List of works - Margarida Duarte Amaral

A Genetic Screening Strategy Identifies Novel Regulators of the Proteostasis Network ⬇️

scientific article published on December 29, 2011

A Mathematical Model of the Phosphoinositide Pathway

scientific article published on 2 March 2018

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

scientific article published on 20 April 2020

A comparison of 14 antibodies for the biochemical detection of the cystic fibrosis transmembrane conductance regulator protein.

scientific article

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

scientific article published on 19 May 2015

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

scientific article published on 15 November 2017

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

scientific article published on 31 March 2009

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

scientific article published on 31 October 2019

An extract from the medicinal plant Phyllanthus acidus and its isolated compounds induce airway chloride secretion: A potential treatment for cystic fibrosis.

scientific article

Analysis of genomic CFTR DNA.

scientific article published in August 2004

Antibodies for CFTR studies.

scientific article published in August 2004

Applicability of different antibodies for the immunohistochemical localization of CFTR in respiratory and intestinal tissues of human and murine origin

scientific article published in September 2003

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

scientific article

Assessment of CFTR function in native epithelia for the diagnosis of cystic fibrosis.

scientific article published in January 2004

Assessment of CFTR localisation in native airway epithelial cells obtained by nasal brushing.

scientific article published in August 2004

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

scientific article published on 5 October 2012

Bacterial transfer of large functional genomic DNA into human cells

scientific article published on November 2005

Biobanking: towards increased access of biomaterials in cystic fibrosis. Report on the pre-conference meeting to the 13th ECFS Basic Science Conference, Pisa, 30 March-2 April, 2016.

scientific article

Biochemical methods to assess CFTR expression and membrane localization

article

CFTR Cl− channel function in native human colon correlates with the genotype and phenotype in cystic fibrosis

scientific article published on 01 October 2004

CFTR and chaperones: processing and degradation.

scientific article published on January 2004

CFTR biomarkers: time for promotion to surrogate end-point.

scientific article published on 09 August 2012

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

scientific article

CFTR gene transfer to human cystic fibrosis pancreatic duct cells using a Sendai virus vector.

scientific article

CFTR interactome mapping using the mammalian membrane two-hybrid high-throughput screening system

scientific article published on 01 February 2022

CFTR localization in native airway cells and cell lines expressing wild-type or F508del-CFTR by a panel of different antibodies

scientific article published on February 2004

CFTR modulator theratyping: Current status, gaps and future directions

scientific article published on 20 June 2018

CFTR mutations altering CFTR fragmentation

scientific article published on January 2013

CFTR processing, trafficking and interactions

scientific article published on 31 October 2019

Characterization of novel airway submucosal gland cell models for cystic fibrosis studies

scientific article

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

scholarly article

Classification of CFTR mutation classes – Authors' reply

scientific article published on 01 July 2016

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

scientific article published on 27 February 2015

Compartmentalized crosstalk of CFTR and TMEM16A (ANO1) through EPAC1 and ADCY1.

scientific article published on 10 January 2018

Complex cystic fibrosis allele R334W-R1158X results in reduced levels of correctly processed mRNA in a pancreatic sufficient patient

scientific article published on 01 January 1996

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

scientific article

Control of TMEM16A by INO-4995 and other inositolphosphates

scientific article published on January 2013

Correction of a Cystic Fibrosis Splicing Mutation by Antisense Oligonucleotides.

scientific article published on 10 November 2015

Crystallization and preliminary X-ray diffraction analysis of protein L-isoaspartyl O-methyltransferase from wheat germ.

scientific article

Cystic Fibrosis Newborn Screening in Portugal: PAP Value in Populations with Stringent Rules for Genetic Studies

article

Cystic fibrosis F508del patients have apically localized CFTR in a reduced number of airway cells.

scientific article published on June 2000

Cystic fibrosis patients with the 3272-26A-->G mutation have mild disease, leaky alternative mRNA splicing, and CFTR protein at the cell membrane.

scientific article

Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study.

scientific article published in November 2001

Cystic fibrosis — From basic science to clinical benefit: A review series

article

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

scientific article published on 02 June 2018

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

scientific article published on 25 August 2013

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

scientific article published on 20 May 2016

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

scientific article published on 11 November 2010

Epithelial Chloride Transport by CFTR Requires TMEM16A.

scientific article published on 29 September 2017

Escherichia coli-cloned CFTR loci relevant for human artificial chromosome therapy.

scientific article published on September 2010

Establishment and characterization of a novel polarized MDCK epithelial cellular model for CFTR studies.

scientific article published on January 2005

Ethnicity impacts the cystic fibrosis diagnosis: A note of caution

scientific article published on 20 February 2017

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

scientific article

Exploring YAP1-centered networks linking dysfunctional CFTR to epithelial-mesenchymal transition

scientific article published on 02 May 2022

Extent of rescue of F508del-CFTR function by VX-809 and VX-770 in human nasal epithelial cells correlates with SNP rs7512462 in SLC26A9 gene in F508del/F508del Cystic Fibrosis patients

scientific article published on 01 February 2019

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

scientific article published on 30 August 2011

Finding new drugs to enhance anion secretion in cystic fibrosis: Toward suitable systems for better drug screening. Report on the pre-conference meeting to the 12th ECFS Basic Science Conference, Albufeira, 25-28 March 2015.

