Use of MALDI-TOF Mass Spectrometry to Assay the Transthyretin V30M Mutation in Serum From a Liver Transplant Donor

Detalhes bibliográficos
Autor(a) principal: Lacerda, Pedro C.
Data de Publicação: 2015
Outros Autores: Moreira, Luciana, Vitorino, Rui, Costa, Paulo P.
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10400.18/3295
Resumo: Familial amyloidotic polyneuropathy (FAP), Portuguese type, or ATTR V30M is an autosomal dominant inherited disorder caused by a mutation in the transthyretin gene, with a valine/methionine substitution at position 30 (TTRV30M). ATTRV30Mis characterized by a progressive sensory/autonomic polyneuropathy and multiple organ dysfunction. Liver transplantation is the main therapeutic option,as it virtually eliminates the production of circulating TTR V30M, which occurs predominantly in the liver.
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spelling Use of MALDI-TOF Mass Spectrometry to Assay the Transthyretin V30M Mutation in Serum From a Liver Transplant DonorHereditary AmyloidosisATTR AmyloidosisTTR V30MMass SpectrometryMALDI-TOFMolecular biologyTransplantation surgeryDoenças GenéticasDeterminantes da Saúde e da DoençaFamilial amyloidotic polyneuropathy (FAP), Portuguese type, or ATTR V30M is an autosomal dominant inherited disorder caused by a mutation in the transthyretin gene, with a valine/methionine substitution at position 30 (TTRV30M). ATTRV30Mis characterized by a progressive sensory/autonomic polyneuropathy and multiple organ dysfunction. Liver transplantation is the main therapeutic option,as it virtually eliminates the production of circulating TTR V30M, which occurs predominantly in the liver.This work was supported by Portuguese Foundation for Science and Technology (FCT), European Union, QREN, FEDER and COMPETE for funding the QOPNA research unit (project PEst-C/QUI/UI0062/2013), RNEM (Portuguese Mass Spectrometry Network) and COST action BM1305. It was also funded by Instituto Nacional de Saúde Dr. Ricardo Jorge, INSA I.P., Portugal.Lippincott, Williams & Wilkins/ Transplantation SocietyRepositório Científico do Instituto Nacional de SaúdeLacerda, Pedro C.Moreira, LucianaVitorino, RuiCosta, Paulo P.2016-02-15T12:37:33Z2015-052015-05-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.18/3295engTransplantation. 2015 May;99(5):e33-4. doi: 10.1097/TP.0000000000000658.0041-133710.1097/TP.0000000000000658info:eu-repo/semantics/embargoedAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-07-20T15:39:51Zoai:repositorio.insa.pt:10400.18/3295Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T18:38:24.194558Repositório 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 Use of MALDI-TOF Mass Spectrometry to Assay the Transthyretin V30M Mutation in Serum From a Liver Transplant Donor
title Use of MALDI-TOF Mass Spectrometry to Assay the Transthyretin V30M Mutation in Serum From a Liver Transplant Donor
spellingShingle Use of MALDI-TOF Mass Spectrometry to Assay the Transthyretin V30M Mutation in Serum From a Liver Transplant Donor
Lacerda, Pedro C.
Hereditary Amyloidosis
ATTR Amyloidosis
TTR V30M
Mass Spectrometry
MALDI-TOF
Molecular biology
Transplantation surgery
Doenças Genéticas
Determinantes da Saúde e da Doença
title_short Use of MALDI-TOF Mass Spectrometry to Assay the Transthyretin V30M Mutation in Serum From a Liver Transplant Donor
title_full Use of MALDI-TOF Mass Spectrometry to Assay the Transthyretin V30M Mutation in Serum From a Liver Transplant Donor
title_fullStr Use of MALDI-TOF Mass Spectrometry to Assay the Transthyretin V30M Mutation in Serum From a Liver Transplant Donor
title_full_unstemmed Use of MALDI-TOF Mass Spectrometry to Assay the Transthyretin V30M Mutation in Serum From a Liver Transplant Donor
title_sort Use of MALDI-TOF Mass Spectrometry to Assay the Transthyretin V30M Mutation in Serum From a Liver Transplant Donor
author Lacerda, Pedro C.
author_facet Lacerda, Pedro C.
Moreira, Luciana
Vitorino, Rui
Costa, Paulo P.
author_role author
author2 Moreira, Luciana
Vitorino, Rui
Costa, Paulo P.
author2_role author
author
author
dc.contributor.none.fl_str_mv Repositório Científico do Instituto Nacional de Saúde
dc.contributor.author.fl_str_mv Lacerda, Pedro C.
Moreira, Luciana
Vitorino, Rui
Costa, Paulo P.
dc.subject.por.fl_str_mv Hereditary Amyloidosis
ATTR Amyloidosis
TTR V30M
Mass Spectrometry
MALDI-TOF
Molecular biology
Transplantation surgery
Doenças Genéticas
Determinantes da Saúde e da Doença
topic Hereditary Amyloidosis
ATTR Amyloidosis
TTR V30M
Mass Spectrometry
MALDI-TOF
Molecular biology
Transplantation surgery
Doenças Genéticas
Determinantes da Saúde e da Doença
description Familial amyloidotic polyneuropathy (FAP), Portuguese type, or ATTR V30M is an autosomal dominant inherited disorder caused by a mutation in the transthyretin gene, with a valine/methionine substitution at position 30 (TTRV30M). ATTRV30Mis characterized by a progressive sensory/autonomic polyneuropathy and multiple organ dysfunction. Liver transplantation is the main therapeutic option,as it virtually eliminates the production of circulating TTR V30M, which occurs predominantly in the liver.
publishDate 2015
dc.date.none.fl_str_mv 2015-05
2015-05-01T00:00:00Z
2016-02-15T12:37:33Z
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/10400.18/3295
url http://hdl.handle.net/10400.18/3295
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Transplantation. 2015 May;99(5):e33-4. doi: 10.1097/TP.0000000000000658.
0041-1337
10.1097/TP.0000000000000658
dc.rights.driver.fl_str_mv info:eu-repo/semantics/embargoedAccess
eu_rights_str_mv embargoedAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Lippincott, Williams & Wilkins/ Transplantation Society
publisher.none.fl_str_mv Lippincott, Williams & Wilkins/ Transplantation Society
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
repository.mail.fl_str_mv
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