Iris A. L. Silva
YOU?
Author Swipe
Infection by Vibrio harveyi in Broodstock Senegalese sole (Solea senegalensis) in South Portugal Open
Aquaculture evolution is required to keep up with the demand for fish supply. Consequently, disease outbreaks are more frequent, causing substantial losses for the industry. An important pathology in fish is vibriosis, caused by Vibrio sp.…
Personalized Medicine in Cystic Fibrosis: Characterization of Eight Rare CFTR Variants in Intestinal Organoids and Cellular Models Open
This work highlights the importance of using patient-derived intestinal organoids as a theranostic tool to predict the clinical benefit and thus increase the number of people with cystic fibrosis with access to the currently approved CFTRm…
Worten – An Analysis of the Organizational Structure Open
Worten was chosen as the object of study due to its recognition in the national and international market, as well as the ease of access to information. This project aims to deepen the understanding of the organizational structure of a succ…
Laminaria digitata Supplementation as a Climate-Smart Strategy to Counteract the Interactive Effects of Marine Heatwaves and Disease Outbreaks in Farmed Gilthead Seabream (Sparus aurata) Open
Extreme weather events, such as marine heatwaves (MHWs), pose serious threats to the aquaculture sector, facilitating the occurrence of disease outbreaks and compromising farmed animals’ welfare and survival. Hence, finding eco-innovative …
View article: Análise da Disponibilidade Hídrica na Bacia Hidrográfica do Rio Sapucaí, vertente paulista, Brasil
Análise da Disponibilidade Hídrica na Bacia Hidrográfica do Rio Sapucaí, vertente paulista, Brasil Open
This article presents the analysis of water availability in the Sapucaí River basin, on the São Paulo slope, Brazil. To this end, the requirements for water uses from the Electronic Grant System database on the website of the Department of…
Repeatability and reproducibility of the Forskolin-induced swelling (FIS) assay on intestinal organoids from people with Cystic Fibrosis Open
The observed repeatability and reproducibility of the FIS assay within and across different labs is high and support the use of FIS as biomarker of CFTR function in the presence or absence of CFTR modulators.
Personalized medicine: Function of CFTR variant p.Arg334Trp is rescued by currently available CFTR modulators Open
Most of the 2,100 CFTR gene variants reported to date are still unknown in terms of their disease liability in Cystic Fibrosis (CF) and their molecular and cellular mechanism that leads to CFTR dysfunction. Since some rare variants may res…
Additive Potentiation of R334W-CFTR Function by Novel Small Molecules Open
The R334W (c.1000C>T, p.Arg334Trp) is a rare cystic fibrosis (CF)-causing mutation for which no causal therapy is currently approved. This mutation leads to a significant reduction of CF transmembrane conductance regulator (CFTR) channel c…
Advances in Preclinical In Vitro Models for the Translation of Precision Medicine for Cystic Fibrosis Open
The development of preclinical in vitro models has provided significant progress to the studies of cystic fibrosis (CF), a frequently fatal monogenic disease caused by mutations in the gene encoding the CF transmembrane conductance regulat…
View article: Measuring cystic fibrosis drug responses in organoids derived from 2D differentiated nasal epithelia
Measuring cystic fibrosis drug responses in organoids derived from 2D differentiated nasal epithelia Open
Cystic fibrosis is caused by genetic defects that impair the CFTR channel in airway epithelial cells. These defects may be overcome by specific CFTR modulating drugs, for which the efficacy can be predicted in a personalized manner using 3…
Absence of EPAC1 Signaling to Stabilize CFTR in Intestinal Organoids Open
The plasma membrane (PM) stability of the cystic fibrosis transmembrane conductance regulator (CFTR), the protein which when mutated causes Cystic Fibrosis (CF), relies on multiple interaction partners that connect CFTR to signaling pathwa…
Editorial: Mechanisms of Novel Drugs and Gene Modifiers in the Treatment of Cystic Fibrosis Open
EDITORIAL article Front. Mol. Biosci., 12 July 2022Sec. Cellular Biochemistry https://doi.org/10.3389/fmolb.2022.975946
Rescue of Mutant CFTR Trafficking Defect by the Investigational Compound MCG1516A Open
Although some therapeutic progress has been achieved in developing small molecules that correct F508del-CFTR defects, the mechanism of action (MoA) of these compounds remain poorly elucidated. Here, we investigated the effects and MoA of M…
View article: New drugs in cystic fibrosis: what has changed in the last decade?