scientific article

Finding new medicines to fight CF: multiple steps of a success story

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

scientific article published on 14 April 2019

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

scientific article

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

scientific article published on 25 June 2020

Functional genomics assays to study CFTR traffic and ENaC function

scientific article

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

scientific article published on 20 November 2012

Hallmarks of therapeutic management of the cystic fibrosis functional landscape.

scientific article

Heat-shock-induced protein synthesis is responsible for the switch-off of hsp70 transcription in Tetrahymena

scientific article published on 01 August 1993

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

scientific article

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

scientific article published on 19 April 2016

Human epididymis protein 4 (HE4) levels inversely correlate with lung function improvement (delta FEV1) in cystic fibrosis patients receiving ivacaftor treatment

scientific article published on 27 September 2018

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

scientific article published on 23 February 2006

Immunohistochemistry of CFTR in native tissues and primary epithelial cell cultures.

scientific article published in August 2004

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

scientific article published on 14 September 2020

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

scientific article published on 08 August 2012

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

scientific article published on 11 June 2015

Increases in cytosolic Ca2+ induce dynamin- and calcineurin-dependent internalisation of CFTR

scientific article published on 13 December 2018

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

scientific article published on 19 July 2019

Introduction to Section III: Biochemical Methods to Study CFTR Protein

article

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

scientific article published in January 2016

Ionic transport in tall columnar epithelial (TCE) cells obtained by nasal brushing from non-cystic fibrosis (CF) individuals

scientific article

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

scientific article published on 02 July 2020

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

scientific article

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

scientific article

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

scientific article published on 17 December 2014

Methods for RNA extraction, cDNA preparation and analysis of CFTR transcripts.

scientific article published in August 2004

Microarray mRNA Expression Profiling to Study Cystic Fibrosis

scientific article published on 01 January 2011

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

scientific article published on 18 June 2007

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

scientific article

Mutant CFTR Drives TWIST1 mediated epithelial-mesenchymal transition

scientific article published on 26 October 2020

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

scientific article

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

scientific article

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

scientific article

Novel personalized therapies for cystic fibrosis: treating the basic defect in all patients.

scientific article

Partial rescue of F508del-CFTR channel gating with modest improvement of protein processing, but not stability by a dual-acting small molecule

scientific article published on 10 January 2018

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

scientific article published on 5 July 2013

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

scientific article

Progress in therapies for cystic fibrosis

scientific article

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

scientific article published in Scientific Reports

Prolonged treatment of cells with genistein modulates the expression and function of the cystic fibrosis transmembrane conductance regulator.

scientific article published on 28 January 2008

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

scientific article published on 12 March 2015

Proteomic analysis of nasal cells from cystic fibrosis patients and non-cystic fibrosis control individuals: search for novel biomarkers of cystic fibrosis lung disease.

scientific article published in April 2006

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

scientific article published on 31 July 2018

Proteomics techniques for cystic fibrosis research.

scientific article published in August 2004

Quantification of CFTR transcripts.

scientific article

Quantitative methods for the analysis of CFTR transcripts/splicing variants.

scientific article published in August 2004

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

scientific article published on 18 July 2018

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

scientific article

Regulation of ENaC biogenesis by the stress response protein SERP1.

scientific article

Regulation of TMEM16A by CK2 and Its Role in Cellular Proliferation

scientific article published on 05 May 2020

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

scientific article published on 28 February 2008

Relationship between TMEM16A/anoctamin 1 and LRRC8A.

scientific article published on 12 August 2016

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

scientific article

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

scientific article

Solubilizing Mutations Used to Crystallize One CFTR Domain Attenuate the Trafficking and Channel Defects Caused by the Major Cystic Fibrosis Mutation

scientific article published on 01 January 2008

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

scientific article published on 11 July 2019

Stress response of Tetrahymena pyriformis to arsenite and heat shock: Differences and similarities

article

TMEM16A chloride channel does not drive mucus production

scientific article published on 15 November 2019

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

scientific article

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

scientific article published on 10 December 2018

The human DnaJ homologue (Hdj)-1/heat-shock protein (Hsp) 40 co-chaperone is required for the in vivo stabilization of the cystic fibrosis transmembrane conductance regulator by Hsp70

scientific article

The replication timing of CFTR and adjacent genes.

scientific article

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

scientific article published on 4 May 2016

Transcript analysis of the cystic fibrosis splicing mutation 1525-1G>A shows use of multiple alternative splicing sites and suggests a putative role of exonic splicing enhancers.

scientific article

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

scientific article published on 27 July 2015

Unusually common cystic fibrosis mutation in Portugal encodes a misprocessed protein.

scientific article published on November 2003

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

scientific article published on 29 April 2020

mRNA-based detection of rare CFTR mutations improves genetic diagnosis of cystic fibrosis in populations with high genetic heterogeneity.

scientific article

List of works by Margarida Duarte Amaral

A Genetic Screening Strategy Identifies Novel Regulators of the Proteostasis Network ⬇️

A Mathematical Model of the Phosphoinositide Pathway

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

A comparison of 14 antibodies for the biochemical detection of the cystic fibrosis transmembrane conductance regulator protein.

