Margarida D Amaral

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.

Authors:

Luis Sousa Ines Pankonien Luka A Clarke Iris Silva Karl Kunzelmann Margarida D Amaral

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.

Authors:

Inna Uliyakina Hugo M Botelho Ana C da Paula Sara Afonso Miguel J Lobo Verónica Felício Carlos M Farinha Margarida D Amaral

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.

Authors:

Miquéias Lopes-Pacheco Iris A L Silva Mark J Turner Graeme W Carlile Elvira Sondo David Y Thomas Nicoletta Pedemonte John W Hanrahan Margarida D Amaral

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.

Authors:

Margarida D Amaral

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.

Authors:

João D Santos Francisco R Pinto João F Ferreira Margarida D Amaral Manuela Zaccolo Carlos M Farinha

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.

Authors:

Zsolt Bene Zsolt Fejes Milan Macek Margarida D Amaral István Balogh Béla Nagy

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?

Authors:

Margarida D Amaral Margarida C Quaresma Ines Pankonien

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.

Authors:

Celso Almeida Margarida D Amaral

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.

Authors:

Filipa B Simões Margarida C Quaresma Luka A Clarke Iris Al Silva Ines Pankonien Violeta Railean Arthur Kmit Margarida D Amaral

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.

Authors:

Margarida D Amaral Darren M Hutt Valeria Tomati Hugo M Botelho Nicoletta Pedemonte

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.

Authors:

Margarida D Amaral Jeffrey M Beekman

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

Theranostics by testing CFTR modulators in patient-derived materials: The current status and a proposal for subjects with rare CFTR mutations.

Authors:

Margarida D Amaral Kris de Boeck

J Cyst Fibros 2019 09 17;18(5):685-692. Epub 2019 Jul 17.

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September 2019

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

Authors:

Ana M Matos Francisco R Pinto Patrícia Barros Margarida D Amaral Rainer Pepperkok Paulo Matos

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

Speeding up access to new drugs for CF: Considerations for clinical trial design and delivery.

Authors:

Jane C Davies Pavel Drevinek J Stuart Elborn Eitan Kerem Tim Lee Margarida D Amaral Kris de Boeck Jane C Davies Pavel Drevinek J Stuart Elborn Eitan Kerem Tim Lee

J Cyst Fibros 2019 09 11;18(5):677-684. Epub 2019 Jul 11.

Leeds Teaching Hospitals NHS Trust, Leeds, UK.

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September 2019

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

Authors:

João D Santos Sara Canato Ana S Carvalho Hugo M Botelho Kerman Aloria Margarida D Amaral Rune Matthiesen Andre O Falcao Carlos M Farinha

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.

Authors:

Waseema Patel Patrick J Moore M Flori Sassano Miquéias Lopes-Pacheco Andrei A Aleksandrov Margarida D Amaral Robert Tarran Michael A Gray

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

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.

Authors:

Luka A Clarke Nikhil T Awatade Veronica M Felício Iris A Silva Maite Calucho Luisa Pereira Pilar Azevedo José Cavaco Celeste Barreto Carmen Bertuzzo Silvia Gartner Jeffrey Beekman Margarida D Amaral

Hum Mutat 2019 03 10;40(3):326-334. Epub 2018 Dec 10.

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

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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.

Authors:

Béla Nagy Zsolt Bene Zsolt Fejes Sonya L Heltshe David Reid Nicola J Ronan Yvonne McCarthy Daniel Smith Attila Nagy Elizabeth Joseloff György Balla János Kappelmayer Milan Macek Scott C Bell Barry J Plant Margarida D Amaral István Balogh

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.

Authors:

Ana M Matos Andreia Gomes-Duarte Márcia Faria Patrícia Barros Peter Jordan Margarida D Amaral Paulo Matos

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.

Authors:

Sara Canato João D Santos Ana S Carvalho Kerman Aloria Margarida D Amaral Rune Matthiesen André O Falcao Carlos M Farinha

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.

Authors:

Nikhil T Awatade Sofia Ramalho Iris A L Silva Verónica Felício Hugo M Botelho Eyleen de Poel Annelotte Vonk Jeffrey M Beekman Carlos M Farinha Margarida D Amaral

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

CFTR modulator theratyping: Current status, gaps and future directions.

J Cyst Fibros 2019 01 20;18(1):22-34. Epub 2018 Jun 20.

Cystic Fibrosis Foundation, United States.

