Publications by authors named "Margarida D Amaral"

100Publications

Assessment of Distinct Electrophysiological Parameters in Rectal Biopsies for the Choice of the Best Diagnosis/Prognosis Biomarkers for Cystic Fibrosis.

Front Physiol 2020 23;11:604580. Epub 2020 Dec 23.

BioISI - Biosystems and Integrative Sciences Institute, Faculty of Sciences, University of Lisbon, Lisbon, Portugal.

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December 2020

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

Bioinformatics 2020 Dec 26. Epub 2020 Dec 26.

BioISI-Biosystems & Integrative Sciences Institute, Faculty of Sciences, University of Lisboa, 1749-016, Lisboa, Portugal.

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December 2020

How to determine the mechanism of action of CFTR modulator compounds: A gateway to theranostics.

Eur J Med Chem 2021 Jan 5;210:112989. Epub 2020 Nov 5.

BioISI - Biosystems & Integrative Sciences Institute, Lisboa, Faculty of Sciences, University of Lisboa, Portugal. Electronic address:

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January 2021

Mutant CFTR Drives TWIST1 mediated epithelial-mesenchymal transition.

Cell Death Dis 2020 10 26;11(10):920. Epub 2020 Oct 26.

University of Lisboa, Faculty of Sciences, BioISI - Biosystems & Integrative Sciences Institute, C8 bdg, 1749-016, Campo Grande, Lisboa, Portugal.

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October 2020

Impact of KLF4 on Cell Proliferation and Epithelial Differentiation in the Context of Cystic Fibrosis.

Int J Mol Sci 2020 Sep 14;21(18). Epub 2020 Sep 14.

BioISI-Biosystems & Integrative Sciences Institute, Faculty of Sciences, University of Lisboa, 1749-016 Lisbon, Portugal.

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September 2020

Organoids as a personalized medicine tool for ultra-rare mutations in cystic fibrosis: The case of S955P and 1717-2A>G.

Biochim Biophys Acta Mol Basis Dis 2020 11 28;1866(11):165905. Epub 2020 Jul 28.

University of Lisboa, Faculty of Sciences, BioISI - Biosystems & Integrative Sciences Institute, Campo Grande, C8 bdg, 1749-016 Lisboa, Portugal. Electronic address:

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November 2020

KLF4 Acts as a wt-CFTR Suppressor through an AKT-Mediated Pathway.

Cells 2020 07 2;9(7). Epub 2020 Jul 2.

BioISI-Biosystems & Integrative Sciences Institute, Faculty of Sciences, University of Lisbon, 1749-016 Lisbon, Portugal.

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July 2020

Full Rescue of F508del-CFTR Processing and Function by CFTR Modulators Can Be Achieved by Removal of Two Regulatory Regions.

Int J Mol Sci 2020 Jun 25;21(12). Epub 2020 Jun 25.

BioISI-Biosystems & Integrative Sciences Institute, Faculty of Sciences, University of Lisboa, 1749-016 Lisboa, Portugal.

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June 2020

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

Biochem Pharmacol 2020 10 3;180:114133. Epub 2020 Jul 3.

University of Lisboa, Faculty of Sciences, BioISI Biosystems & Integrative Sciences Institute, Lisboa, Portugal. Electronic address:

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October 2020

Letter to the editor of JCF.

J Cyst Fibros 2020 05;19(3):503

University of Lisboa, Faculty of Sciences, BioISI Biosystems & Integrative Sciences Institute, Lisboa Portugal. Electronic address:

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May 2020

Cytoskeleton regulators CAPZA2 and INF2 associate with CFTR to control its plasma membrane levels under EPAC1 activation.

Biochem J 2020 07;477(13):2561-2580

Faculty of Sciences, BioISI-Biosystems and Integrative Sciences Institute, University of Lisboa, Campo Grande, 1749-016 Lisboa, Portugal.

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July 2020

Laboratory biomarkers for lung disease severity and progression in cystic fibrosis.

Clin Chim Acta 2020 Sep 16;508:277-286. Epub 2020 May 16.

Department of Laboratory Medicine, Faculty of Medicine, University of Debrecen, Debrecen, Hungary. Electronic address:

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September 2020

What Role Does CFTR Play in Development, Differentiation, Regeneration and Cancer?

Int J Mol Sci 2020 Apr 29;21(9). Epub 2020 Apr 29.

