CFTR activity and mitochondrial function

Autores
Valdivieso, Ángel Gabriel; Santa Coloma, Tomás Antonio
Año de publicación
2013
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
Fil: Valdivieso, Ángel Gabriel. Pontificia Universidad Católica Argentina. Facultad de Ciencias Médicas. Instituto de Investigaciones Biomédicas. Laboratorio de Biología Celular y Molecular; Argentina
Fil: Santa Coloma, Tomás Antonio. Pontificia Universidad Católica Argentina. Facultad de Ciencias Médicas. Instituto de Investigaciones Biomédicas. Laboratorio de Biología Celular y Molecular; Argentina
Fil: Santa Coloma, Tomás Antonio. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Abstract: Cystic Fibrosis(CF)isafrequentandlethalautosomalrecessivedisease,causedbymutationsinthe gene encodingtheCysticFibrosisTransmembraneConductanceRegulator(CFTR).Beforethediscovery of the CFTR gene, severalhypothesesattemptedtoexplaintheetiologyofthisdisease,includingthe possible roleofachloridechannel,diversealterationsinmitochondrialfunctions,theoverexpressionof the lysosomalenzyme a-glucosidaseandadeficiencyinthecytosolicenzymeglucose6-phosphate dehydrogenase.Becauseofthediversemitochondrialchangesfound,someauthorsproposedthatthe affectedgeneshouldcodifyforamitochondrialprotein.Later,theCFTRcloningandthedemonstration of itschloridechannelactivityturnedthemitochondrial,lysosomalandcytosolichypothesesobsolete. However,inrecentyears,usingnewapproaches,severalinvestigatorsreportedsimilarornew alterationsofmitochondrialfunctionsinCysticFibrosis,thusrediscoveringapossibleroleof mitochondriainthisdisease.Here,wereviewtheseCFTR-drivenmitochondrialdefects,including differentialgeneexpression,alterationsinoxidativephosphorylation,calciumhomeostasis,oxidative stress, apoptosisandinnateimmuneresponse,whichmightexplainsomecharacteristicsofthe complexCFphenotypeandrevealspotentialnewtargetsfortherapy.
Fuente
Redox Biology Vol. 1, N° 1, 2013
Materia
MEDICINA
FIBROSIS QUISTICA
CFTR
GENES
ENFERMEDADES
FUNCION MITOCONDRIAL
Nivel de accesibilidad
acceso abierto
Condiciones de uso
https://creativecommons.org/licenses/by-nc-sa/4.0/
Repositorio
Repositorio Institucional (UCA)
Institución
Pontificia Universidad Católica Argentina
OAI Identificador
oai:ucacris:123456789/8676
Acceder
id RIUCA_75575db2e289010a180b80c27d3618a6
oai_identifier_str oai:ucacris:123456789/8676
network_acronym_str RIUCA
repository_id_str 2585
network_name_str Repositorio Institucional (UCA)
spelling CFTR activity and mitochondrial functionValdivieso, Ángel GabrielSanta Coloma, Tomás AntonioMEDICINAFIBROSIS QUISTICACFTRGENESENFERMEDADESFUNCION MITOCONDRIALFil: Valdivieso, Ángel Gabriel. Pontificia Universidad Católica Argentina. Facultad de Ciencias Médicas. Instituto de Investigaciones Biomédicas. Laboratorio de Biología Celular y Molecular; ArgentinaFil: Santa Coloma, Tomás Antonio. Pontificia Universidad Católica Argentina. Facultad de Ciencias Médicas. Instituto de Investigaciones Biomédicas. Laboratorio de Biología Celular y Molecular; ArgentinaFil: Santa Coloma, Tomás Antonio. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaAbstract: Cystic Fibrosis(CF)isafrequentandlethalautosomalrecessivedisease,causedbymutationsinthe gene encodingtheCysticFibrosisTransmembraneConductanceRegulator(CFTR).Beforethediscovery of the CFTR gene, severalhypothesesattemptedtoexplaintheetiologyofthisdisease,includingthe possible roleofachloridechannel,diversealterationsinmitochondrialfunctions,theoverexpressionof the lysosomalenzyme a-glucosidaseandadeficiencyinthecytosolicenzymeglucose6-phosphate dehydrogenase.Becauseofthediversemitochondrialchangesfound,someauthorsproposedthatthe affectedgeneshouldcodifyforamitochondrialprotein.Later,theCFTRcloningandthedemonstration of itschloridechannelactivityturnedthemitochondrial,lysosomalandcytosolichypothesesobsolete. However,inrecentyears,usingnewapproaches,severalinvestigatorsreportedsimilarornew alterationsofmitochondrialfunctionsinCysticFibrosis,thusrediscoveringapossibleroleof mitochondriainthisdisease.Here,wereviewtheseCFTR-drivenmitochondrialdefects,including differentialgeneexpression,alterationsinoxidativephosphorylation,calciumhomeostasis,oxidative stress, apoptosisandinnateimmuneresponse,whichmightexplainsomecharacteristicsofthe complexCFphenotypeandrevealspotentialnewtargetsfortherapy.Elsevier B.V.2013info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfhttps://repositorio.uca.edu.ar/handle/123456789/86762213-2317http://dx.doi.org/10.1016/j.redox.2012.11.007Valdivieso AG, Santa Coloma TA. (2013) CFTR activity and mitochondrial function. Redox Biology 1(1). Disponible en: https://repositorio.uca.edu.ar/handle/123456789/8676Redox Biology Vol. 1, N° 1, 2013reponame:Repositorio Institucional (UCA)instname:Pontificia Universidad Católica Argentinaenginfo:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/4.0/2025-07-03T10:56:54Zoai:ucacris:123456789/8676instacron:UCAInstitucionalhttps://repositorio.uca.edu.ar/Universidad privadaNo correspondehttps://repositorio.uca.edu.ar/oaiclaudia_fernandez@uca.edu.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:25852025-07-03 10:56:54.979Repositorio Institucional (UCA) - Pontificia Universidad Católica Argentinafalse
