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Using the genome to correct the ion transport defect in cystic fibrosis

The Journal of physiology, 2023-05, Vol.601 (9), p.1573-1582

Amaral, Margarida D.

2023

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Precision medicine for rare diseases: The times they are A-Changin

Current opinion in pharmacology, 2022-04, Vol.63, p.102201-102201, Article 102201

Amaral, Margarida D.

2022

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New pharmacological approaches for cystic fibrosis: promises, progress, pitfalls

Pharmacology & therapeutics (Oxford), 2015-01, Vol.145, p.19-34

2015

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Processing of CFTR: Traversing the cellular maze-How much CFTR needs to go through to avoid cystic fibrosis?

Pediatric pulmonology, 2005-06, Vol.39 (6), p.479-491

Amaral, Margarida D.

2005

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CFTR and chaperones: processing and degradation

Journal of molecular neuroscience, 2004-01, Vol.23 (1-2), p.41-48

Amaral, Margarida D

2004

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PTI-801 (posenacaftor) shares a common mechanism with VX-445 (elexacaftor) to rescue p.Phe508del-CFTR

European journal of pharmacology, 2024-03, Vol.967, p.176390-176390, Article 176390

2024

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Control of cystic fibrosis transmembrane conductance regulator membrane trafficking: not just from the endoplasmic reticulum to the Golgi

The FEBS journal, 2013-09, Vol.280 (18), p.4396-4406

2013

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Five Percent of Normal Cystic Fibrosis Transmembrane Conductance Regulator mRNA Ameliorates the Severity of Pulmonary Disease in Cystic Fibrosis

American journal of respiratory cell and molecular biology, 2002-11, Vol.27 (5), p.619-627

2002

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Correction of a Cystic Fibrosis Splicing Mutation by Antisense Oligonucleotides

Human mutation, 2016-02, Vol.37 (2), p.209-215

2016

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The SLC26A9 inhibitor S9‐A13 provides no evidence for a role of SLC26A9 in airway chloride secretion but suggests a contribution to regulation of ASL pH and gastric proton secretion

The FASEB journal, 2022-11, Vol.36 (11), p.e22534-n/a

2022

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Identification of novel F508del-CFTR traffic correctors among triazole derivatives

European journal of pharmacology, 2023-01, Vol.938, p.175396-175396, Article 175396

2023

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Characterization of the mechanism of action of RDR01752, a novel corrector of F508del-CFTR

Biochemical pharmacology, 2020-10, Vol.180, p.114133-114133, Article 114133

2020

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An open-source high-content analysis workflow for CFTR function measurements using the forskolin-induced swelling assay

Bioinformatics, 2021-04, Vol.36 (24), p.5686-5694

2021

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The effect of premature termination codon mutations on CFTR mRNA abundance in human nasal epithelium and intestinal organoids: a basis for read‐through therapies in cystic fibrosis

Human mutation, 2019-03, Vol.40 (3), p.326-334, Article humu.23692

2019

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Experimental Assessment of Splicing Variants Using Expression Minigenes and Comparison with In Silico Predictions

Human mutation, 2014-10, Vol.35 (10), p.1249-1259

2014

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Partial rescue of F508del‐cystic fibrosis transmembrane conductance regulator channel gating with modest improvement of protein processing, but not stability, by a dual‐acting small molecule

British journal of pharmacology, 2018-04, Vol.175 (7), p.1017-1038

2018

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Revertant mutants modify, but do not rescue, the gating defect of the cystic fibrosis mutant G551D‐CFTR

The Journal of physiology, 2014-05, Vol.592 (9), p.1931-1947

2014

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Post‐translational modifications of CFTR: insight into protein trafficking and cystic fibrosis disease

The FEBS journal, 2013-09, Vol.280 (18), p.4395-4395

2013

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Therapy through chaperones: Sense or antisense? Cystic fibrosis as a model disease

Journal of inherited metabolic disease, 2006-04, Vol.29 (2-3), p.477-487

Amaral, Margarida D.

