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Contribution of casein kinase 2 and spleen tyrosine kinase to CFTR trafficking ...
Luz, S.; Kongsuphol, P.; Mendes, A.I.; Romeiras, F.; Sousa, M.; Schreiber, R.; Matos, P.; Jordan, P.; Metha, A.; Amaral, M.D.; Kunzelmann, K.Previously, the pleiotropic "master kinase" casein kinase 2 (CK2) was shown to interact with CFTR, the protein responsible for cystic fibrosis (CF). Moreover, CK2 inhibition abolished CFTR conductance in cell-attached membrane patches, native epithelial ducts, and Xenopus oocytes. CFTR possesses two CK2 phosphorylation sites (S422 and T1471), with unclear impact on its processing and trafficking. Here, we inves...
The Agamma-195 (C->G) mutation in hereditary persistence of fetal hemoglobin is...
Schreiber,R.; Gonçalves,M.S.; Junqueira,M.L.; Saad,S.T.O.; Krieger,J.E.; Costa,F.F.Hereditary persistence of fetal hemoglobin is an uncommon, benign disorder in which the expression of gamma-globin genes persists into adult life. Several point mutations have been associated with the increased gamma-globin gene promoter activity. We evaluated the -195 (C->G) mutation by a functional in vitro assay based on the luciferase reporter gene system. The results indicated that the increased promoter a...
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