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Quantitative Proteomic Analysis of Skeletal Muscle Detergent-Resistant Membranes in a Smith-Lemli-Opitz Syndrome Mouse

2018-08Capítulo de livro Acesso restrito
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dc.contributor.authorCardoso, Maria Luís
dc.contributor.authorVitorino, Rui
dc.contributor.authorReguengo, Henrique
dc.contributor.authorCasal, Susana
dc.contributor.authorFernandes, Rui
dc.contributor.authorDuarte, Isabel
dc.contributor.authorLamas, Sofia
dc.contributor.authorAlves, Renato
dc.contributor.authorAmado, Francisco
dc.contributor.authorMarques, Franklim
dc.date.accessioned2019-03-08T17:28:49Z
dc.date.available2019-03-08T17:28:49Z
dc.date.issued2018-08
dc.description.abstractSmith-Lemli-Opitz syndrome (SLOS) is an inborn error of metabolism affecting the last step of cholesterol biosynthesis. It is characterized by a deficiency of the enzyme 7- dehydrocholesterol reductase and accumulation of 7-dehydrocholesterol (7DHC) in cells and body fluids. Given the similarities between 7DHC and cholesterol, 7DHC can be incorporated into cell membranes in lieu of cholesterol. Nevertheless, due to their structural differences and distinct affinity to other membrane components, this substitution alters membrane properties and one can expect to find abnormalities in membrane protein composition. In order to identify differences in membrane proteins that could facilitate our understanding of SLOS physiopathology, we isolated detergent-resistant membranes (DRMs) from the skeletal muscle of Dhcr7T93M/T93M mice and C57/BL6 controls and performed comparative proteomic analysis using iTRAQ for peptide quantification. A total of 133 proteins were identified in the DRM fraction: 17 (13%) proteins demonstrated increased expression in SLOS mice, whereas, 21 (16%) showed decreased expression. Characterization of functional point of view and bioenergetics pathway and transmembrane transport responded to the major differences between the two groups of animals.pt_PT
dc.description.sponsorshipThe authors are thankful to Prof Forbes D. Porter and Doctor Christopher A. Wassif from NIH who kindly provided the genetically modified mice model of SLOS used in this investigation. FDP and CAW are supported by the intramural research program of 30 the Eunice Kennedy Shriver National Institute of Child Health and Human Development. Requimte received finnantial support from the European Union (FEDER funds POCI/01/0145/ FEDER/007265) and National Funds (FCT/MEC, Fundação para a Ciência e Tecnologia and Ministério da Educação e Ciência) under the Partnership Agreement PT2020 UID/QUI/50006/2013. This work received financial support from FCT/MEC through national funds and co-financed by FEDER, under the Partnership Agreement PT2020 (UID/MULTI/04378/2013 – POCI/01/0145/ FERDER/007728).pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationIn: Nagpal ML. (ed). Cholesterol: good, Bad and the Heart. IntechOpen, 2018, pp. 125-143. (Chapter 8). doi:10.5772/intechopen.78037pt_PT
dc.identifier.doi10.5772/intechopen.78037pt_PT
dc.identifier.isbn978-1-78923-587-6
dc.identifier.isbn978-1-78923-586-9
dc.identifier.urihttp://hdl.handle.net/10400.18/6116
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherIntechOpenpt_PT
dc.relation.publisherversionhttps://www.intechopen.com/books/cholesterol-good-bad-and-the-heartpt_PT
dc.subjectSkeletal Musclept_PT
dc.subjectDetergent-resistant Membranes (DRMs)pt_PT
dc.subjectSmith-Lemli-Opitz Syndromept_PT
dc.subjectSLOpt_PT
dc.subjectComparative Proteomicspt_PT
dc.subjectMouse Modelpt_PT
dc.subjectDhcr7T93M/T93Mpt_PT
dc.titleQuantitative Proteomic Analysis of Skeletal Muscle Detergent-Resistant Membranes in a Smith-Lemli-Opitz Syndrome Mousept_PT
dc.typebook part
dspace.entity.typePublication
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/5876/UID%2FQUI%2F50006%2F2013/PT
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/5876/UID%2FMulti%2F04378%2F2013/PT
oaire.citation.endPage143pt_PT
oaire.citation.startPage125pt_PT
oaire.citation.titleCholesterol: good, Bad and the Heartpt_PT
oaire.fundingStream5876
oaire.fundingStream5876
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.nameFundação para a Ciência e a Tecnologia
project.funder.nameFundação para a Ciência e a Tecnologia
rcaap.rightsembargoedAccesspt_PT
rcaap.typebookPartpt_PT
relation.isProjectOfPublicationd7883dc7-6335-4f26-8bd0-e2ea4bb07c07
relation.isProjectOfPublication72797dcd-bef0-4686-8fd4-4ffc88f8cb5b
relation.isProjectOfPublication.latestForDiscoveryd7883dc7-6335-4f26-8bd0-e2ea4bb07c07

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