BioISI-Biosystems and Integrative Sciences Institute, Faculty of Sciences, University of Lisboa, 1749-016 Lisboa, Portugal.

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April 2020

A central role of the endoplasmic reticulum in the cell emerges from its functional contact sites with multiple organelles.

Cell Mol Life Sci 2020 Dec 20;77(23):4729-4745. Epub 2020 Apr 20.

Faculty of Sciences, BioISI, Biosystems and Integrative Sciences Institute, University of Lisboa, Campo Grande, C8 bdg, 1749-016, Lisbon, Portugal.

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December 2020

TMEM16A chloride channel does not drive mucus production.

Life Sci Alliance 2019 12 15;2(6). Epub 2019 Nov 15.

University of Lisboa, Faculty of Sciences, BioISI-Biosystems & Integrative Sciences Institute, Lisboa, Portugal

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December 2019

CFTR processing, trafficking and interactions.

J Cyst Fibros 2020 03 31;19 Suppl 1:S33-S36. Epub 2019 Oct 31.

UOC Genetica Medica, IRCCS Istituto Giannina Gaslini, Via Gerolamo Gaslini 5, Genova 16147, Italy. Electronic address:

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March 2020

Activating alternative chloride channels to treat CF: Friends or Foes?: Report on the Meeting of the Basic Science Working Group in Dubrovnik, Croatia.

J Cyst Fibros 2020 01 31;19(1):11-15. Epub 2019 Oct 31.

Department of Pediatric Pulmonology, Wilhelmina Children's Hospital, and Regenerative Medicine Center Utrecht, University Medical Center Utrecht, the Netherlands. Electronic address:

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January 2020

Inhibition of calpain 1 restores plasma membrane stability to pharmacologically rescued Phe508del-CFTR variant.

J Biol Chem 2019 09 19;294(36):13396-13410. Epub 2019 Jul 19.

Department of Human Genetics, National Health Institute Doutor Ricardo Jorge, 1649-016 Lisboa, Portugal

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September 2019

Folding Status Is Determinant over Traffic-Competence in Defining CFTR Interactors in the Endoplasmic Reticulum.

Cells 2019 04 14;8(4). Epub 2019 Apr 14.

BioISI-Biosystems & Integrative Sciences Institute, Faculty of Sciences, University of Lisboa, Campo Grande C8, 1749-016 Lisboa, Portugal.

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April 2019

Increases in cytosolic Ca induce dynamin- and calcineurin-dependent internalisation of CFTR.

Cell Mol Life Sci 2019 Mar 13;76(5):977-994. Epub 2018 Dec 13.

Institute for Cell and Molecular Biosciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.

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March 2019

Human epididymis protein 4 (HE4) levels inversely correlate with lung function improvement (delta FEV) in cystic fibrosis patients receiving ivacaftor treatment.

J Cyst Fibros 2019 03 27;18(2):271-277. Epub 2018 Sep 27.

Department of Laboratory Medicine, Faculty of Medicine, University of Debrecen, Debrecen, Hungary; Division of Clinical Genetics, Department of Laboratory Medicine, Faculty of Medicine, University of Debrecen, Debrecen, Hungary.

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March 2019

Prolonged co-treatment with HGF sustains epithelial integrity and improves pharmacological rescue of Phe508del-CFTR.

Sci Rep 2018 08 29;8(1):13026. Epub 2018 Aug 29.

Department of Human Genetics, National Health Institute 'Dr. Ricardo Jorge', Av. Padre Cruz, 1649-016, Lisboa, Portugal.

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August 2018

Proteomic interaction profiling reveals KIFC1 as a factor involved in early targeting of F508del-CFTR to degradation.

Cell Mol Life Sci 2018 Dec 31;75(24):4495-4509. Epub 2018 Jul 31.

Department of Chemistry and Biochemistry & BioISI-Biosystems and Integrative Sciences Institute, Faculty of Sciences, University of Lisboa, Campo Grande, 1749-016, Lisbon, Portugal.

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December 2018

R560S: A class II CFTR mutation that is not rescued by current modulators.

J Cyst Fibros 2019 03 18;18(2):182-189. Epub 2018 Jul 18.

University of Lisboa, BioISI - Biosystems & Integrative Sciences Institute, Campo Grande, C8 bdg, 1749-016 Lisboa, Portugal. Electronic address:

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March 2019

Cystic fibrosis: Beyond the airways. Report on the meeting of the basic science working group in Loutraki, Greece.