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January 2019

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

Authors:

Margarida D Amaral Sylvia F Boj James Shaw Jens Leipziger Jeffrey M Beekman

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.

Authors:

Daniel V Olivença Inna Uliyakina Luis L Fonseca Margarida D Amaral Eberhard O Voit Francisco R Pinto

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

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.

Authors:

Jia Liu Hermann Bihler Carlos M Farinha Nikhil T Awatade Ana M Romão Dayna Mercadante Yi Cheng Isaac Musisi Walailak Jantarajit Yiting Wang Zhiwei Cai Margarida D Amaral Martin Mense David N Sheppard

Br J Pharmacol 2018 04 22;175(7):1017-1038. Epub 2018 Feb 22.

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

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April 2018

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

Authors:

Joana R Lérias Madalena C Pinto Hugo M Botelho Nikhil T Awatade Margarida C Quaresma Iris A L Silva Podchanart Wanitchakool Rainer Schreiber Rainer Pepperkok Karl Kunzelmann Margarida D Amaral

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).

Authors:

Margarida D Amaral Carlos M Farinha Paulo Matos Hugo M Botelho

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.

Authors:

Kris De Boeck Margarida D Amaral

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.

Authors:

Miguel J Lobo Margarida D Amaral Manuela Zaccolo Carlos M Farinha

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.

Authors:

Joana F S Pereira Nikhil T Awatade Cláudia A Loureiro Paulo Matos Margarida D Amaral Peter Jordan

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.

Authors:

Kris De Boeck Margarida D Amaral

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.

Authors:

Susana Igreja Luka A Clarke Hugo M Botelho Luís Marques Margarida D Amaral

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.

Authors:

Margarida D Amaral William E Balch

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.

Authors:

Luka A Clarke Hugo M Botelho Lisete Sousa Andre O Falcao Margarida D Amaral

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.

Authors:

Carlos M Farinha Marisa Sousa Sara Canato André Schmidt Inna Uliyakina Margarida D Amaral

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.

Authors:

Nikhil T Awatade Inna Uliyakina Carlos M Farinha Luka A Clarke Karina Mendes Amparo Solé Juan Pastor Maria Margarida Ramos Margarida D Amaral

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.

Authors:

Cláudia A Loureiro Ana Margarida Matos Ângela Dias-Alves Joana F Pereira Inna Uliyakina Patrícia Barros Margarida D Amaral Paulo Matos

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.

Authors:

Hugo M Botelho Inna Uliyakina Nikhil T Awatade Maria C Proença Christian Tischer Lalida Sirianant Karl Kunzelmann Rainer Pepperkok Margarida D Amaral

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.

Authors:

Anabela S Ramalho Luka A Clarke Marisa Sousa Verónica Felicio Celeste Barreto Carlos Lopes Margarida D Amaral

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

Experimental assessment of splicing variants using expression minigenes and comparison with in silico predictions.

Authors:

Neeraj Sharma Patrick R Sosnay Anabela S Ramalho Christopher Douville Arianna Franca Laura B Gottschalk Jeenah Park Melissa Lee Briana Vecchio-Pagan Karen S Raraigh Margarida D Amaral Rachel Karchin Garry R Cutting

Hum Mutat 2014 Oct 10;35(10):1249-59. Epub 2014 Sep 10.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland.

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October 2014

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

Authors:

Scott C Bell Kris De Boeck Margarida D Amaral

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

CFTR functional measurements in human models for diagnosis, prognosis and personalized therapy: Report on the pre-conference meeting to the 11th ECFS Basic Science Conference, Malta, 26-29 March 2014.

Authors:

Jeffrey M Beekman Isabelle Sermet-Gaudelus Kris de Boeck Tanja Gonska Nico Derichs Marcus A Mall Anil Mehta Ulrich Martin Mitch Drumm Margarida D Amaral

J Cyst Fibros 2014 Jul 2;13(4):363-72. Epub 2014 Jun 2.

University of Lisboa, Faculty of Sciences, Centre for Biodiversity, Functional and Integrative Genomics, Lisboa, Portugal. Electronic address:

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July 2014

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

Authors:

Simão Luz Kristine M Cihil David L Brautigan Margarida D Amaral Carlos M Farinha Agnieszka Swiatecka-Urban

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.

Authors:

Zhe Xu Luísa S Pissarra Carlos M Farinha Jia Liu Zhiwei Cai Patrick H Thibodeau Margarida D Amaral David N Sheppard

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

Assessing the residual CFTR gene expression in human nasal epithelium cells bearing CFTR splicing mutations causing cystic fibrosis.

