CFTR activity and mitochondrial function

Abstract: Cystic Fibrosis(CF)isafrequentandlethalautosomalrecessivedisease,causedbymutationsinthe gene encodingtheCysticFibrosisTransmembraneConductanceRegulator(CFTR).Beforethediscovery of the CFTR gene, severalhypothesesattemptedtoexplaintheetiologyofthisdisease,includingthe possible roleofachl...

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Detalles Bibliográficos
Autores principales: Valdivieso, Ángel Gabriel, Santa Coloma, Tomás Antonio
Formato: Artículo
Lenguaje:Inglés
Publicado: Elsevier B.V. 2019
Materias:
MEDICINA
FIBROSIS QUISTICA
CFTR
GENES
ENFERMEDADES
FUNCION MITOCONDRIAL
Acceso en línea:https://repositorio.uca.edu.ar/handle/123456789/8676
http://dx.doi.org/10.1016/j.redox.2012.11.007
Aporte de:
Repositorio Institucional de la Universidad Católica Argentina (UCA) de Universidad Católica Argentina
id I33-R139123456789-8676
record_format dspace
institution Universidad Católica Argentina
institution_str I-33
repository_str R-139
collection Repositorio Institucional de la Universidad Católica Argentina (UCA)
language Inglés
topic MEDICINA
FIBROSIS QUISTICA
CFTR
GENES
ENFERMEDADES
FUNCION MITOCONDRIAL
spellingShingle MEDICINA
FIBROSIS QUISTICA
CFTR
GENES
ENFERMEDADES
FUNCION MITOCONDRIAL
Valdivieso, Ángel Gabriel
Santa Coloma, Tomás Antonio
CFTR activity and mitochondrial function
topic_facet MEDICINA
FIBROSIS QUISTICA
CFTR
GENES
ENFERMEDADES
FUNCION MITOCONDRIAL
description 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.
format Artículo
author Valdivieso, Ángel Gabriel
Santa Coloma, Tomás Antonio
author_facet Valdivieso, Ángel Gabriel
Santa Coloma, Tomás Antonio
author_sort Valdivieso, Ángel Gabriel
title CFTR activity and mitochondrial function
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
publisher Elsevier B.V.
publishDate 2019
url https://repositorio.uca.edu.ar/handle/123456789/8676
http://dx.doi.org/10.1016/j.redox.2012.11.007
work_keys_str_mv AT valdiviesoangelgabriel cftractivityandmitochondrialfunction
AT santacolomatomasantonio cftractivityandmitochondrialfunction
bdutipo_str Repositorios
_version_ 1764820528416161794

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