J Cyst Fibros 2018 07 2;17(4):441-443. Epub 2018 Jun 2.

Department of Pediatric Pulmonology, Wilhelmina Children's Hospital, Regenerative Medicine Center Utrecht, University Medical Center Utrecht, The Netherlands. Electronic address:

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July 2018

A Mathematical Model of the Phosphoinositide Pathway.

Sci Rep 2018 03 2;8(1):3904. Epub 2018 Mar 2.

University of Lisbon, Faculty of Sciences, BIOISI: Biosystems and Integrative Sciences Institute. Campo Grande, 1749-016, Lisbon, Portugal.

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March 2018

A novel microscopy-based assay identifies extended synaptotagmin-1 (ESYT1) as a positive regulator of anoctamin 1 traffic.

Biochim Biophys Acta Mol Cell Res 2018 Feb 15;1865(2):421-431. Epub 2017 Nov 15.

University of Lisboa, Faculty of Sciences, BioISI - Biosystems & Integrative Sciences Institute, Campo Grande, C8, 1749-016 Lisboa, Portugal; Cell Biology and Biophysics Unit and Advanced Light Microscopy Facility, European Molecular Biology Laboratory (EMBL), Meyerhofstraße 1, 69117 Heidelberg, Germany. Electronic address:

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February 2018

Investigating Alternative Transport of Integral Plasma Membrane Proteins from the ER to the Golgi: Lessons from the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR).

Methods Mol Biol 2016 ;1459:105-26

Faculty of Sciences, BioISI - Biosystems & Integrative Sciences Institute, University of Lisboa, Campo Grande, 1749-016, Lisbon, Portugal.

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January 2018

Classification of CFTR mutation classes - Authors' reply.

Lancet Respir Med 2016 08 1;4(8):e39. Epub 2016 Jul 1.

Faculty of Sciences, Biosystems and Integrative Sciences Institute (BioISI), University of Lisbon, Lisbon, Portugal.

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August 2016

EPAC1 activation by cAMP stabilizes CFTR at the membrane by promoting its interaction with NHERF1.

J Cell Sci 2016 07 20;129(13):2599-612. Epub 2016 May 20.

University of Lisboa, Faculty of Sciences, BioISI - Biosystems & Integrative Sciences Institute, Campo Grande, Lisboa 1749-016, Portugal

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July 2016

The third dimension: new developments in cell culture models for colorectal research.

Cell Mol Life Sci 2016 11 4;73(21):3971-89. Epub 2016 May 4.

Departamento de Genética Humana, Instituto Nacional de Saúde Doutor Ricardo Jorge, Avenida Padre Cruz, 1649-016, Lisbon, Portugal.

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November 2016

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

Chest 2016 09 19;150(3):661-72. Epub 2016 Apr 19.

Department of Laboratory Medicine, Faculty of Medicine, University of Debrecen, Debrecen, Hungary; Division of Clinical Genetics, Faculty of Medicine, University of Debrecen, Debrecen, Hungary; Institute of Pediatrics, Faculty of Medicine, University of Debrecen, Debrecen, Hungary.

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September 2016

Progress in therapies for cystic fibrosis.

Lancet Respir Med 2016 08 1;4(8):662-674. Epub 2016 Apr 1.

Faculty of Sciences, Biosystems and Integrative Sciences Institute (BioISI), University of Lisbon, Lisbon, Portugal.

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August 2016

Correction of a Cystic Fibrosis Splicing Mutation by Antisense Oligonucleotides.

Hum Mutat 2016 Feb 2;37(2):209-15. Epub 2015 Dec 2.

University of Lisboa, Faculty of Sciences, BioISI - Biosystems & Integrative Sciences Institute, Lisboa, Portugal.

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February 2016

Hallmarks of therapeutic management of the cystic fibrosis functional landscape.

J Cyst Fibros 2015 Nov 29;14(6):687-99. Epub 2015 Oct 29.

Department of Chemical Physiology, Department of Cell and Molecular Biology, The Skaggs Institute of Chemical Biology, The Scripps Research Institute, La Jolla, CA, USA. Electronic address:

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November 2015

Transcriptome meta-analysis reveals common differential and global gene expression profiles in cystic fibrosis and other respiratory disorders and identifies CFTR regulators.

