Zobrazeno 1 - 10
of 96
pro vyhledávání: '"William R, Skach"'
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-15 (2022)
Abstract Genetic mutations cause a wide spectrum of human disease by disrupting protein folding, both during and after synthesis. Transient de-novo folding intermediates therefore represent potential drug targets for pharmacological correction of pro
Externí odkaz:
https://doaj.org/article/29c685792ae54ada9d6973fcb67764ca
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-11 (2020)
Cystic fibrosis (CF) is a lethal genetic disease that is primarily caused by misfolding of the cystic fibrosis transmembrane conductance regulator (CFTR). Here authors show that disease-causing mutations located within the first nucleotide binding do
Externí odkaz:
https://doaj.org/article/da97e209777a41fe8119566b8058db29
Autor:
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, Christopher A. Ahern
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-11 (2019)
Premature termination codon suppression therapy could be used to treat a range of genetic disorders. Here the authors present a high-throughput cell-based assay to identify anticodon engineered tRNAs with high suppression activity.
Externí odkaz:
https://doaj.org/article/407180d474f9434ca10313d5ef3ae933
Autor:
Peter M. Haggie, Jae Seok Yoon, Mathias Schenkel, Samuel J. Bose, William R. Skach, David N. Sheppard, Michael Schlierf, Demi R S Ng, Georg Krainer, Hideki Shishido
Publikováno v:
Journal of Cystic Fibrosis
Highlights • Co-translational folding of NBD1 is disrupted by CF mutations. • FRET analysis of transmembrane constructs reveals misfolding by CF mutations. • The impact of the F508del mutation on CFTR is species-dependent. • Two potentiators
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::869edb2a0252eb0fd4d99bcb11e3e682
http://europepmc.org/articles/PMC7052731
http://europepmc.org/articles/PMC7052731
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-11 (2020)
Nature Communications
Nature Communications
Protein misfolding causes a wide spectrum of human disease, and therapies that target misfolding are transforming the clinical care of cystic fibrosis. Despite this success, however, very little is known about how disease-causing mutations affect the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7791afc26d25679f532388a857a246b5
https://doi.org/10.1038/s41467-020-18101-8
https://doi.org/10.1038/s41467-020-18101-8
Autor:
Soo Jung Kim, William R Skach
Publikováno v:
Frontiers in Pharmacology, Vol 3 (2012)
In the past decade much has been learned about how CFTR folds and misfolds as the etiologic cause of cystic fibrosis (CF). CFTR folding is complex and hierarchical, takes place in multiple cellular compartments and physical environments, and involves
Externí odkaz:
https://doaj.org/article/54792ac22f3f404f9452130e6440e051
Publikováno v:
Cell reports
Cell Rep
Cell Reports, Vol 36, Iss 2, Pp 109366-(2021)
Cell Rep
Cell Reports, Vol 36, Iss 2, Pp 109366-(2021)
The ubiquitous ribosome-associated complex (RAC) is a chaperone that spans ribosomes, making contacts near both the polypeptide exit tunnel and the decoding center, a position prime for sensing and coordinating translation and folding. Loss of RAC is
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82c63c65e9982c9385a464c8b34781b7
https://doi.org/10.1016/j.celrep.2021.109366
https://doi.org/10.1016/j.celrep.2021.109366
Autor:
Jae Seok Yoon, John D. Lueck, Christopher A. Ahern, William R. Skach, Adam L. Mackey, Alfredo Perales-Puchalt, Daniel T. Infield, Marshall R. Pope, Paul B. McCray, Mark A. Behlke, David B. Weiner
Publikováno v:
Nature Communications
Nature Communications, Vol 10, Iss 1, Pp 1-11 (2019)
Nature Communications, Vol 10, Iss 1, Pp 1-11 (2019)
Premature termination codons (PTCs) are responsible for 10–15% of all inherited disease. PTC suppression during translation offers a promising approach to treat a variety of genetic disorders, yet small molecules that promote PTC read-through have
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::401817f9b95735242f6745eb42334832
https://doi.org/10.1038/s41467-019-08329-4
https://doi.org/10.1038/s41467-019-08329-4
Autor:
Zhongying Yang, Soo Jung Kim, Lee Ann A. Rooney, Hideki Shishido, José M. Barral, William R. Skach, Jae Seok Yoon
Publikováno v:
Science. 348:444-448
In cells, biosynthetic machinery coordinates protein synthesis and folding to optimize efficiency and minimize off-pathway outcomes. However, it has been difficult to delineate experimentally the mechanisms responsible. Using fluorescence resonance e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dd5456b34bb26d99971ecb1432a3fb9f
https://doi.org/10.1126/science.aaa3974
https://doi.org/10.1126/science.aaa3974
Autor:
Amy Leitman, Timothy R. Aksamit, Emily Henkle, Elisha Malanga, Charles L. Daley, Kevin L. Winthrop, Kenneth N. Olivier, Alan F. Barker, William R. Skach, John W. Walsh, Theodore K. Marras, Alexandra L. Quittner, Philip Leitman, D. Rebecca Prevots, Delia Prieto, David E. Griffith
Publikováno v:
Annals of the American Thoracic Society. 13(9)
Nontuberculous mycobacteria (NTM) cause an increasingly important chronic and debilitating lung disease in older adults. Diagnosis is often delayed, although awareness among clinicians and patients is increasing. When necessary, treatment often lasts
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ffb29cf8ee0aadfd1f854381f51124e
https://pubmed.ncbi.nlm.nih.gov/27627485
https://pubmed.ncbi.nlm.nih.gov/27627485