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

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

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

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

An extract from the medicinal plant Phyllanthus acidus and its isolated compounds induce airway chloride secretion: A potential treatment for cystic fibrosis.

Analysis of genomic CFTR DNA.

Antibodies for CFTR studies.

Applicability of different antibodies for the immunohistochemical localization of CFTR in respiratory and intestinal tissues of human and murine origin

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

Assessment of CFTR function in native epithelia for the diagnosis of cystic fibrosis.

Assessment of CFTR localisation in native airway epithelial cells obtained by nasal brushing.

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

Bacterial transfer of large functional genomic DNA into human cells

Biobanking: towards increased access of biomaterials in cystic fibrosis. Report on the pre-conference meeting to the 13th ECFS Basic Science Conference, Pisa, 30 March-2 April, 2016.

Biochemical methods to assess CFTR expression and membrane localization

CFTR Cl− channel function in native human colon correlates with the genotype and phenotype in cystic fibrosis

CFTR and chaperones: processing and degradation.

CFTR biomarkers: time for promotion to surrogate end-point.

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

CFTR gene transfer to human cystic fibrosis pancreatic duct cells using a Sendai virus vector.

CFTR interactome mapping using the mammalian membrane two-hybrid high-throughput screening system

CFTR localization in native airway cells and cell lines expressing wild-type or F508del-CFTR by a panel of different antibodies

CFTR modulator theratyping: Current status, gaps and future directions

CFTR mutations altering CFTR fragmentation

CFTR processing, trafficking and interactions

Characterization of novel airway submucosal gland cell models for cystic fibrosis studies

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

Classification of CFTR mutation classes – Authors' reply

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

Compartmentalized crosstalk of CFTR and TMEM16A (ANO1) through EPAC1 and ADCY1.

Complex cystic fibrosis allele R334W-R1158X results in reduced levels of correctly processed mRNA in a pancreatic sufficient patient

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

Control of TMEM16A by INO-4995 and other inositolphosphates

Correction of a Cystic Fibrosis Splicing Mutation by Antisense Oligonucleotides.

Crystallization and preliminary X-ray diffraction analysis of protein L-isoaspartyl O-methyltransferase from wheat germ.

Cystic Fibrosis Newborn Screening in Portugal: PAP Value in Populations with Stringent Rules for Genetic Studies

Cystic fibrosis F508del patients have apically localized CFTR in a reduced number of airway cells.

Cystic fibrosis patients with the 3272-26A-->G mutation have mild disease, leaky alternative mRNA splicing, and CFTR protein at the cell membrane.

Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study.

Cystic fibrosis — From basic science to clinical benefit: A review series

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

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

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

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

Epithelial Chloride Transport by CFTR Requires TMEM16A.

Escherichia coli-cloned CFTR loci relevant for human artificial chromosome therapy.

Establishment and characterization of a novel polarized MDCK epithelial cellular model for CFTR studies.

Ethnicity impacts the cystic fibrosis diagnosis: A note of caution

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

Exploring YAP1-centered networks linking dysfunctional CFTR to epithelial-mesenchymal transition

Extent of rescue of F508del-CFTR function by VX-809 and VX-770 in human nasal epithelial cells correlates with SNP rs7512462 in SLC26A9 gene in F508del/F508del Cystic Fibrosis patients

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

Finding new drugs to enhance anion secretion in cystic fibrosis: Toward suitable systems for better drug screening. Report on the pre-conference meeting to the 12th ECFS Basic Science Conference, Albufeira, 25-28 March 2015.

Finding new medicines to fight CF: multiple steps of a success story

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

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

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

Functional genomics assays to study CFTR traffic and ENaC function

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

Hallmarks of therapeutic management of the cystic fibrosis functional landscape.

Heat-shock-induced protein synthesis is responsible for the switch-off of hsp70 transcription in Tetrahymena

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

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

Human epididymis protein 4 (HE4) levels inversely correlate with lung function improvement (delta FEV1) in cystic fibrosis patients receiving ivacaftor treatment

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

Immunohistochemistry of CFTR in native tissues and primary epithelial cell cultures.

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

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

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

Increases in cytosolic Ca2+ induce dynamin- and calcineurin-dependent internalisation of CFTR

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

Introduction to Section III: Biochemical Methods to Study CFTR Protein

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

Ionic transport in tall columnar epithelial (TCE) cells obtained by nasal brushing from non-cystic fibrosis (CF) individuals

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