Genomics 2015 Nov 29;106(5):268-77. Epub 2015 Jul 29.

University of Lisboa, Faculty of Sciences, BioISI- Biosystems & Integrative Sciences Institute, Campo Grande, Lisboa, Portugal.

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November 2015

Increased efficacy of VX-809 in different cellular systems results from an early stabilization effect of F508del-CFTR.

Pharmacol Res Perspect 2015 Aug 11;3(4):e00152. Epub 2015 Jun 11.

University of Lisboa, Faculty of Sciences, BioISI - Biosystems & Integrative Sciences Institute Campo Grande-C8, 1749-016, Lisboa, Portugal.

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August 2015

Measurements of Functional Responses in Human Primary Lung Cells as a Basis for Personalized Therapy for Cystic Fibrosis.

EBioMedicine 2015 17;2(2):147-53. Epub 2014 Dec 17.

University of Lisboa, Faculty of Sciences, BioFIG-Center for Biodiversity, Functional and Integrative Genomics, Campo Grande, C8 bdg, 1749-016 Lisboa, Portugal.

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June 2016

A molecular switch in the scaffold NHERF1 enables misfolded CFTR to evade the peripheral quality control checkpoint.

Sci Signal 2015 May 19;8(377):ra48. Epub 2015 May 19.

Department of Human Genetics, National Health Institute Doutor Ricardo Jorge, Av. Padre Cruz, 1649-016 Lisboa, Portugal. Biosystems & Integrative Sciences Institute (BioISI), Faculty of Sciences, University of Lisboa, Campo Grande-C8, 1749-016 Lisboa, Portugal.

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May 2015

Protein traffic disorders: an effective high-throughput fluorescence microscopy pipeline for drug discovery.

Sci Rep 2015 Mar 12;5:9038. Epub 2015 Mar 12.

University of Lisboa, Faculty of Sciences, BioISI - Biosystems &Integrative Sciences Institute, Campo Grande, C8, 1749-016 Lisboa, Portugal.

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March 2015

Comparative ex vivo, in vitro and in silico analyses of a CFTR splicing mutation: Importance of functional studies to establish disease liability of mutations.

J Cyst Fibros 2016 Jan 27;15(1):21-33. Epub 2015 Feb 27.

University of Lisboa, Faculty of Sciences, BioISI - Biosystems and Integrative Sciences Institute, Lisboa, Portugal. Electronic address:

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January 2016

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

Pharmacol Ther 2015 Jan 14;145:19-34. Epub 2014 Jun 14.

University of Lisboa, Faculty of Sciences, BioFIG - Centre for Biodiversity, Functional and Integrative Genomics, Campo Grande, C8 bdg, 1749-016 Lisboa, Portugal.

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January 2015

LMTK2-mediated phosphorylation regulates CFTR endocytosis in human airway epithelial cells.

J Biol Chem 2014 May 11;289(21):15080-93. Epub 2014 Apr 11.

the Department of Nephrology, Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania 15201, the Department of Cell Biology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania 15261

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May 2014

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

J Physiol 2014 May 3;592(9):1931-47. Epub 2014 Mar 3.

University of Bristol, School of Physiology and Pharmacology, Medical Sciences Building, University Walk, Bristol BS8 1TD, UK.

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May 2014

Neuronal reprograming of protein homeostasis by calcium-dependent regulation of the heat shock response.

PLoS Genet 2013 Aug 29;9(8):e1003711. Epub 2013 Aug 29.

Department of Molecular Biosciences, Rice Institute for Biomedical Research, Northwestern University, Evanston, Illinois, United States of America.

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August 2013

Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.

Nat Genet 2013 Oct 25;45(10):1160-7. Epub 2013 Aug 25.

1] Department of Medicine, Johns Hopkins University, Baltimore, Maryland, USA. [2] Perdana University Graduate School of Medicine, Serdang, Malaysia. [3] McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland, USA.

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October 2013

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

FEBS J 2013 Sep 5;280(18):4396-406. Epub 2013 Jul 5.

Faculty of Sciences, BioFIG - Centre for Biodiversity, Functional and Integrative Genomics, University of Lisboa, Portugal.

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September 2013

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

FEBS J 2013 Sep 5;280(18):4395. Epub 2013 Jul 5.

Faculty of Sciences of the University of Lisboa, Portugal.

