CDG therapies: from bench to bedside
| Autor(a) principal: | |
|---|---|
| Data de Publicação: | 2018 |
| Outros Autores: | , , , , , , , |
| Tipo de documento: | Outros |
| Idioma: | eng |
| Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
| Texto Completo: | https://doi.org/10.3390/ijms19051304 |
Resumo: | SFRH/BD/124326/2016 |
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CDG therapies: from bench to bedsideAnimal modelsBiomarkersClinical trialsCongenital disorders of glycosylation (CDG)DiagnosisDietary supplementationGalactoseMannosePharmacological chaperonesTherapyCatalysisMolecular BiologySpectroscopyComputer Science ApplicationsPhysical and Theoretical ChemistryOrganic ChemistryInorganic ChemistrySFRH/BD/124326/2016Congenital disorders of glycosylation (CDG) are a group of genetic disorders that affect protein and lipid glycosylation and glycosylphosphatidylinositol synthesis. More than 100 different disorders have been reported and the number is rapidly increasing. Since glycosylation is an essential post-translational process, patients present a large range of symptoms and variable phenotypes, from very mild to extremely severe. Only for few CDG, potentially curative therapies are being used, including dietary supplementation (e.g., galactose for PGM1-CDG, fucose for SLC35C1-CDG, Mn2+ for TMEM165-CDG or mannose for MPI-CDG) and organ transplantation (e.g., liver for MPI-CDG and heart for DOLK-CDG). However, for the majority of patients, only symptomatic and preventive treatments are in use. This constitutes a burden for patients, care-givers and ultimately the healthcare system. Innovative diagnostic approaches, in vitro and in vivo models and novel biomarkers have been developed that can lead to novel therapeutic avenues aiming to ameliorate the patients’ symptoms and lives. This review summarizes the advances in therapeutic approaches for CDG.DCV - Departamento de Ciências da VidaUCIBIO - Applied Molecular Biosciences UnitRUNBrasil, SandraPascoal, CarlotaFrancisco, RitaMarques-da-Silva, DorindaAndreotti, GiuseppinaVideira, Paula A.Morava, EvaJaeken, JaakDos Reis Ferreira, Vanessa2019-02-25T23:17:19Z2018-05-012018-05-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/otherapplication/pdfhttps://doi.org/10.3390/ijms19051304eng1661-6596PURE: 4156810http://www.scopus.com/inward/record.url?scp=85046299553&partnerID=8YFLogxKhttps://doi.org/10.3390/ijms19051304info: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:RCAAP2024-05-22T17:37:25Zoai:run.unl.pt:10362/61645Portal AgregadorONGhttps://www.rcaap.pt/oai/openairemluisa.alvim@gmail.comopendoar:71602024-05-22T17:37:25Repositório 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 |
CDG therapies: from bench to bedside |
| title |
CDG therapies: from bench to bedside |
| spellingShingle |
CDG therapies: from bench to bedside Brasil, Sandra Animal models Biomarkers Clinical trials Congenital disorders of glycosylation (CDG) Diagnosis Dietary supplementation Galactose Mannose Pharmacological chaperones Therapy Catalysis Molecular Biology Spectroscopy Computer Science Applications Physical and Theoretical Chemistry Organic Chemistry Inorganic Chemistry |
| title_short |
CDG therapies: from bench to bedside |
| title_full |
CDG therapies: from bench to bedside |
| title_fullStr |
CDG therapies: from bench to bedside |
| title_full_unstemmed |
CDG therapies: from bench to bedside |
| title_sort |
CDG therapies: from bench to bedside |
| author |
Brasil, Sandra |
| author_facet |
Brasil, Sandra Pascoal, Carlota Francisco, Rita Marques-da-Silva, Dorinda Andreotti, Giuseppina Videira, Paula A. Morava, Eva Jaeken, Jaak Dos Reis Ferreira, Vanessa |
| author_role |
author |
| author2 |
Pascoal, Carlota Francisco, Rita Marques-da-Silva, Dorinda Andreotti, Giuseppina Videira, Paula A. Morava, Eva Jaeken, Jaak Dos Reis Ferreira, Vanessa |
| author2_role |
author author author author author author author author |
| dc.contributor.none.fl_str_mv |
DCV - Departamento de Ciências da Vida UCIBIO - Applied Molecular Biosciences Unit RUN |
| dc.contributor.author.fl_str_mv |
Brasil, Sandra Pascoal, Carlota Francisco, Rita Marques-da-Silva, Dorinda Andreotti, Giuseppina Videira, Paula A. Morava, Eva Jaeken, Jaak Dos Reis Ferreira, Vanessa |
| dc.subject.por.fl_str_mv |
Animal models Biomarkers Clinical trials Congenital disorders of glycosylation (CDG) Diagnosis Dietary supplementation Galactose Mannose Pharmacological chaperones Therapy Catalysis Molecular Biology Spectroscopy Computer Science Applications Physical and Theoretical Chemistry Organic Chemistry Inorganic Chemistry |
| topic |
Animal models Biomarkers Clinical trials Congenital disorders of glycosylation (CDG) Diagnosis Dietary supplementation Galactose Mannose Pharmacological chaperones Therapy Catalysis Molecular Biology Spectroscopy Computer Science Applications Physical and Theoretical Chemistry Organic Chemistry Inorganic Chemistry |
| description |
SFRH/BD/124326/2016 |
| publishDate |
2018 |
| dc.date.none.fl_str_mv |
2018-05-01 2018-05-01T00:00:00Z 2019-02-25T23:17:19Z |
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info:eu-repo/semantics/publishedVersion |
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info:eu-repo/semantics/other |
| format |
other |
| status_str |
publishedVersion |
| dc.identifier.uri.fl_str_mv |
https://doi.org/10.3390/ijms19051304 |
| url |
https://doi.org/10.3390/ijms19051304 |
| dc.language.iso.fl_str_mv |
eng |
| language |
eng |
| dc.relation.none.fl_str_mv |
1661-6596 PURE: 4156810 http://www.scopus.com/inward/record.url?scp=85046299553&partnerID=8YFLogxK https://doi.org/10.3390/ijms19051304 |
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info:eu-repo/semantics/openAccess |
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openAccess |
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application/pdf |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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mluisa.alvim@gmail.com |
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