Advances in sphingolipidoses: CRISPR-Cas9 editing as an option for modelling and therapy

Detalhes bibliográficos
Autor(a) principal: Amaral, Olga
Data de Publicação: 2019
Outros Autores: Santos, Renato
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10400.18/6467
Resumo: We acknowledge the collaboration of Meg Quint in the proofreading of the manuscript and the team at the Unit of R&D of DGH at INSA-Porto for the agreeable environment provided.
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spelling Advances in sphingolipidoses: CRISPR-Cas9 editing as an option for modelling and therapyHuman GeneticsCRISPR-Cas9Gene EditingSphingolipidosesDisesase ModellingGenética HumanaDoenças GenéticasWe acknowledge the collaboration of Meg Quint in the proofreading of the manuscript and the team at the Unit of R&D of DGH at INSA-Porto for the agreeable environment provided.Sphingolipidoses are inherited genetic diseases characterized by the accumulation of glycosphingolipids. Sphingolipidoses (SP), which usually involve the loss of sphingolipid hydrolase function, are of lysosomal origin, and represent an important group of rare diseases among lysosomal storage disorders. Initial treatments consisted of enzyme replacement therapy, but, in recent decades, various therapeutic approaches have been developed. However, these commonly used treatments for SP fail to be fully effective and do not penetrate the blood-brain barrier. New approaches, such as genome editing, have great potential for both the treatment and study of sphingolipidoses. Here, we review the most recent advances in the treatment and modelling of SP through the application of CRISPR-Cas9 genome editing. CRISPR-Cas9 is currently the most widely used method for genome editing. This technique is versatile; it can be used for altering the regulation of genes involved in sphingolipid degradation and synthesis pathways, interrogating gene function, generating knock out models, or knocking in mutations. CRISPR-Cas9 genome editing is being used as an approach to disease treatment, but more frequently it is utilized to create models of disease. New CRISPR-Cas9-based tools of gene editing with diminished off-targeting effects are evolving and seem to be more promising for the correction of individual mutations. Emerging Prime results and CRISPR-Cas9 difficulties are also discussed.Fundação para a Ciência e a Tecnologia (Portugal, FCT) project PTDC/BIM-MEC/4762/2014.MDPIRepositório Científico do Instituto Nacional de SaúdeAmaral, OlgaSantos, Renato2020-04-20T19:53:21Z2019-11-242019-11-24T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.18/6467engInt J Mol Sci . 2019 Nov 24;20(23):5897. doi: 10.3390/ijms20235897. Review1661-659610.3390/ijms20235897info: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:RCAAP2023-07-20T15:41:37Zoai:repositorio.insa.pt:10400.18/6467Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T18:41:24.842697Repositório 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 Advances in sphingolipidoses: CRISPR-Cas9 editing as an option for modelling and therapy
title Advances in sphingolipidoses: CRISPR-Cas9 editing as an option for modelling and therapy
spellingShingle Advances in sphingolipidoses: CRISPR-Cas9 editing as an option for modelling and therapy
Amaral, Olga
Human Genetics
CRISPR-Cas9
Gene Editing
Sphingolipidoses
Disesase Modelling
Genética Humana
Doenças Genéticas
title_short Advances in sphingolipidoses: CRISPR-Cas9 editing as an option for modelling and therapy
title_full Advances in sphingolipidoses: CRISPR-Cas9 editing as an option for modelling and therapy
title_fullStr Advances in sphingolipidoses: CRISPR-Cas9 editing as an option for modelling and therapy
title_full_unstemmed Advances in sphingolipidoses: CRISPR-Cas9 editing as an option for modelling and therapy
title_sort Advances in sphingolipidoses: CRISPR-Cas9 editing as an option for modelling and therapy
author Amaral, Olga
author_facet Amaral, Olga
Santos, Renato
author_role author
author2 Santos, Renato
author2_role author
dc.contributor.none.fl_str_mv Repositório Científico do Instituto Nacional de Saúde
dc.contributor.author.fl_str_mv Amaral, Olga
Santos, Renato
dc.subject.por.fl_str_mv Human Genetics
CRISPR-Cas9
Gene Editing
Sphingolipidoses
Disesase Modelling
Genética Humana
Doenças Genéticas
topic Human Genetics
CRISPR-Cas9
Gene Editing
Sphingolipidoses
Disesase Modelling
Genética Humana
Doenças Genéticas
description We acknowledge the collaboration of Meg Quint in the proofreading of the manuscript and the team at the Unit of R&D of DGH at INSA-Porto for the agreeable environment provided.
publishDate 2019
dc.date.none.fl_str_mv 2019-11-24
2019-11-24T00:00:00Z
2020-04-20T19:53:21Z
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/10400.18/6467
url http://hdl.handle.net/10400.18/6467
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Int J Mol Sci . 2019 Nov 24;20(23):5897. doi: 10.3390/ijms20235897. Review
1661-6596
10.3390/ijms20235897
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
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
institution RCAAP
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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