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September 2013

Changes in transcriptome of native nasal epithelium expressing F508del-CFTR and intersecting data from comparable studies.

Respir Res 2013 Mar 28;14:38. Epub 2013 Mar 28.

BioFIG-Centre for Biodiversity, Functional and Integrative Genomics, FCUL-Faculty of Sciences, University of Lisboa, Lisboa 1749-016, Portugal.

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March 2013

Rescuing mutant CFTR: a multi-task approach to a better outcome in treating cystic fibrosis.

Curr Pharm Des 2013 ;19(19):3497-508

BioFiG-Center for Biodiversity, Functional and Integrative Genomics, Department of Chemistry & Biochemistry, Faculty of Sciences, University of Lisboa, Campo Grande, Lisbon, Portugal.

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November 2013

BAG-1 stabilizes mutant F508del-CFTR in a ubiquitin-like-domain-dependent manner.

Cell Physiol Biochem 2012 5;30(5):1120-33. Epub 2012 Oct 5.

Department of Human Genetics, National Institute of Health, Lisboa, Portugal.

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September 2014

HGF stimulation of Rac1 signaling enhances pharmacological correction of the most prevalent cystic fibrosis mutant F508del-CFTR.

ACS Chem Biol 2013 Feb 20;8(2):432-42. Epub 2012 Nov 20.

Department of Genetics, National Health Institute 'Dr. Ricardo Jorge', Av. Padre Cruz, 1649-016 Lisboa, Portugal.

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February 2013

CFTR mutations altering CFTR fragmentation.

Biochem J 2013 Jan;449(1):295-305

Division of Medical Sciences, University of Dundee, Ninewells Hospital, Dundee DD1 9SY, U.K.

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January 2013

Impact of the cystic fibrosis mutation F508del-CFTR on renal cyst formation and growth.

Am J Physiol Renal Physiol 2012 Oct 8;303(8):F1176-86. Epub 2012 Aug 8.

School of Physiology and Pharmacology, University of Bristol, University Walk, Bristol, UK.

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October 2012

A genetic screening strategy identifies novel regulators of the proteostasis network.

PLoS Genet 2011 Dec 29;7(12):e1002438. Epub 2011 Dec 29.

Department of Molecular Biosciences, Rice Institute for Biomedical Research, Northwestern University, Evanston, Illinois, United States of America.

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December 2011

The K+ channel opener 1-EBIO potentiates residual function of mutant CFTR in rectal biopsies from cystic fibrosis patients.

PLoS One 2011 31;6(8):e24445. Epub 2011 Aug 31.

Division of Pediatric Pulmonology and Allergy and Cystic Fibrosis Center, Department of Pediatrics III, University of Heidelberg, Heidelberg, Germany.

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January 2012

Antagonistic regulation of cystic fibrosis transmembrane conductance regulator cell surface expression by protein kinases WNK4 and spleen tyrosine kinase.

Mol Cell Biol 2011 Oct 1;31(19):4076-86. Epub 2011 Aug 1.

Departamento de Genética, Instituto Nacional de Saúde Dr. Ricardo Jorge, Avenida Padre Cruz, 1649-016 Lisbon, Portugal.

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October 2011

Introduction to section III: biochemical methods to study CFTR protein.

Methods Mol Biol 2011 ;741:213-8

Faculty of Sciences, BioFiG-Centre for Biodiversity and Functional and Integrative Genomics, University of Lisboa, Lisboa, Portugal.

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September 2011

Quantification of CFTR transcripts.

Methods Mol Biol 2011 ;741:115-35

Faculty of Sciences, BioFiG-Centre for Biodiversity and Functional and Integrative Genomics, University of Lisboa, Lisboa, Portugal.

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September 2011

Introduction to section III: resources for CFTR research.

Methods Mol Biol 2011 ;742:281-3

Faculty of Sciences, BioFIG - Center for Biodiversity, Functional and Integrative Genomics, University of Lisboa, 1749-016 Lisboa, Portugal.

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September 2011

Functional genomics assays to study CFTR traffic and ENaC function.

Methods Mol Biol 2011 ;742:249-64

Faculty of Sciences, BioFiG-Centre for Biodiversity and Functional and Integrative Genomics, University of Lisboa, Lisboa, Portugal.

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September 2011

Microarray mRNA expression profiling to study cystic fibrosis.

