Restoration of function of the ∆F508 mutation in cystic fibrosis
نویسندگان
چکیده
منابع مشابه
Mutation in ∆f508 : a Major Cause of Cystic Fibrosis
Cystic fibrosis is the most common serious inherited disorder or autosomal recessive disorder. This disorder is appearing when the CFTR [cystic fibrosis transmembrane conductance regulator] gene mutation is takes place. The CFTR gene is responsible for the formation of CFTR protein which is normally required for the regulation of sweat, mucus and some other body fluids, CFTR protein act as a ch...
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In view of the possible relation between pancreatic function and cystic fibrosis (CF) gene mutations, a detailed study on Italian patients was performed. Seventy pancreatic insufficient and 48 pancreatic sufficient patients were included after very accurate characterisation of their pancreatic and digestive function, all performed in the same CF centre. The CF gene deletion F508 was tested to d...
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Cystic fibrosis is an autosomal recessive disease caused by a wide spectrum of mutations in the gene encoding for the cystic fibrosis transmembrane conductance regulator protein. These mutations that correlate with different phenotypes, vary in their frequency and distribution in different populations. In this study missense mutation R117H that associated with the different clinical symptoms wa...
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15 صفحه اولRestoration of CFTR function in patients with cystic fibrosis carrying the F508del-CFTR mutation
Restoration of BECN1/Beclin 1-dependent autophagy and depletion of SQSTM1/p62 by genetic manipulation or autophagy-stimulatory proteostasis regulators, such as cystamine, have positive effects on mouse models of human cystic fibrosis (CF). These measures rescue the functional expression of the most frequent pathogenic CFTR mutant, F508del, at the respiratory epithelial surface and reduce lung i...
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ژورنال
عنوان ژورنال: Thorax
سال: 2012
ISSN: 0040-6376,1468-3296
DOI: 10.1136/thoraxjnl-2012-201828