Search

Your search keyword '"VX-809"' showing total 2 results
Start Over Descriptor "VX-809" Journal respiratory research
2 results on '"VX-809"'

1. c.3623G > A mutation encodes a CFTR protein with impaired channel function.

Author

Xiaoying Zhang, Hothi, Jaspal S., Yanhui H. Zhang, Srinivasan, Saumini, Stokes, Dennis C., Weiqiang Zhang, Zhang, Xiaoying, Zhang, Yanhui H, and Zhang, Weiqiang

Subjects
*CYSTIC fibrosis, *GENETIC disorders in children, *GENETIC mutation, *IMPAIRED oxygen delivery, *MEMBRANE proteins, *BLACK people, *CELLULAR signal transduction, *DOCUMENTATION, *NUCLEOTIDES, *RESEARCH funding
Abstract

Background: The aims of this study were to characterize clinical features of a pediatric African-American cystic fibrosis (CF) patient heterozygous for F508del and a novel c.3623G > A mutation, and to identify the molecular defect(s) associated with c.3623G > A mutation.Methods: The medical record of this patient was analyzed retrospectively. Western blotting and iodide efflux assay were used to study mutant CFTR protein expression level, maturation status, channel function, and the effects of CFTR modulation on these characteristics.Results: The encoding protein of c.3623G > A mutation, G1208D-CFTR, has a moderate processing defect and exhibits impaired channel function, which were partially rescued by using VX-809 or exposed to low temperature (28 °C). The patient has mild CF disease manifestations.Conclusions: Our biochemical findings correlate with the clinical phenotype and suggest that c.3623G > A is a CF-causing mutation. The study helps expand our knowledge of rare CFTR mutations in a minority population and may have important clinical implications for personalized therapeutic intervention. [ABSTRACT FROM AUTHOR]

Published
2016
Full Text
View/download PDF

2. c.3623G > A mutation encodes a CFTR protein with impaired channel function

Author

Yanhui H. Zhang, Dennis C. Stokes, Saumini Srinivasan, Jaspal S. Hothi, Weiqiang Zhang, and Xiaoying Zhang

Subjects
Pulmonary and Respiratory Medicine, 0301 basic medicine, Cystic Fibrosis, Molecular Sequence Data, Population, Mutant, Cystic Fibrosis Transmembrane Conductance Regulator, medicine.disease_cause, Cystic fibrosis, CFTR mutations, 03 medical and health sciences, 0302 clinical medicine, Cystic fibrosis (CF), Humans, Medicine, CFTR, education, education.field_of_study, Mutation, Base Sequence, biology, business.industry, Research, Infant, CFTR modulators, medicine.disease, Molecular biology, Cystic fibrosis transmembrane conductance regulator, 3. Good health, Black or African American, Blot, 030104 developmental biology, 030228 respiratory system, biology.protein, VX-809, Efflux, business, Ion Channel Gating, Function (biology)
Abstract

Background The aims of this study were to characterize clinical features of a pediatric African-American cystic fibrosis (CF) patient heterozygous for F508del and a novel c.3623G > A mutation, and to identify the molecular defect(s) associated with c.3623G > A mutation. Methods The medical record of this patient was analyzed retrospectively. Western blotting and iodide efflux assay were used to study mutant CFTR protein expression level, maturation status, channel function, and the effects of CFTR modulation on these characteristics. Results The encoding protein of c.3623G > A mutation, G1208D-CFTR, has a moderate processing defect and exhibits impaired channel function, which were partially rescued by using VX-809 or exposed to low temperature (28 °C). The patient has mild CF disease manifestations. Conclusions Our biochemical findings correlate with the clinical phenotype and suggest that c.3623G > A is a CF-causing mutation. The study helps expand our knowledge of rare CFTR mutations in a minority population and may have important clinical implications for personalized therapeutic intervention.

Published
2016

Catalog

Books, media, physical & digital resources
See catalog results