Zobrazeno 1 - 10
of 64
pro vyhledávání: '"D. Ghelfi"'
Autor:
Shijie Huang, Arpan Bhattacharya, Mikel D. Ghelfi, Hong Li, Clark Fritsch, David M. Chenoweth, Yale E. Goldman, Barry S. Cooperman
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-14 (2022)
Ataluren is the only nonsense suppressor drug currently approved for clinical use. Here, the authors determine where ataluren binds to the ribosome and how it inhibits termination at nonsense codons.
Externí odkaz:
https://doaj.org/article/52c6bd055f67489bb40a044bb577cd4f
Publikováno v:
Biomolecules, Vol 13, Iss 2, p 242 (2023)
Premature termination codons (PTCs) account for ~12% of all human disease mutations. Translation readthrough-inducing drugs (TRIDs) are prominent among the several therapeutic approaches being used to overcome PTCs. Ataluren is the only TRID that has
Externí odkaz:
https://doaj.org/article/d59e387027ee41c0b0e2be0187997711
Autor:
Arpan Bhattacharya, Mikel D. Ghelfi, Xiaonan Cui, Clark Fritsch, Hong Li, Barry S. Cooperman, Yale E. Goldman
Publikováno v:
Biophysical Journal. 122:490a
Autor:
Saleem Y. Bhat, Mikel D. Ghelfi, Arpan Bhattacharya, Hong Li, Yale E. Goldman, Barry S. Cooperman
Publikováno v:
Biophysical Journal. 122:490a
Autor:
Shijie, Huang, Arpan, Bhattacharya, Mikel D, Ghelfi, Hong, Li, Clark, Fritsch, David M, Chenoweth, Yale E, Goldman, Barry S, Cooperman
Publikováno v:
Nature communications. 13(1)
Genetic diseases are often caused by nonsense mutations, but only one TRID (translation readthrough inducing drug), ataluren, has been approved for clinical use. Ataluren inhibits release factor complex (RFC) termination activity, while not affecting
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America
Significance Nonsense mutations giving rise to premature stop codons (PSCs) cause many diseases, creating the need to develop safe and effective translational read-through–inducing drugs (TRIDs). The current best-characterized TRIDs are ataluren an
Autor:
Arpan Bhattacharya, Shijie Huang, Mikel D. Ghelfi, Hong Li, Clark Fritsch, David M. Chenoweth, Barry S. Cooperman, Yale E. Goldman
Publikováno v:
Biophysical Journal. 121:203a
Autor:
D Ghelfi
Publikováno v:
Therapeutische Umschau. 57:463-466
There are many causes leading to breathing disorders in children. In the newborn period the immature central regulation of breathing can result in a pattern with apneas and bradycardias most commonly seen in the very premature infant. Therefore, duri
Autor:
A. Tatman, I. Van Mourik, A. Warren, A. Williams, W. Whitehouse, D. G. Murdoch Eaton, M. Darowski, J. Livingston, M. Mönkhoff, O. Bänziger, C. Morales, A. Müller, H-U. Bucher, S. Fanconi, László Németh, József Kovács, Ferenc Joó, Kristóf Füzesi, Sándor Pintér, Pál Megyeri, Mária A. Deli, Csongor S. Ábrahám, Rosa I. de la Ibarra, Navero J. L. Pérez, Córdoba A. Palacios, Santamaría E. Ulloa, Jabalquinto M. J. Velasco, Lezcano A. Romanos, L. Schleien Charles, W. Kuluz John, Barry Gelznan, Alan Pinto, B. Simma, R. Burger, M. Falk, J. Uehlinger, D. Ghelfi, P. Sacher, J. I. Sanchez, M. Miralies, Orbe G. de Gonzalez, V. Ramos, A. Manrrique, F. Mar, Frank Shann
Publikováno v:
Intensive Care Medicine. 22:S160-S162
Publikováno v:
European Journal of Pediatrics. 154:236-238
We report a newborn with respiratory distress and situs inversus totalis. The diagnosis of primary ciliary dyskinesia was confirmed by both ultrastructural and functional investigations. The immotile cilia syndrome was suspected because of respirator