Less Is More: Substrate Reduction Therapy for Lysosomal Storage Disorders

Detalhes bibliográficos
Autor(a) principal: Coutinho, Maria
Data de Publicação: 2016
Outros Autores: Santos, Juliana, Alves, Sandra
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10400.18/4287
Resumo: This 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/1422-0067/18/1/178
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spelling Less Is More: Substrate Reduction Therapy for Lysosomal Storage DisordersSubstrate Reduction Therapy (SRT)MiglustatEeligluistat TartrateGenisteinGaucher Disease (GD)Niemann-Pick Type C (NPC)Mucopolysaccharidosis Type III (MPS III; Sanfilippo Syndrome)combination TherapyDoenças GenéticasThis 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/1422-0067/18/1/178Lysosomal 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.This work was partially supported by Fundação Millennium bcp (bcp/LIM/DGH/2014). Maria Francisca Coutinho is grantee from the FCT (SFRH/BPD/101965/2014).MDPIRepositório Científico do Instituto Nacional de SaúdeCoutinho, MariaSantos, JulianaAlves, Sandra2017-02-20T15:32:26Z2016-07-042016-07-04T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfapplication/pdfhttp://hdl.handle.net/10400.18/4287engInt J Mol Sci. 2016 Jul 4;17(7). pii: E1065. doi: 10.3390/ijms17071065. Review1661-659610.3390/ijms17071065info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-07-20T15:40:22Zoai:repositorio.insa.pt:10400.18/4287Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T18:39:16.329358Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Less Is More: Substrate Reduction Therapy for Lysosomal Storage Disorders
title Less Is More: Substrate Reduction Therapy for Lysosomal Storage Disorders
spellingShingle Less Is More: Substrate Reduction Therapy for Lysosomal Storage Disorders
Coutinho, Maria
Substrate Reduction Therapy (SRT)
Miglustat
Eeligluistat Tartrate
Genistein
Gaucher Disease (GD)
Niemann-Pick Type C (NPC)
Mucopolysaccharidosis Type III (MPS III; Sanfilippo Syndrome)
combination Therapy
Doenças Genéticas
title_short Less Is More: Substrate Reduction Therapy for Lysosomal Storage Disorders
title_full Less Is More: Substrate Reduction Therapy for Lysosomal Storage Disorders
title_fullStr Less Is More: Substrate Reduction Therapy for Lysosomal Storage Disorders
title_full_unstemmed Less Is More: Substrate Reduction Therapy for Lysosomal Storage Disorders
title_sort Less Is More: Substrate Reduction Therapy for Lysosomal Storage Disorders
author Coutinho, Maria
author_facet Coutinho, Maria
Santos, Juliana
Alves, Sandra
author_role author
author2 Santos, Juliana
Alves, Sandra
author2_role author
author
dc.contributor.none.fl_str_mv Repositório Científico do Instituto Nacional de Saúde
dc.contributor.author.fl_str_mv Coutinho, Maria
Santos, Juliana
Alves, Sandra
dc.subject.por.fl_str_mv Substrate Reduction Therapy (SRT)
Miglustat
Eeligluistat Tartrate
Genistein
Gaucher Disease (GD)
Niemann-Pick Type C (NPC)
Mucopolysaccharidosis Type III (MPS III; Sanfilippo Syndrome)
combination Therapy
Doenças Genéticas
topic Substrate Reduction Therapy (SRT)
Miglustat
Eeligluistat Tartrate
Genistein
Gaucher Disease (GD)
Niemann-Pick Type C (NPC)
Mucopolysaccharidosis Type III (MPS III; Sanfilippo Syndrome)
combination Therapy
Doenças Genéticas
description This 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/1422-0067/18/1/178
publishDate 2016
dc.date.none.fl_str_mv 2016-07-04
2016-07-04T00:00:00Z
2017-02-20T15:32:26Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10400.18/4287
url http://hdl.handle.net/10400.18/4287
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Int J Mol Sci. 2016 Jul 4;17(7). pii: E1065. doi: 10.3390/ijms17071065. Review
1661-6596
10.3390/ijms17071065
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
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dc.publisher.none.fl_str_mv MDPI
publisher.none.fl_str_mv MDPI
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
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reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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