The role of functional studies in the diagnosis and treatment of Cystic Fibrosis: comparing the case of the G970D and G970R mutation

Autor: Amato F, Scudieri P, Musante I, Tomati V, Caci E, Comegna M, Maietta S, Manzoni F, Di Lullo AM, De Wachter E, Vanderhelst Eef, Terlizzi V, Braggion C, Castaldo G, Galietta LJV.

More than 2000 CFTR mutations have been identified so far, but only few of them are clearly defined as CF-causing based on functional studies. We present a case of a rare mutation, the G970D, that has been shown using transfected cDNA in HEK293 cells

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3730::3908dada9b743e3c9fbc6b806fc571bf
http://hdl.handle.net/11588/802542

Proinflammatory cytokine secretion is suppressed by TMEM16A or CFTR channel activity in human cystic fibrosis bronchial epithelia

Autor: Verkman, Alan, Veit, G, Bossard, F, Goepp, J, Verkman, AS, Galietta, LJV, Hanrahan, JW, Lukacs, GL

Publikováno v: Verkman, Alan; Veit, G; Bossard, F; Goepp, J; Verkman, AS; Galietta, LJV; et al.(2012). Proinflammatory cytokine secretion is suppressed by TMEM16A or CFTR channel activity in human cystic fibrosis bronchial epithelia. UC San Francisco: Retrieved from: http://www.escholarship.org/uc/item/9zp399qz

Cystic fibrosis (CF) is caused by the functional expression defect of the CF transmembrane conductance regulator (CFTR) chloride channel at the apical plasma membrane. Impaired bacterial clearance and hyperactive innate immune response are hallmarks

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::881cc39ce98da629f425b686ec0af8c2
http://www.escholarship.org/uc/item/9zp399qz

VOLUME-SENSITIVE CHLORIDE CURRENTS IN 4 EPITHELIAL CELL LINES ARE NOT DIRECTLY CORRELATED TO THE EXPRESSION OF THE MDR-1 GENE

Autor: Rasola, Andrea, Galietta, Ljv, Gruenert, Dc, Romeo, G.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3657::1ef925a4220aec532425902d53784447
http://hdl.handle.net/11577/150839

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