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

Autor: Violeta Railean, Cláudia S. Rodrigues, Sofia S. Ramalho, Iris A. L. Silva, Jan Bartosch, Carlos M. Farinha, Ines Pankonien, Margarida D. Amaral

Publikováno v: Frontiers in Molecular Biosciences, Vol 10 (2023)

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 cur

Externí odkaz: https://doaj.org/article/c60cd204f58f4cc1ab638f25e1b04263

Severity of the S1251N allele in cystic fibrosis is affected by the presence of the F508C variant in cis

Autor: Senne Cuyx, Sofia S. Ramalho, Isabelle Callebaut, Harry Cuppens, Arthur Kmit, Kaline Arnauts, Marc Ferrante, Catherine Verfaillie, Marjolein Ensinck, Marianne S. Carlon, Mieke Boon, Marijke Proesmans, Lieven Dupont, Kris De Boeck, Carlos M. Farinha, François Vermeulen, Anabela S. Ramalho

Publikováno v: Journal of Cystic Fibrosis. 21:644-651

In cystic fibrosis (CF), genotype-phenotype correlation is complicated by the large number of CFTR variants, the influence of modifier genes, environmental effects, and the existence of complex alleles. We document the importance of complex alleles,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33bd19c9d74f42cb6115d132c6f46aca
https://doi.org/10.1016/j.jcf.2022.05.013

Rare Trafficking CFTR Mutations Involve Distinct Cellular Retention Machineries and Require Different Rescuing Strategies

Autor: Sofia S. Ramalho, Iris A. L. Silva, Margarida D. Amaral, Carlos M. Farinha

Publikováno v: International Journal of Molecular Sciences; Volume 23; Issue 1; Pages: 24
International Journal of Molecular Sciences, Vol 23, Iss 24, p 24 (2022)
International Journal of Molecular Sciences

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 response to these

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad62e7d9c6b3f21fe0f7e44a8c8f1bb7
https://doi.org/10.3390/ijms23010024

Research Reports from University of Lisbon Provide New Insights into Cystic Fibrosis (Rescue of Rare CFTR Trafficking Mutants Highlights a Structural Location-Dependent Pattern for Correction).

Publikováno v: Gastroenterology Week; 2/20/2023, p334-334, 1p

Rescue of Mutant CFTR Trafficking Defect by the Investigational Compound MCG1516A.

Autor: Lopes-Pacheco, Miquéias¹ (AUTHOR) mrbacalhau@fc.ul.pt, Bacalhau, Mafalda¹ (AUTHOR) ssramalho@fc.ul.pt, Ramalho, Sofia S.¹ (AUTHOR) iasilva@fc.ul.pt, Silva, Iris A. L.¹ (AUTHOR) fc47772@alunos.fc.ul.pt, Ferreira, Filipa C.¹ (AUTHOR) cmfarinha@fc.ul.pt, Carlile, Graeme W.² (AUTHOR) graeme.carlile@mcgill.ca, Thomas, David Y.² (AUTHOR) david.thomas@mcgill.ca, Farinha, Carlos M.¹ (AUTHOR) msamaral@fc.ul.pt, Hanrahan, John W.³ (AUTHOR) john.hanrahan@mcgill.ca, Amaral, Margarida D.¹ (AUTHOR)

Publikováno v: Cells (2073-4409). Jan2022, Vol. 11 Issue 1, p136. 1p.