dc.title.none.fl_str_mv CFTR activity and mitochondrial function
title CFTR activity and mitochondrial function
spellingShingle CFTR activity and mitochondrial function
Valdivieso, Ángel Gabriel
MEDICINA
FIBROSIS QUISTICA
CFTR
GENES
ENFERMEDADES
FUNCION MITOCONDRIAL
title_short CFTR activity and mitochondrial function
title_full CFTR activity and mitochondrial function
title_fullStr CFTR activity and mitochondrial function
title_full_unstemmed CFTR activity and mitochondrial function
title_sort CFTR activity and mitochondrial function
dc.creator.none.fl_str_mv Valdivieso, Ángel Gabriel
Santa Coloma, Tomás Antonio
author Valdivieso, Ángel Gabriel
author_facet Valdivieso, Ángel Gabriel
Santa Coloma, Tomás Antonio
author_role author
author2 Santa Coloma, Tomás Antonio
author2_role author
dc.subject.none.fl_str_mv MEDICINA
FIBROSIS QUISTICA
CFTR
GENES
ENFERMEDADES
FUNCION MITOCONDRIAL
topic MEDICINA
FIBROSIS QUISTICA
CFTR
GENES
ENFERMEDADES
FUNCION MITOCONDRIAL
dc.description.none.fl_txt_mv Fil: Valdivieso, Ángel Gabriel. Pontificia Universidad Católica Argentina. Facultad de Ciencias Médicas. Instituto de Investigaciones Biomédicas. Laboratorio de Biología Celular y Molecular; Argentina
Fil: Santa Coloma, Tomás Antonio. Pontificia Universidad Católica Argentina. Facultad de Ciencias Médicas. Instituto de Investigaciones Biomédicas. Laboratorio de Biología Celular y Molecular; Argentina
Fil: Santa Coloma, Tomás Antonio. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Abstract: Cystic Fibrosis(CF)isafrequentandlethalautosomalrecessivedisease,causedbymutationsinthe gene encodingtheCysticFibrosisTransmembraneConductanceRegulator(CFTR).Beforethediscovery of the CFTR gene, severalhypothesesattemptedtoexplaintheetiologyofthisdisease,includingthe possible roleofachloridechannel,diversealterationsinmitochondrialfunctions,theoverexpressionof the lysosomalenzyme a-glucosidaseandadeficiencyinthecytosolicenzymeglucose6-phosphate dehydrogenase.Becauseofthediversemitochondrialchangesfound,someauthorsproposedthatthe affectedgeneshouldcodifyforamitochondrialprotein.Later,theCFTRcloningandthedemonstration of itschloridechannelactivityturnedthemitochondrial,lysosomalandcytosolichypothesesobsolete. However,inrecentyears,usingnewapproaches,severalinvestigatorsreportedsimilarornew alterationsofmitochondrialfunctionsinCysticFibrosis,thusrediscoveringapossibleroleof mitochondriainthisdisease.Here,wereviewtheseCFTR-drivenmitochondrialdefects,including differentialgeneexpression,alterationsinoxidativephosphorylation,calciumhomeostasis,oxidative stress, apoptosisandinnateimmuneresponse,whichmightexplainsomecharacteristicsofthe complexCFphenotypeandrevealspotentialnewtargetsfortherapy.
description Fil: Valdivieso, Ángel Gabriel. Pontificia Universidad Católica Argentina. Facultad de Ciencias Médicas. Instituto de Investigaciones Biomédicas. Laboratorio de Biología Celular y Molecular; Argentina
publishDate 2013
dc.date.none.fl_str_mv 2013
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
http://purl.org/coar/resource_type/c_6501
info:ar-repo/semantics/articulo
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://repositorio.uca.edu.ar/handle/123456789/8676
2213-2317
http://dx.doi.org/10.1016/j.redox.2012.11.007
Valdivieso AG, Santa Coloma TA. (2013) CFTR activity and mitochondrial function. Redox Biology 1(1). Disponible en: https://repositorio.uca.edu.ar/handle/123456789/8676
url https://repositorio.uca.edu.ar/handle/123456789/8676
http://dx.doi.org/10.1016/j.redox.2012.11.007
identifier_str_mv 2213-2317
Valdivieso AG, Santa Coloma TA. (2013) CFTR activity and mitochondrial function. Redox Biology 1(1). Disponible en: https://repositorio.uca.edu.ar/handle/123456789/8676
dc.language.none.fl_str_mv eng
language eng
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by-nc-sa/4.0/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by-nc-sa/4.0/
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Elsevier B.V.
publisher.none.fl_str_mv Elsevier B.V.
dc.source.none.fl_str_mv Redox Biology Vol. 1, N° 1, 2013
reponame:Repositorio Institucional (UCA)
instname:Pontificia Universidad Católica Argentina
reponame_str Repositorio Institucional (UCA)
collection Repositorio Institucional (UCA)
instname_str Pontificia Universidad Católica Argentina
repository.name.fl_str_mv Repositorio Institucional (UCA) - Pontificia Universidad Católica Argentina
repository.mail.fl_str_mv claudia_fernandez@uca.edu.ar
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score 12.976206

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