Zobrazeno 1 - 10
of 241
pro vyhledávání: '"Eric J, Sorscher"'
Autor:
Nikhil Bharti, Leonardo Santos, Marcos Davyt, Stine Behrmann, Marie Eichholtz, Alejandro Jimenez-Sanchez, Jeong S. Hong, Andras Rab, Eric J. Sorscher, Suki Albers, Zoya Ignatova
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-10 (2024)
Abstract Nonsense mutations – the underlying cause of approximately 11% of all genetic diseases – prematurely terminate protein synthesis by mutating a sense codon to a premature stop or termination codon (PTC). An emerging therapeutic strategy t
Externí odkaz:
https://doaj.org/article/7320e409d0a640aa9c9dacd192b22128
Publikováno v:
PLoS ONE, Vol 19, Iss 7, p e0305832 (2024)
Understanding the mechanisms that underlie de novo mutations (DNMs) can be essential for interpreting human evolution, including aspects such as rapidly diverging genes, conservation of non-coding regulatory elements, and somatic DNA adaptation, amon
Externí odkaz:
https://doaj.org/article/30fec13688db488ca1c7164eac6e53e9
Autor:
Zackery E Plyler, Christopher W McAtee, Aubrey E Hill, Michael R Crowley, Janice M Tindall, Samuel R Tindall, Disha Joshi, Eric J Sorscher
Publikováno v:
PLoS ONE, Vol 19, Iss 5, p e0303257 (2024)
Patterns of single nucleotide polymorphisms (SNPs) in eukaryotic DNA are traditionally attributed to selective pressure, drift, identity descent, or related factors-without accounting for ways in which bias during de novo SNP formation, itself, might
Externí odkaz:
https://doaj.org/article/9af081f218c24a57bacb27a06f5326c0
Autor:
Regina Rab, Annette Ehrhardt, Bhagelu R. Achyut, Disha Joshi, Melissa Gilbert‐Ross, Chunzi Huang, Katharine Floyd, Anton V. Borovjagin, William B. Parker, Eric J. Sorscher, Jeong S. Hong
Publikováno v:
Cancer Reports, Vol 6, Iss 2, Pp n/a-n/a (2023)
Abstract Background Purine nucleoside phosphorylase (PNP) gene transfer represents a promising approach to treatment of head and neck malignancies. We tested recombinant adenovirus already in phase I/II clinical testing and leading‐edge patient‐d
Externí odkaz:
https://doaj.org/article/15b3156b4be14e158f73b9c68fc1972b
Autor:
Rachel Morgan, Candela Manfredi, Kristen F. Easley, Lionel D. Watkins, William R. Hunt, Steven L. Goudy, Eric J. Sorscher, Michael Koval, Samuel A. Molina
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-15 (2022)
Abstract Primary cells isolated from the human respiratory tract are the state-of-the-art for in vitro airway epithelial cell research. Airway cell isolates require media that support expansion of cells in a basal state to maintain the capacity for d
Externí odkaz:
https://doaj.org/article/41cfb60e07be4a36856aefd8991b1db2
A small molecule that induces translational readthrough of CFTR nonsense mutations by eRF1 depletion
Autor:
Jyoti Sharma, Ming Du, Eric Wong, Venkateshwar Mutyam, Yao Li, Jianguo Chen, Jamie Wangen, Kari Thrasher, Lianwu Fu, Ning Peng, Liping Tang, Kaimao Liu, Bini Mathew, Robert J. Bostwick, Corinne E. Augelli-Szafran, Hermann Bihler, Feng Liang, Jerome Mahiou, Josef Saltz, Andras Rab, Jeong Hong, Eric J. Sorscher, Eric M. Mendenhall, Candice J. Coppola, Kim M. Keeling, Rachel Green, Martin Mense, Mark J. Suto, Steven M. Rowe, David M. Bedwell
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-16 (2021)
Premature termination codons can cause early translation termination and lead to disease. Here the authors perform a screen to identify compounds with readthrough activity and show that these reduce eRF1 levels to suppress premature termination assoc
Externí odkaz:
https://doaj.org/article/1010cb2b07ac42418e6fb9795f6fb27c
Publikováno v:
Frontiers in Genome Editing, Vol 4 (2022)
Cystic Fibrosis (CF) is caused by a diverse set of mutations distributed across the approximately 250 thousand base pairs of the CFTR gene locus, of which at least 382 are disease-causing (CFTR2.org). Although a variety of editing tools are now avail
Externí odkaz:
https://doaj.org/article/c70b35dd032144e4b943a9a2064bf1b6
Autor:
Do Yeon Cho, Shaoyan Zhang, Ahmed Lazrak, Daniel Skinner, Harrison M. Thompson, Jessica Grayson, Purushotham Guroji, Saurabh Aggarwal, Zsuzsanna Bebok, Steven M. Rowe, Sadis Matalon, Eric J. Sorscher, Bradford A. Woodworth
Publikováno v:
Redox Biology, Vol 43, Iss , Pp 101998- (2021)
Lipopolysaccharide (LPS) serves as the interface between gram-negative bacteria (GNB) and the innate immune response in respiratory epithelial cells (REC). Herein, we describe a novel biological role of LPS that permits GNB to persist in the respirat
Externí odkaz:
https://doaj.org/article/833ac3ac1c0742a7bd95fc923f346f51
Autor:
Christine Polte, Daniel Wedemeyer, Kathryn E. Oliver, Johannes Wagner, Marcel J. C. Bijvelds, John Mahoney, Hugo R. de Jonge, Eric J. Sorscher, Zoya Ignatova
Publikováno v:
BMC Genomics, Vol 20, Iss S8, Pp 1-12 (2019)
Abstract Background By definition, effect of synonymous single-nucleotide variants (SNVs) on protein folding and function are neutral, as they alter the codon and not the encoded amino acid. Recent examples indicate tissue-specific and transfer RNA (
Externí odkaz:
https://doaj.org/article/3cbbce1c6eb74632b9d6448a1ea289bd
Autor:
Suki Albers, Elizabeth C. Allen, Nikhil Bharti, Marcos Davyt, Disha Joshi, Carlos G. Perez-Garcia, Leonardo Santos, Rajesh Mukthavaram, Miguel Angel Delgado-Toscano, Brandon Molina, Kristen Kuakini, Maher Alayyoubi, Kyoung-Joo Jenny Park, Grishma Acharya, Jose A. Gonzalez, Amit Sagi, Susan E. Birket, Guillermo J. Tearney, Steven M. Rowe, Candela Manfredi, Jeong S. Hong, Kiyoshi Tachikawa, Priya Karmali, Daiki Matsuda, Eric J. Sorscher, Pad Chivukula, Zoya Ignatova
Publikováno v:
Nature.
Nonsense mutations are the underlying cause of approximately 11% of all inherited genetic diseases1. Nonsense mutations convert a sense codon that is decoded by tRNA into a premature termination codon (PTC), resulting in an abrupt termination of tran