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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Autores principales: | , |
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Formato: | Artículo |
Lenguaje: | Inglés |
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Elsevier B.V.
2019
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Materias: | |
Acceso en línea: | https://repositorio.uca.edu.ar/handle/123456789/8676 http://dx.doi.org/10.1016/j.redox.2012.11.007 |
Aporte de: |
id |
I33-R139123456789-8676 |
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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 |