Research Publications

Emily’s Entourage supported the research that resulted in the following publications.


NATURE

March 2019

Small-molecule ion channels increase host defences in cystic fibrosis airway epithelia

AUTHORS
Katrina A. Muraglia, Rajeev S. Chorghade, Bo Ram Kim, Xiao Xiao Tang, Viral S. Shah, Anthony S. Grillo, Page N. Daniels, Alexander G. Cioffi, Philip H. Karp, Lingyang Zhu, Michael J. Welsh, Martin D. Burke

SUMMARY
Pioneering work by Marty Burke, University of Illinois Urbana-Champaign, to develop a new CF therapy by re-purposing an existing drug – Amphotericin B. In collaboration with the University of Iowa, studies in the CF pig revealed the potential therapeutic benefit of Amphotericin B in restoring lung immune defense mechanisms.

READ THE FULL PUBLICATION HERE


NATURE COMMUNICATIONS

February 2019

Engineered transfer RNAs for suppression of premature termination codons

AUTHORS
John D. Lueck, Jae Seok Yoon, Alfredo Perales-Puchalt, Adam L. Mackey, Daniel T. Infield, Mark A. Behlke, Marshall R. Pope, David B. Weiner, William R. Skach, Paul B. McCray Jr., Christopher A. Ahern

SUMMARY
Therapeutic development of transfer RNAs (tRNAs) to recognize disease-causing nonsense mutations – such as W1282X – in the CFTR gene and permit synthesis of full length CFTR protein. This project was lead by Chris Ahern and John Lueck at the University of Iowa and involved scientists at The Wistar Institute in Philadelphia, PA, and The CFF Therapeutics lab in Lexington, MA. Project progression remains a priority of Emily’s Entourage with funding for James Dhalman at Georgia Tech to work on delivering therapeutic tRNAs to the lung.

READ THE FULL PUBLICATION HERE


JOURNAL OF CYSTIC FIBROSIS 

May 2018

Combination potentiator (co-potentiator’) therapy for CF caused by CFTR mutants, including N1303K, that are poorly responsive to single potentiators

AUTHORS
Puay-Wah Phuan, Jung-Ho Son, Joseph-Anthony Tan, Clarabella Li, Ilaria Musante, Loma Zlock, Dennis W. Neilson, Walter E. Finkbeiner, Mark J. Kurth, Luis J. Galietta, Peter M. Haggie, Alan S. Verkman

SUMMARY
A second manuscript for the Verkman group, at the University of California, San Francisco, extends the concept of using Ivacaftor with a second potentiator (a co-potentiator) to significantly elevate the activity of a second rare CFTR mutation (N1303K). Importantly, this study also includes the first demonstration that W1282X-CFTR can be activated by Ivacaftor and a co-potentiator in human nasal epithelial cells. 

READ THE FULL PUBLICATION HERE


JOURNAL OF CYSTIC FIBROSIS 

January 2017

Therapeutic benefit observed with the CFTR potentiator, ivacaftor, in a CF patient homozygous for the W1282X CFTR nonsense mutation

AUTHORS
Venkateshwar Mutyam, Emily Falk Libby, Ning Peng, Denis Hadjiliadis, Michael Bonk, George M. Solomon, Steven M. Rowe

SUMMARY
Clinical study conducted by Steven M. Rowe MD at University of Alabama at Birmingham that demonstrated significant therapeutic benefit of using Ivacaftor (VX-770) in a W1282X homozygous CF subject. The clinical benefits – reduced pulmonary exacerbations, weight gain, reduced insulin usage – support off-label use of this CF drug in W1282X CF subjects.

READ THE FULL PUBLICATION HERE


THE JOURNAL OF BIOLOGICAL CHEMISTRY

November 2016

Correctors and Potentiators Rescue Function of the Truncated W1282X-Cystic Fibrosis Transmembrane Regulator (CFTR) Translation Product

AUTHORS

Peter M. Haggie, Puay-Wah Phuan, Joseph-Anthony Tan, Haijin Xu, Radu G. Avramescu, Doranda Perdomo, Lorna Zlock, Dennis W. Nielson, Walter E. Finkbeiner, Gergely L. Lukacs, Alas S. Verkman

SUMMARY
Drug discovery project conducted at University of California, San Francisco (UCSF) by Alan Verkman, MD, PhD. The study identified potent ‘correctors’ and ‘potentiators’ for the truncated form of CFTR produced by the W1282X mutation, and validated a therapeutic approach for the W1282X mutation similar to that used for delF508.

READ THE FULL PUBLICATION HERE


 

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