2006

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Control of TMEM16A by INO‐4995 and other inositolphosphates

British journal of pharmacology, 2013-01, Vol.168 (1), p.253-265

2013

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Deletion of Phe508 in the first nucleotide-binding domain of the cystic fibrosis transmembrane conductance regulator increases its affinity for the heat shock cognate 70 chaperone

The FEBS journal, 2009-12, Vol.276 (23), p.7097-7109

2009

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Effect of Annexin A5 on CFTR: regulated traffic or scaffolding?

Molecular membrane biology, 2011-01, Vol.28 (1), p.14-29

2011

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CFTR Localization in Native Airway Cells and Cell Lines Expressing Wild-type or F508del-CFTR by a Panel of Different Antibodies

The journal of histochemistry and cytochemistry, 2004-02, Vol.52 (2), p.193-203

2004

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Applicability of Different Antibodies for the Immunohistochemical Localization of CFTR In Respiratory and Intestinal Tissues of Human and Murine Origin

The journal of histochemistry and cytochemistry, 2003-09, Vol.51 (9), p.1191-1199

2003

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Using the genome to correct the ion transport defect in cystic fibrosis

Precision medicine for rare diseases: The times they are A-Changin

Human Epididymis Protein 4: A Novel Serum Inflammatory Biomarker in Cystic Fibrosis

New pharmacological approaches for cystic fibrosis: promises, progress, pitfalls

Processing of CFTR: Traversing the cellular maze-How much CFTR needs to go through to avoid cystic fibrosis?

CFTR and chaperones: processing and degradation

PTI-801 (posenacaftor) shares a common mechanism with VX-445 (elexacaftor) to rescue p.Phe508del-CFTR

Control of cystic fibrosis transmembrane conductance regulator membrane trafficking: not just from the endoplasmic reticulum to the Golgi

Five Percent of Normal Cystic Fibrosis Transmembrane Conductance Regulator mRNA Ameliorates the Severity of Pulmonary Disease in Cystic Fibrosis

Correction of a Cystic Fibrosis Splicing Mutation by Antisense Oligonucleotides

The SLC26A9 inhibitor S9‐A13 provides no evidence for a role of SLC26A9 in airway chloride secretion but suggests a contribution to regulation of ASL pH and gastric proton secretion

Identification of novel F508del-CFTR traffic correctors among triazole derivatives

Characterization of the mechanism of action of RDR01752, a novel corrector of F508del-CFTR

An open-source high-content analysis workflow for CFTR function measurements using the forskolin-induced swelling assay

The effect of premature termination codon mutations on CFTR mRNA abundance in human nasal epithelium and intestinal organoids: a basis for read‐through therapies in cystic fibrosis

Experimental Assessment of Splicing Variants Using Expression Minigenes and Comparison with In Silico Predictions

Partial rescue of F508del‐cystic fibrosis transmembrane conductance regulator channel gating with modest improvement of protein processing, but not stability, by a dual‐acting small molecule

Revertant mutants modify, but do not rescue, the gating defect of the cystic fibrosis mutant G551D‐CFTR

Post‐translational modifications of CFTR: insight into protein trafficking and cystic fibrosis disease

Therapy through chaperones: Sense or antisense? Cystic fibrosis as a model disease

Control of TMEM16A by INO‐4995 and other inositolphosphates

Deletion of Phe508 in the first nucleotide-binding domain of the cystic fibrosis transmembrane conductance regulator increases its affinity for the heat shock cognate 70 chaperone

Effect of Annexin A5 on CFTR: regulated traffic or scaffolding?

CFTR Localization in Native Airway Cells and Cell Lines Expressing Wild-type or F508del-CFTR by a Panel of Different Antibodies

Applicability of Different Antibodies for the Immunohistochemical Localization of CFTR In Respiratory and Intestinal Tissues of Human and Murine Origin

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