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

Autor: Inna Uliyakina, Hugo M. Botelho, Ana C. da Paula, Sara Afonso, Miguel J. Lobo, Verónica Felício, Carlos M. Farinha, Margarida D. Amaral

Publikováno v: International Journal of Molecular Sciences, Vol 21, Iss 12, p 4524 (2020)

Cystic Fibrosis (CF) is caused by mutations in the CF Transmembrane conductance Regulator (CFTR), the only ATP-binding cassette (ABC) transporter functioning as a channel. Unique to CFTR is a regulatory domain which includes a highly conformationally

Externí odkaz: https://doaj.org/article/7989cd197b8f4885a70b6b04fddf33c2

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

Autor: Marisa Sousa, Maria F Servidoni, Adriana M Vinagre, Anabela S Ramalho, Luciana C Bonadia, Verónica Felício, Maria A Ribeiro, Inna Uliyakina, Fernando A Marson, Arthur Kmit, Silvia R Cardoso, José D Ribeiro, Carmen S Bertuzzo, Lisete Sousa, Karl Kunzelmann, Antônio F Ribeiro, Margarida D Amaral

Publikováno v: PLoS ONE, Vol 7, Iss 10, p e47708 (2012)

BackgroundCystic Fibrosis (CF) is caused by ∼1,900 mutations in the CF transmembrane conductance regulator (CFTR) gene encoding for a cAMP-regulated chloride (Cl(-)) channel expressed in several epithelia. Clinical features are dominated by respira

Externí odkaz: https://doaj.org/article/2860c930e59242669d87fa4093d5ef95

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

Autor: Jeffrey Beekman, Margarida D. Amaral, Luísa Pereira, Nikhil T. Awatade, Carmen Silvia Bertuzzo, José E. Cavaco, Verónica Felício, Luka A. Clarke, Celeste Barreto, Iris A.L. Silva, Silvia Gartner, Maite Calucho, Pilar Azevedo

Publikováno v: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Human Mutation, 40(3), 326. Wiley-Liss Inc.

A major challenge in cystic fibrosis (CF) research is applying mutation-specific therapy to individual patients with diverse and rare CF transmembrane conductance regulator (CFTR) genotypes. Read-through agents are currently the most promising approa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1cb5802802526e8b3757f532955ffe0
https://hdl.handle.net/10400.17/3494

Full Rescue of F508del-CFTR Processing and Function by CFTR Modulators can be Achieved by Removal of Two Unique Regulatory Regions

Autor: Margarida D. Amaral, Miguel J Lobo, Verónica Felício, Inna Uliyakina, Carlos M. Farinha, Ana Carina Da Paula, Sara Afonso, Hugo M. Botelho

Background and Purpose: Cystic Fibrosis (CF) is caused by mutations in the CF Transmembrane conductance Regulator (CFTR), the only ABC transporter functioning as a channel. Unique to CFTR are two highly conformationally dynamic regions: the regulator

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a446e0da0513993b34ad0f7f4197080a
https://doi.org/10.1101/320630

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

Autor: Verónica Felício, Margarida D. Amaral, Susana Igreja, Anabela S. Ramalho

Publikováno v: Clinical genetics. 91(3)

Even with advent of next generation sequencing complete sequencing of large disease-associated genes and intronic regions is economically not feasible. This is the case of cystic fibrosis transmembrane conductance regulator (CFTR), the gene responsib

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44a0c13b83582324953eb411b24e803a
https://pubmed.ncbi.nlm.nih.gov/27174726