Authors:

Laia Masvidal Susana Igreja Maria D Ramos Antoni Alvarez Javier de Gracia Anabela Ramalho Margarida D Amaral Sara Larriba Teresa Casals

Eur J Hum Genet 2014 Jun 16;22(6):784-91. Epub 2013 Oct 16.

Human Molecular Genetics Group. Bellvitge Biomedical Research Institute (IDIBELL), Barcelona, Spain.

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June 2014

High-content siRNA screen reveals global ENaC regulators and potential cystic fibrosis therapy targets.

Authors:

Joana Almaça Diana Faria Marisa Sousa Inna Uliyakina Christian Conrad Lalida Sirianant Luka A Clarke José Paulo Martins Miguel Santos Jean-Karim Heriché Wolfgang Huber Rainer Schreiber Rainer Pepperkok Karl Kunzelmann Margarida D Amaral

Cell 2013 Sep;154(6):1390-400

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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September 2013

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

Authors:

M Catarina Silva Margarida D Amaral Richard I Morimoto

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

Revertants, low temperature, and correctors reveal the mechanism of F508del-CFTR rescue by VX-809 and suggest multiple agents for full correction.

Authors:

Carlos M Farinha John King-Underwood Marisa Sousa Ana Raquel Correia Bárbara J Henriques Mónica Roxo-Rosa Ana Carina Da Paula Jonathan Williams Simon Hirst Cláudio M Gomes Margarida D Amaral

Chem Biol 2013 Jul;20(7):943-55

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

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July 2013

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

Authors:

Carlos M Farinha Paulo Matos Margarida D Amaral

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

Rectal forceps biopsy procedure in cystic fibrosis: technical aspects and patients perspective for clinical trials feasibility.

Authors:

Maria F Servidoni Marisa Sousa Adriana M Vinagre Silvia R Cardoso Maria A Ribeiro Luciana R Meirelles Rita B de Carvalho Karl Kunzelmann Antônio F Ribeiro José D Ribeiro Margarida D Amaral

BMC Gastroenterol 2013 May 20;13:91. Epub 2013 May 20.

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May 2013

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

Authors:

Margarida D Amaral Carlos M Farinha

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.

Authors:

Luka A Clarke Lisete Sousa Celeste Barreto Margarida D Amaral

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.

Authors:

Margarida D Amaral Carlos M Farinha

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.

Authors:

Filipa Mendes Carlos M Farinha Verónica Felício Paulo C Alves Isabel Vieira Margarida D Amaral

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.

Authors:

Sónia Moniz Marisa Sousa Bruno José Moraes Ana Isabel Mendes Marta Palma Celeste Barreto José I Fragata Margarida D Amaral Paulo Matos

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

Measurements of CFTR-mediated Cl- secretion in human rectal biopsies constitute a robust biomarker for Cystic Fibrosis diagnosis and prognosis.

Authors:

Marisa Sousa Maria F Servidoni Adriana M Vinagre Anabela S Ramalho Luciana C Bonadia Verónica Felício Maria A Ribeiro Inna Uliyakina Fernando A Marson Arthur Kmit Silvia R Cardoso José D Ribeiro Carmen S Bertuzzo Lisete Sousa Karl Kunzelmann Antônio F Ribeiro Margarida D Amaral

PLoS One 2012 17;7(10):e47708. Epub 2012 Oct 17.

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

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April 2013

CFTR mutations altering CFTR fragmentation.

Authors:

Kendra Tosoni Michelle Stobbart Diane M Cassidy Andrea Venerando Mario A Pagano Simão Luz Margarida D Amaral Karl Kunzelmann Lorenzo A Pinna Carlos M Farinha Anil Mehta

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

Control of TMEM16A by INO-4995 and other inositolphosphates.

Authors:

Yuemin Tian Rainer Schreiber Podchanart Wanitchakool Patthara Kongsuphol Marisa Sousa Inna Uliyakina Marta Palma Diana Faria Alexis E Traynor-Kaplan José I Fragata Margarida D Amaral Karl Kunzelmann

Br J Pharmacol 2013 Jan;168(1):253-65

Institut für Physiologie, Universität Regensburg, Germany.

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January 2013

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

Authors:

Hongyu Li Wanding Yang Filipa Mendes Margarida D Amaral David N Sheppard

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

Regulation of ENaC biogenesis by the stress response protein SERP1.