New drugs in cystic fibrosis: what has changed in the last decade? Open
Cystic fibrosis (CF), a life-limiting chronic disease caused by mutations in the cystic fibrosis transmembrane regulator (CFTR) gene, affects more than 90,000 people worldwide. Until recently, the only available treatments were directed to…
Rare Trafficking CFTR Mutations Involve Distinct Cellular Retention Machineries and Require Different Rescuing Strategies Open
Most of the ~2100 CFTR variants so far reported are very rare and still uncharacterized regarding their cystic fibrosis (CF) disease liability. Since some may respond to currently approved modulators, characterizing their defect and respon…
Synergy in Cystic Fibrosis Therapies: Targeting SLC26A9 Open
SLC26A9, a constitutively active Cl− transporter, has gained interest over the past years as a relevant disease modifier in several respiratory disorders including Cystic Fibrosis (CF), asthma, and non-CF bronchiectasis. SLC26A9 contribute…
View article: Measuring cystic fibrosis drug responses in organoids derived from 2D differentiated nasal epithelia
Measuring cystic fibrosis drug responses in organoids derived from 2D differentiated nasal epithelia Open
Cystic Fibrosis (CF) is caused by genetic defects that impair the cystic fibrosis transmembrane conductance regulator (CFTR) channel in airway epithelial cells. These defects may be overcome by specific CFTR modulating drugs, for which the…
Pediatric population with cystic fibrosis in the centre of Portugal: candidates for new therapies Open
Genetic and molecular characterization of PwCF poses an important step not just for CF diagnosis and prognosis which is tightly correlated with the clinical phenotype, but also for the eligibility of CFTR modulator drugs.
Pharmacological Modulation of Ion Channels for the Treatment of Cystic Fibrosis Open
Cystic fibrosis (CF) is a life-shortening monogenic disease caused by mutations in the gene encoding the CF transmembrane conductance regulator (CFTR) protein, an anion channel that transports chloride and bicarbonate across epithelia. Des…
Personalized Medicine Based on Nasal Epithelial Cells: Comparative Studies with Rectal Biopsies and Intestinal Organoids Open
As highly effective CFTR modulator therapies (HEMT) emerge, there is an unmet need to find effective drugs for people with CF (PwCF) with ultra-rare mutations who are too few for classical clinical trials and for whom there are no drug dis…
Assessment of Distinct Electrophysiological Parameters in Rectal Biopsies for the Choice of the Best Diagnosis/Prognosis Biomarkers for Cystic Fibrosis Open
Most cases of Cystic Fibrosis (CF) are diagnosed early in life. However, people with atypical CF forms pose diagnosis dilemmas, requiring laboratory support for diagnosis confirmation/exclusion. Ex vivo analysis of fresh rectal biopsies by…
View article: An open-source high-content analysis workflow for CFTR function measurements using the forskolin-induced swelling assay
An open-source high-content analysis workflow for CFTR function measurements using the forskolin-induced swelling assay Open
Motivation The forskolin-induced swelling (FIS) assay has become the preferential assay to predict the efficacy of approved and investigational CFTR-modulating drugs for individuals with cystic fibrosis (CF). Currently, no standardized qua…
KLF4 Acts as a wt-CFTR Suppressor through an AKT-Mediated Pathway Open
Cystic Fibrosis (CF) is caused by >2000 mutations in the CF transmembrane conductance regulator (CFTR) gene, but one mutation—F508del—occurs in ~80% of patients worldwide. Besides its main function as an anion channel, the CFTR protein has…
View article: Rationale and design of the HIT-CF organoid study: stratifying cystic fibrosis patients based on intestinal organoid response to different CFTR-modulators
Rationale and design of the HIT-CF organoid study: stratifying cystic fibrosis patients based on intestinal organoid response to different CFTR-modulators Open
Background Cystic fibrosis is a rare recessive monogenic disease caused by loss-of-function mutations in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene. Recently developed CFTR-modulators (i.e. drugs that rescue CFTR-f…
Characterization of the Mechanism of Action of RDR01752, a Novel Corrector of F508del-CFTR Open
Background and Purpose: Despite progress in developing pharmacotherapies to rescue F508del-CFTR, the most prevalent Cystic Fibrosis (CF)-causing mutation, individuals homozygous for this mutation still face several disease-related symptoms…
TMEM16A chloride channel does not drive mucus production Open
Airway mucus obstruction is the main cause of morbidity in cystic fibrosis, a disease caused by mutations in the CFTR Cl − channel. Activation of non-CFTR Cl − channels such as TMEM16A can likely compensate for defective CFTR. However, TME…