlves, Sandra
dc.date.accessioned2017-02-20T15:32:26Z
dc.date.available2017-02-20T15:32:26Z
dc.date.issued2016-07-04
dc.descriptionThis article has been corrected in: Coutinho et al. Less Is More: Substrate Reduction Therapy for Lysosomal Storage Disorders. Int. J. Mol. Sci. 2016, 17, 1065. Int. J. Mol. Sci. 2016, 17, 1065. Int J Mol Sci. 2017 Jan 17;18(1). pii: E178. doi: 10.3390/ijms18010178. Disponível em: http://www.mdpi.com/1422-0067/18/1/178pt_PT
dc.description.abstractLysosomal storage diseases (LSDs) are a group of rare, life-threatening genetic disorders, usually caused by a dysfunction in one of the many enzymes responsible for intralysosomal digestion. Even though no cure is available for any LSD, a few treatment strategies do exist. Traditionally, efforts have been mainly targeting the functional loss of the enzyme, by injection of a recombinant formulation, in a process called enzyme replacement therapy (ERT), with no impact on neuropathology. This ineffectiveness, together with its high cost and lifelong dependence is amongst the main reasons why additional therapeutic approaches are being (and have to be) investigated: chaperone therapy; gene enhancement; gene therapy; and, alternatively, substrate reduction therapy (SRT), whose aim is to prevent storage not by correcting the original enzymatic defect but, instead, by decreasing the levels of biosynthesis of the accumulating substrate(s). Here we review the concept of substrate reduction, highlighting the major breakthroughs in the field and discussing the future of SRT, not only as a monotherapy but also, especially, as complementary approach for LSDs.pt_PT
dc.description.sponsorshipThis work was partially supported by Fundação Millennium bcp (bcp/LIM/DGH/2014). Maria Francisca Coutinho is grantee from the FCT (SFRH/BPD/101965/2014).pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationInt J Mol Sci. 2016 Jul 4;17(7). pii: E1065. doi: 10.3390/ijms17071065. Reviewpt_PT
dc.identifier.doi10.3390/ijms17071065pt_PT
dc.identifier.issn1661-6596
dc.identifier.urihttp://hdl.handle.net/10400.18/4287
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherMDPIpt_PT
dc.relation.publisherversionhttp://www.mdpi.com/1422-0067/17/7/1065pt_PT
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.subjectSubstrate Reduction Therapy (SRT)pt_PT
dc.subjectMiglustatpt_PT
dc.subjectEeligluistat Tartratept_PT
dc.subjectGenisteinpt_PT
dc.subjectGaucher Disease (GD)pt_PT
dc.subjectNiemann-Pick Type C (NPC)pt_PT
dc.subjectMucopolysaccharidosis Type III (MPS III; Sanfilippo Syndrome)pt_PT
dc.subjectcombination Therapypt_PT
dc.subjectDoenças Genéticaspt_PT
dc.titleLess Is More: Substrate Reduction Therapy for Lysosomal Storage Disorderspt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.startPageE1065pt_PT
oaire.citation.titleInternational Journal of Molecular Sciencespt_PT
oaire.citation.volume17(7)pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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