Publications by authors named "Zhongzhou Lu"
The advent of precision treatment for cystic fibrosis using small-molecule therapeutics has created a need to estimate potential clinical improvements attributable to increases in cystic fibrosis transmembrane conductance regulator (CFTR) function. To derive CFTR function of a variety of genotypes and correlate with key clinical features (sweat chloride concentration, pancreatic exocrine status, and lung function) to develop benchmarks for assessing response to CFTR modulators. CFTR function assigned to 226 unique genotypes was correlated with the clinical data of 54,671 individuals enrolled in the Clinical and Functional Translation of CFTR (CFTR2) project.
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- Small molecule therapies that target specific CFTR variants have transformed cystic fibrosis (CF) treatment.
- Researchers expressed 43 rare missense CFTR variants in CF bronchial epithelial cells, finding drug response correlated with CFTR function for ivacaftor and lumacaftor therapies.
- Most variants demonstrated greater effectiveness with the ivacaftor-lumacaftor combination therapy, suggesting that individuals with CF carrying these variants can potentially benefit significantly from these treatments, especially in combination.
Missense DNA variants have variable effects upon protein function. Consequently, interpreting their pathogenicity is challenging, especially when they are associated with disease variability. To determine the degree to which functional assays inform interpretation, we analyzed 48 CFTR missense variants associated with variable expressivity of cystic fibrosis (CF).
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