Cargando…

Personalized medicine: Function of CFTR variant p.Arg334Trp is rescued by currently available CFTR modulators

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 respond to currently approved modulators, characterizing their d...

Descripción completa

Detalles Bibliográficos
Autores principales:	Railean, Violeta, Rodrigues, Cláudia S., Ramalho, Sofia S., Silva, Iris A. L., Bartosch, Jan, Farinha, Carlos M., Pankonien, Ines, Amaral, Margarida D.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2023
Materias:	Molecular Biosciences
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10063961/ https://www.ncbi.nlm.nih.gov/pubmed/37006619 http://dx.doi.org/10.3389/fmolb.2023.1155705

Ejemplares similares

Mutant CFTR Drives TWIST1 mediated epithelial–mesenchymal transition
por: Quaresma, Margarida C., et al.
Publicado: (2020)

CFTR, Cell Junctions and the Cytoskeleton
por: Pankonien, Ines, et al.
Publicado: (2022)

Rare Trafficking CFTR Mutations Involve Distinct Cellular Retention Machineries and Require Different Rescuing Strategies
por: Ramalho, Sofia S., et al.
Publicado: (2021)

What Role Does CFTR Play in Development, Differentiation, Regeneration and Cancer?
por: Amaral, Margarida D., et al.
Publicado: (2020)

Additive Potentiation of R334W-CFTR Function by Novel Small Molecules
por: Bacalhau, Mafalda, et al.
Publicado: (2023)

Rescue of Mutant CFTR Trafficking Defect by the Investigational Compound MCG1516A
por: Lopes-Pacheco, Miquéias, et al.
Publicado: (2022)

KLF4 Acts as a wt-CFTR Suppressor through an AKT-Mediated Pathway
por: Sousa, Luis, et al.
Publicado: (2020)

CFTR mutations altering CFTR fragmentation
por: Tosoni, Kendra, et al.
Publicado: (2012)

Pharmacological Responses of the G542X-CFTR to CFTR Modulators
por: Fang, Xinxiu, et al.
Publicado: (2022)

Full Rescue of F508del-CFTR Processing and Function by CFTR Modulators Can Be Achieved by Removal of Two Regulatory Regions
por: Uliyakina, Inna, et al.
Publicado: (2020)

Exploring YAP1-centered networks linking dysfunctional CFTR to epithelial–mesenchymal transition
por: Quaresma, Margarida C, et al.
Publicado: (2022)

Absence of EPAC1 Signaling to Stabilize CFTR in Intestinal Organoids
por: Ferreira, João F., et al.
Publicado: (2022)

Rescue of Rare CFTR Trafficking Mutants Highlights a Structural Location-Dependent Pattern for Correction
por: Zacarias, Sónia, et al.
Publicado: (2023)

The Ubiquitin Ligase RNF34 Participates in the Peripheral Quality Control of CFTR (RNF34 Role in CFTR PeriQC)
por: Taniguchi, Shogo, et al.
Publicado: (2022)

Non‐pulmonary CFTR‐related symptom improvement with ivacaftor in p.Phe508del/p.Arg117His (7T) cystic fibrosis
por: Kuek, Stephanie L., et al.
Publicado: (2022)

Venous thromboembolism is caused by prothrombin p.Arg541Trp mutation in Japanese individuals
por: Yamamoto, Jumpei, et al.
Publicado: (2021)

CFTR Rescue in Intestinal Organoids with GLPG/ABBV-2737, ABBV/GLPG-2222 and ABBV/GLPG-2451 Triple Therapy
por: de Poel, Eyleen, et al.
Publicado: (2021)

Integrity and Stability of PTC Bearing CFTR mRNA and Relevance to Future Modulator Therapies in Cystic Fibrosis
por: Clarke, Luka A., et al.
Publicado: (2021)

Structural and Population-Based Evaluations of TBC1D1 p.Arg125Trp
por: Richardson, Tom G., et al.
Publicado: (2013)

Extracellular phosphate enhances the function of F508del-CFTR rescued by CFTR correctors
por: Saint-Criq, Vinciane, et al.
Publicado: (2021)

Airway Epithelial Inflammation In Vitro Augments the Rescue of Mutant CFTR by Current CFTR Modulator Therapies
por: Gentzsch, Martina, et al.
Publicado: (2021)

Diverse Phenotypic Expression of Cardiomyopathies in a Family with TNNI3 p.Arg145Trp Mutation
por: Hwang, Ji-won, et al.
Publicado: (2017)

Acute Intermittent Porphyria: Complete Phenotype in a Patient with p.Arg173Trp Variant in Thailand
por: Sriprakoon, Vachiravit, et al.
Publicado: (2022)

The bidirectional relationship between CFTR and lipids
por: Cottrill, Kirsten A., et al.
Publicado: (2020)

The p.Arg63Trp polymorphism controls Vav1 functions and Foxp3 regulatory T cell development
por: Colacios, Céline, et al.
Publicado: (2011)

LMTK2-mediated Phosphorylation Regulates CFTR Endocytosis in Human Airway Epithelial Cells
por: Luz, Simão, et al.
Publicado: (2014)

Functional interaction between TRP4 and CFTR in mouse aorta endothelial cells
por: Wei, Lin, et al.
Publicado: (2001)

TMEM16A chloride channel does not drive mucus production
por: Simões, Filipa B, et al.
Publicado: (2019)

Revisiting CFTR Interactions: Old Partners and New Players
por: Farinha, Carlos M., et al.
Publicado: (2021)

A rare homozygous p.Arg87Trp variant of the GBA gene in Gaucher disease: A case report
por: Jilani, Houweyda, et al.
Publicado: (2022)

A BAC Transgene Expressing Human CFTR under Control of Its Regulatory Elements Rescues Cftr Knockout Mice
por: Gawenis, Lara R., et al.
Publicado: (2019)

The CFTR Amplifier Nesolicaftor Rescues TGF-β1 Inhibition of Modulator-Corrected F508del CFTR Function
por: Bengtson, Charles, et al.
Publicado: (2022)

Treatment of Polarized Cystic Fibrosis Airway Cells With HGF Prevents VX-661-Rescued F508del-CFTR Destabilization Caused by Prolonged Co-exposure to VX-770
por: Matos, Ana M., et al.
Publicado: (2021)

Prolonged co-treatment with HGF sustains epithelial integrity and improves pharmacological rescue of Phe508del-CFTR
por: Matos, Ana M., et al.
Publicado: (2018)

Folding Status Is Determinant over Traffic-Competence in Defining CFTR Interactors in the Endoplasmic Reticulum
por: Santos, João D., et al.
Publicado: (2019)

Theratyping of the Rare CFTR Variants E193K and R334W in Rectal Organoid-Derived Epithelial Monolayers
por: Ciciriello, Fabiana, et al.
Publicado: (2022)

Mechanical Properties of Human Bronchial Epithelial Cells Expressing Wt- and Mutant CFTR
por: Carapeto, Ana P., et al.
Publicado: (2020)

Bithiazole Correctors Rescue CFTR Mutants by Two Different Mechanisms
por: Loo, Tip W., et al.
Publicado: (2013)

Network Biology Identifies Novel Regulators of CFTR Trafficking and Membrane Stability
por: Loureiro, Cláudia Almeida, et al.
Publicado: (2019)

Analysis of multiple gene co-expression networks to discover interactions favoring CFTR biogenesis and ΔF508-CFTR rescue
por: Strub, Matthew D., et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_l891rempe4r1n3eolcsbtfnm98