Methods Mol Biol 2011 ;742:193-212

Interdisciplinary Program in Genetics, Department of Pediatrics, University of Iowa, Iowa City, IA, USA.

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September 2011

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

Mol Membr Biol 2011 Jan 11;28(1):14-29. Epub 2010 Nov 11.

Department of Physiology, University of Regensburg, Germany.

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January 2011

Targeting CFTR: how to treat cystic fibrosis by CFTR-repairing therapies.

Curr Drug Targets 2011 May;12(5):683-93

University of Lisboa, Faculty of Sciences, BioFIG - Centre for Biodiversity, Functional and Integrative Genomics, Portugal.

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May 2011

Folding and rescue of a cystic fibrosis transmembrane conductance regulator trafficking mutant identified using human-murine chimeric proteins.

J Biol Chem 2010 Aug 15;285(35):27033-44. Epub 2010 Jun 15.

University of Lisboa, Faculty of Sciences, BioFIG-Centre for Biodiversity, Functional and Integrative Genomics, 1749-016 Lisboa, Portugal.

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August 2010

Deletion of CFTR translation start site reveals functional isoforms of the protein in CF patients.

Cell Physiol Biochem 2009 4;24(5-6):335-46. Epub 2009 Nov 4.

University of Lisboa, Centre for Biodiversity, Functional and Integrative Genomics, Lisboa, Portugal.

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February 2010

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.

FEBS J 2009 Dec 29;276(23):7097-109. Epub 2009 Oct 29.

Universidade de Lisboa, Faculdade de Ciências de Lisboa, BioFIG, Centre for Biodiversity, Functional and integrative Genomics, Portugal.

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December 2009

Regulation of the epithelial Na+ channel by the protein kinase CK2.

J Biol Chem 2008 May 28;283(19):13225-32. Epub 2008 Feb 28.

Institut für Physiologie, Universität Regensburg, Universitätsstrasse 31, D-93053 Regensburg, Germany.

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May 2008

Neuronal signaling modulates protein homeostasis in Caenorhabditis elegans post-synaptic muscle cells.

Genes Dev 2007 Nov;21(22):3006-16

Department of Biochemistry, Molecular Biology and Cell Biology, Rice Institute for Biomedical Research, Northwestern University, Evanston, Illinois 60208, USA.

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November 2007

Chimeric constructs endow the human CFTR Cl- channel with the gating behavior of murine CFTR.

Proc Natl Acad Sci U S A 2007 Oct 3;104(41):16365-70. Epub 2007 Oct 3.

Department of Physiology and Pharmacology, University of Bristol, School of Medical Sciences, University Walk, Bristol BS8 1TD, United Kingdom.

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October 2007

Molecular targeting of CFTR as a therapeutic approach to cystic fibrosis.

Trends Pharmacol Sci 2007 Jul 18;28(7):334-41. Epub 2007 Jun 18.

Department of Chemistry and Biochemistry, Faculty of Sciences, University of Lisboa, 1749-016 Lisboa, Portugal.

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July 2007

Revertant mutants G550E and 4RK rescue cystic fibrosis mutants in the first nucleotide-binding domain of CFTR by different mechanisms.

Proc Natl Acad Sci U S A 2006 Nov 10;103(47):17891-6. Epub 2006 Nov 10.

Department of Chemistry and Biochemistry, Faculty of Sciences, University of Lisbon, Campo Grande, 1749-016 Lisbon, Portugal.

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November 2006

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

J Inherit Metab Dis 2006 Apr-Jun;29(2-3):477-87

Department of Chemistry and Biochemistry, Faculty of Sciences, University of Lisboa, Lisboa, Portugal.

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January 2007

Human-specific cystic fibrosis transmembrane conductance regulator antibodies detect in vivo gene transfer to ovine airways.

Am J Respir Cell Mol Biol 2006 Jul 23;35(1):72-83. Epub 2006 Feb 23.

Medical Sciences (Medical Genetics), University of Edinburgh, Molecular Medicine Centre, Western General Hospital, Edinburgh EH4 2XU, United Kingdom.

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July 2006

Most F508del-CFTR is targeted to degradation at an early folding checkpoint and independently of calnexin.

Mol Cell Biol 2005 Jun;25(12):5242-52

Department of Chemistry and Biochemistry, Faculty of Sciences, University of Lisboa, 1749-016 Lisboa, Portugal.

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June 2005