The L467F-F508del Complex Allele Hampers Pharmacological Rescue of Mutant CFTR by Elexacaftor/Tezacaftor/Ivacaftor in Cystic Fibrosis Patients: The Value of the Ex Vivo Nasal Epithelial Model to Address Non-Responders to CFTR-Modulating Drugs.

Alleles Aminophenols Benzodioxoles / pharmacology Cystic Fibrosis / drug therapy Cystic Fibrosis Transmembrane Conductance Regulator / metabolism Drug Combinations Humans Indoles Mutation Pyrazoles Pyridines Pyrrolidines Quinolones
chloride secretion correctors modulators potentiators theratype

Journal

International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791

Informations de publication

Date de publication:
15 Mar 2022
Historique:
received: 20 02 2022
revised: 10 03 2022
accepted: 14 03 2022
entrez: 25 3 2022
pubmed: 26 3 2022
medline: 9 4 2022
Statut: epublish

Résumé

Loss-of-function mutations of the

Identifiants

DOI: 10.3390/ijms23063175 PMID: 35328596 PMC: PMC8952007
pubmed: 35328596
pii: ijms23063175
doi: 10.3390/ijms23063175
pmc: PMC8952007
pii:
doi:

Substances chimiques

Aminophenols 0
Benzodioxoles 0
CFTR protein, human 0
Drug Combinations 0
Indoles 0
Pyrazoles 0
Pyridines 0
Pyrrolidines 0
Quinolones 0
tezacaftor 0
Cystic Fibrosis Transmembrane Conductance Regulator 126880-72-6
ivacaftor 1Y740ILL1Z
elexacaftor RRN67GMB0V

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Subventions

Organisme : Cystic Fibrosis Foundation
ID : PEDEMO20G0
Organisme : Cystic Fibrosis Research Foundation
ID : FFC #9/2019
Organisme : Cystic Fibrosis Research Foundation
ID : FFC #10/2021
Organisme : Ministero della Salute
ID : GR-2018-12367126
Organisme : Ministero della Salute
ID : 5permille
Organisme : Ministero della Salute
ID : MSALRC21
Organisme : Ministero della Salute
ID : ALBURLORF, DLDG514/20 (Progetto Ricerca collaborativo Rete IRCCS IDE)
Organisme : Ministero della Salute
ID : Ricerca Corrente

Références

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Auteurs

Elvira Sondo (E)

UOC Genetica Medica, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy.

Federico Cresta (F)

UOSD Centro Fibrosi Cistica, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy.
ORCID: 0000-0002-2483-5374

Cristina Pastorino (C)

Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16132 Genova, Italy.
ORCID: 0000-0001-8565-4393

Valeria Tomati (V)

UOC Genetica Medica, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy.
ORCID: 0000-0003-3761-1916

Valeria Capurro (V)

UOC Genetica Medica, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy.
ORCID: 0000-0002-9740-1171

Emanuela Pesce (E)

UOC Genetica Medica, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy.
ORCID: 0000-0002-9070-4479

Mariateresa Lena (M)

UOC Genetica Medica, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy.

Michele Iacomino (M)

UOC Genetica Medica, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy.

Ave Maria Baffico (AM)

UOC Laboratorio di Genetica Umana, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy.

Domenico Coviello (D)

UOC Laboratorio di Genetica Umana, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy.
ORCID: 0000-0001-8440-865X

Tiziano Bandiera (T)

D3-PharmaChemistry, Fondazione Istituto Italiano di Tecnologia, 16163 Genova, Italy.
ORCID: 0000-0002-2496-2701

Federico Zara (F)

UOC Genetica Medica, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy.
Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16132 Genova, Italy.

Luis J V Galietta (LJV)

Telethon Institute of Genetics and Medicine (TIGEM), 80078 Pozzuoli, Italy.
Department of Translational Medical Sciences (DISMET), University of Naples Federico II, 80131 Naples, Italy.

Renata Bocciardi (R)

UOC Genetica Medica, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy.
Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16132 Genova, Italy.
ORCID: 0000-0001-8415-3802

Carlo Castellani (C)

UOSD Centro Fibrosi Cistica, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy.
ORCID: 0000-0003-1916-0963

Nicoletta Pedemonte (N)

UOC Genetica Medica, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy.
ORCID: 0000-0002-5161-1720

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Classifications MeSH

questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Composants de génome › Gènes › Allèles › The L467F-F508del Complex Allele Hampers...
questionsmedicales.fr › Composés chimiques organiques › Hydrocarbures › Hydrocarbures cycliques › Hydrocarbures aromatiques › Dérivés du benzène › Phénols › Aminophénols › The L467F-F508del Complex Allele Hampers...
questionsmedicales.fr › Composés hétérocycliques › Composés hétérocycliques à cycles fusionnés › Composés hétérobicycliques › Benzodioxoles › The L467F-F508del Complex Allele Hampers...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies néonatales › Mucoviscidose › The L467F-F508del Complex Allele Hampers...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › Protéines de transport membranaire › Pompes ioniques › Transporteurs d'anions › Transporteurs d'anions organiques › Transporteurs d'anions organiques ATP-dépendants › Protéines associées à la multirésistance aux médicaments › Protéine CFTR › The L467F-F508del Complex Allele Hampers...
questionsmedicales.fr › Préparations pharmaceutiques › Association médicamenteuse › The L467F-F508del Complex Allele Hampers...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › The L467F-F508del Complex Allele Hampers...
questionsmedicales.fr › Composés hétérocycliques › Composés hétérocycliques à cycles fusionnés › Composés hétérobicycliques › Indoles › The L467F-F508del Complex Allele Hampers...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › The L467F-F508del Complex Allele Hampers...
questionsmedicales.fr › Composés hétérocycliques › Composés hétéromonocycliques › Azoles › Pyrazoles › The L467F-F508del Complex Allele Hampers...
questionsmedicales.fr › Composés hétérocycliques › Composés hétéromonocycliques › Pyridines › The L467F-F508del Complex Allele Hampers...
questionsmedicales.fr › Composés hétérocycliques › Composés hétéromonocycliques › Pyrrolidines › The L467F-F508del Complex Allele Hampers...
questionsmedicales.fr › Composés hétérocycliques › Composés hétérocycliques à cycles fusionnés › Composés hétérobicycliques › Quinoléines › Quinolinone › The L467F-F508del Complex Allele Hampers...