Area of research
Pulmonary and Respiratory Medicine · Molecular Biology
Research interest
Research focused on Cystic fibrosis transmembrane conductance regulator and Cystic fibrosis, with related work in Ivacaftor, Cell biology, Potentiator. Notable publications include 'Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene', 'Progress in therapies for cystic fibrosis', and 'CFTR modulator theratyping: Current status, gaps and future directions'.
Global functional genomics reveals GRK5 as a cystic fibrosis therapeutic target synergistic with current modulators
Repeatability and reproducibility of the Forskolin-induced swelling (FIS) assay on intestinal organoids from people with Cystic Fibrosis
Measuring cystic fibrosis drug responses in organoids derived from 2D differentiated nasal epithelia
The <scp>SLC26A9</scp> inhibitor <scp>S9‐A13</scp> provides no evidence for a role of <scp>SLC26A9</scp> in airway chloride secretion but suggests a contribution to regulation of <scp>ASL pH</scp> and gastric proton secretion
Drug Repurposing for Cystic Fibrosis: Identification of Drugs That Induce CFTR-Independent Fluid Secretion in Nasal Organoids
Systems Approaches to Unravel Molecular Function: High-content siRNA Screen Identifies TMEM16A Traffic Regulators as Potential Drug Targets for Cystic Fibrosis
Drug repurposing for Cystic Fibrosis: identification of drugs that induce CFTR-independent fluid secretion in nasal organoids
Global Functional Genomics Reveals GRK5 as a Therapeutic Target for Cystic Fibrosis
"Global Functional Genomics Reveals GRK5 as a Therapeutic Target for Cystic Fibrosis", CFTR interactomes
Global Functional Genomics Reveals GRK5 as a Therapeutic Target for Cystic Fibrosis
"Global Functional Genomics Reveals GRK5 as a Therapeutic Target for Cystic Fibrosis", CFTR interactomes
CyFi-MAP: an interactive pathway-based resource for cystic fibrosis
Protocol for Application, Standardization and Validation of the Forskolin-Induced Swelling Assay in Cystic Fibrosis Human Colon Organoids
An open-source high-content analysis workflow for CFTR function measurements using the forskolin-induced swelling assay
Regulation of TMEM16A by CK2 and Its Role in Cellular Proliferation
Organoids as a personalized medicine tool for ultra-rare mutations in cystic fibrosis: The case of S955P and 1717-2A>G
KLF4 Acts as a wt-CFTR Suppressor through an AKT-Mediated Pathway
Assessment of Distinct Electrophysiological Parameters in Rectal Biopsies for the Choice of the Best Diagnosis/Prognosis Biomarkers for Cystic Fibrosis
Theranostics by testing CFTR modulators in patient-derived materials: The current status and a proposal for subjects with rare CFTR mutations
CFTR modulator theratyping: Current status, gaps and future directions
Compartmentalized crosstalk of CFTR and TMEM16A (ANO1) through EPAC1 and ADCY1
R560S: A class II CFTR mutation that is not rescued by current modulators
Epithelial Chloride Transport by CFTR Requires TMEM16A
A novel microscopy-based assay identifies extended synaptotagmin-1 (ESYT1) as a positive regulator of anoctamin 1 traffic
Progress in therapies for cystic fibrosis
Relationship between TMEM16A/anoctamin 1 and LRRC8A
Protein Traffic Disorders: an Effective High-Throughput Fluorescence Microscopy Pipeline for Drug Discovery
New pharmacological approaches for cystic fibrosis: Promises, progress, pitfalls
CFTR functional measurements in human models for diagnosis, prognosis and personalized therapy
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene