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Full-Text Articles in Medicine and Health Sciences
The Investigation Of Quality Of Life, Perceived Disease Severity, And Adherence In Patients With The G551d Mutation Receiving Ivacaftor Therapy, Heather Young Hathorne
The Investigation Of Quality Of Life, Perceived Disease Severity, And Adherence In Patients With The G551d Mutation Receiving Ivacaftor Therapy, Heather Young Hathorne
All ETDs from UAB
Cystic fibrosis (CF), a genetic disorder, is a chronic life threatening illness that affects 30,000 adults and children in the United States and 70,000 worldwide. Treatment for CF is complex and consuming, consisting of multiple time intensive regimens. The therapy regimen has been descried as extraordinary when compared even to therapy regimens for other chronic illnesses. Oral and nebulized medication therapy, airway clearance therapy, pancreatic enzyme replacement therapy and vitamin /nutritional supplements are all required for the multiorgan treatment regimen for CF. Daily prescribed therapy can include as many as 40-50 pills, breathing treatments lasting up to tow hours a …
Nonsense Suppression In A Cftr Mouse Model And Analysis Of Animo Acids Inserted At Cftr Premature Termination Codons In Mammalian Cells, Xiaojiao Xue
All ETDs from UAB
A nonsense mutation introduces a premature terminations codon (PTC) into an open reading frame (ORF) upstream of a normal stop codon and results in truncated protein production. In frame PTCs account for ~11% of all mutations that cause human genetic diseases. To treat PTC-associated disorders, one approach is to use drugs that facilitate the insertion of amino acids carried by near-cognate aminoacyl-tRNAs at PTCs. Aminoglycosides were shown to suppress nonsense mutations and restore full-length protein production. This process is also termed as readthrough. However, their low efficiency and their potential to induce ototoxicity and nephrotoxicity limits their long-term application for …