Authors:

Diana Faria Nicolas Lentze Joana Almaça Simão Luz Luisa Alessio Yuemin Tian José Paulo Martins Pedro Cruz Rainer Schreiber Mandana Rezwan Carlos Miguel Farinha Daniel Auerbach Margarida D Amaral Karl Kunzelmann

Pflugers Arch 2012 Jun 19;463(6):819-27. Epub 2012 Apr 19.

Department of Physiology, University of Regensburg, Regensburg, Germany.

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June 2012

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

Authors:

M Catarina Silva Susan Fox Monica Beam Happy Thakkar Margarida D Amaral Richard I Morimoto

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

Contribution of casein kinase 2 and spleen tyrosine kinase to CFTR trafficking and protein kinase A-induced activity.

Authors:

Simão Luz Patthara Kongsuphol Ana Isabel Mendes Francisco Romeiras Marisa Sousa Rainer Schreiber Paulo Matos Peter Jordan Anil Mehta Margarida D Amaral Karl Kunzelmann Carlos M Farinha

Mol Cell Biol 2011 Nov 19;31(22):4392-404. Epub 2011 Sep 19.

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

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November 2011

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

Authors:

Eva K Roth Stephanie Hirtz Julia Duerr Daniel Wenning Irmgard Eichler Hans H Seydewitz Margarida D Amaral Marcus A Mall

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

F508del-CFTR increases intracellular Ca(2+) signaling that causes enhanced calcium-dependent Cl(-) conductance in cystic fibrosis.

Authors:

Joana Raquel Martins Patthara Kongsuphol Eva Sammels Shehrazade Dahimène Fadi Aldehni Luka Alexander Clarke Rainer Schreiber Humbert de Smedt Margarida D Amaral Karl Kunzelmann

Biochim Biophys Acta 2011 Nov 30;1812(11):1385-92. Epub 2011 Aug 30.

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

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November 2011

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

Authors:

Ana Isabel Mendes Paulo Matos Sónia Moniz Simão Luz Margarida D Amaral Carlos M Farinha Peter Jordan

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.

Authors:

Margarida D Amaral Gergely L Lukacs

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.

Authors:

Anabela S Ramalho Luka A Clarke Margarida D Amaral

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.

Authors:

Margarida D Amaral

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.

Authors:

Joana Almaça Shehrazade Dahimène Nicole Appel Christian Conrad Karl Kunzelmann Rainer Pepperkok Margarida D Amaral

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.

Authors:

Shyam Ramachandran Luka A Clarke Todd E Scheetz Margarida D Amaral Paul B McCray

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?

Authors:

Diana Faria Shehrazade Dahimène Luisa Alessio Toby Scott-Ward Rainer Schreiber Karl Kunzelmann Margarida D Amaral

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.

Authors:

Margarida D Amaral

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.

Authors:

Ana Carina Da Paula Marisa Sousa Zhe Xu Elizabeth S Dawson A Christopher Boyd David N Sheppard Margarida D Amaral

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.

Authors:

Anabela S Ramalho Marzena A Lewandowska Carlos M Farinha Filipa Mendes Juan Gonçalves Celeste Barreto Ann Harris Margarida D Amaral

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.

Authors:

Toby S Scott-Ward Margarida D Amaral

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

AMPK controls epithelial Na(+) channels through Nedd4-2 and causes an epithelial phenotype when mutated.

Authors:

Joana Almaça Patthara Kongsuphol Bernhard Hieke Jiraporn Ousingsawat Benoit Viollet Rainer Schreiber Margarida D Amaral Karl Kunzelmann

Pflugers Arch 2009 Aug 31;458(4):713-21. Epub 2009 Mar 31.

Department of Physiology, University of Regensburg, Regensburg, Germany.

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August 2009

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

Authors:

Tanja Bachhuber Joana Almaça Fadi Aldehni Anil Mehta Margarida D Amaral Rainer Schreiber Karl Kunzelmann

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

Solubilizing mutations used to crystallize one CFTR domain attenuate the trafficking and channel defects caused by the major cystic fibrosis mutation.

Authors:

Luísa S Pissarra Carlos M Farinha Zhe Xu André Schmidt Patrick H Thibodeau Zhiwei Cai Philip J Thomas David N Sheppard Margarida D Amaral

Chem Biol 2008 Jan;15(1):62-9

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

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January 2008

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

Authors:

Susana M Garcia M Olivia Casanueva M Catarina Silva Margarida D Amaral Richard I Morimoto

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