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Full-Text Articles in Medicine and Health Sciences
Molecular Characterization Of The Rare Cftr Mutation P67l As A Model For Genotype-Specific Drug Development And Personalized Medicine In Cystic Fibrosis, Carleen Mae Pomperada Sabusap
Molecular Characterization Of The Rare Cftr Mutation P67l As A Model For Genotype-Specific Drug Development And Personalized Medicine In Cystic Fibrosis, Carleen Mae Pomperada Sabusap
All ETDs from UAB
The traditional CFTR functional defect subcategories (i.e. protein misfolding, gating, conductance, etc.) are sometimes inadequate for determining patients most likely to benefit from emerging modulator treatment. We employ the P67L variant as emblematic of ways a thorough biochemical analysis of a rare CF defect can guide new therapeutic approaches, help predict drug response, and facilitate clinical precision. Historically, P67L has been designated a class IV conductance abnormality (i.e., malformed ion pore). In contrast, our studies demonstrate P67L disrupts CFTR protein maturation, prompts misfolding, causes gating defects, and exhibits wild-type like conductance. We show that P67L CFTR is robustly rescued by …
The Oxidative Tyrosine Modification, O,O’-Dityrosine, In Lung Disease, Morgan Locy
The Oxidative Tyrosine Modification, O,O’-Dityrosine, In Lung Disease, Morgan Locy
All ETDs from UAB
The oxidative tyrosine modification, o,o′-dityrosine, has been identified in various pathologic conditions associated with oxidative stress in mammalian systems, and demonstrated to be important in physiologic processes in invertebrate organisms. The formation of o,o’-dityrosine is catalyzed by a heme peroxidase (hPx) in the presence of hydrogen peroxide (H2O2). The understanding of this stable, covalent tyrosine modifica-tion in lung biology is limited. Oxidative stress has been implicated in the pathogenesis of various lung diseases, including interstitial lung disease (ILD) and cystic fibrosis (CF). We observed that the oxidative protein modification, o,o’-dityrosine, was markedly ele-vated in the circulating plasma of ILD patients …
Gender-Specific Facilitators And Barriers To Health-Related Quality Of Life In Adults With Cystic Fibrosis: A Mixed Methods Study, Leigh Ann Bray
Gender-Specific Facilitators And Barriers To Health-Related Quality Of Life In Adults With Cystic Fibrosis: A Mixed Methods Study, Leigh Ann Bray
All ETDs from UAB
BACKGROUND: With the life expectancy of individuals with cystic fibrosis (CF) doubling over the last two decades, it is critical that healthcare providers address both quantity and quality of life. Health-related quality of life (HRQoL) encompasses physical, social, psychological, and functional aspects of daily living and how CF impacts each one. Women with CF consistently report having an overall poorer quality of life across international studies, but the cause of the gender difference is unknown. The purpose of this study was to explore gender differences in HRQoL and then build upon those results to better understand gender-specific facilitators and barriers …
Mucus Adhesion As A Therapeutic Target In Cystic Fibrosis, Courtney Fernandez Petty
Mucus Adhesion As A Therapeutic Target In Cystic Fibrosis, Courtney Fernandez Petty
All ETDs from UAB
Cystic fibrosis (CF) is a genetic disease resulting from mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. CFTR is an ion channel responsible for proper movement of chloride and bicarbonate ions across the apical cell surface. Defective CFTR results in an absence of bicarbonate transport, which functions in part to chelate Ca2+, a divalent cation found in abundance in mucin granules in normal conditions; this yields a hyperviscous and adhesive mucus on the respiratory and gastrointestinal tracts of patients with CF. Bronchial mucins are glycosylated proteins with neutral and negative sugars modified by negatively charged sialic and neuraminic …