Zobrazeno 1 - 10
of 123
pro vyhledávání: '"Marla, Weetall"'
Autor:
Anastasia Schultz, Shun-Yun Cheng, Emily Kirchner, Stephanann Costello, Heini Miettinen, Marta Chaverra, Colin King, Lynn George, Xin Zhao, Jana Narasimhan, Marla Weetall, Susan Slaugenhaupt, Elisabetta Morini, Claudio Punzo, Frances Lefcort
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-11 (2023)
Abstract Familial dysautonomia (FD) is a rare neurodevelopmental and neurodegenerative disease caused by a splicing mutation in the Elongator Acetyltransferase Complex Subunit 1 (ELP1) gene. The reduction in ELP1 mRNA and protein leads to the death o
Externí odkaz:
https://doaj.org/article/83a6ea28e4b34dc28cd0386f1edc3e10
Publikováno v:
Frontiers in Oncology, Vol 13 (2023)
Externí odkaz:
https://doaj.org/article/b82d3a49792b4d50a8a8058755972592
Autor:
Anindya Dey, Shailendra Kumar Dhar Dwivedi, Lin Wang, Md Nazir Hossen, Fiifi Neizer-Ashun, Magdalena Bieniasz, Priyabrata Mukherjee, John D. Baird, Marla Weetall, Resham Bhattacharya
Publikováno v:
Genes and Diseases, Vol 9, Iss 6, Pp 1415-1418 (2022)
Externí odkaz:
https://doaj.org/article/a48c82a17d734bd19377dd0f2526ad7d
Autor:
Anuradha Bhattacharyya, Christopher R. Trotta, Jana Narasimhan, Kari J. Wiedinger, Wencheng Li, Kerstin A. Effenberger, Matthew G. Woll, Minakshi B. Jani, Nicole Risher, Shirley Yeh, Yaofeng Cheng, Nadiya Sydorenko, Young-Choon Moon, Gary M. Karp, Marla Weetall, Amal Dakka, Vijayalakshmi Gabbeta, Nikolai A. Naryshkin, Jason D. Graci, Thomas Tripodi, Amber Southwell, Michael Hayden, Joseph M. Colacino, Stuart W. Peltz
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-12 (2021)
Here the authors describe the discovery of a class of small molecule splicing modifiers which are orally bioavailable, cross the blood-brain barrier, and lower levels of huntingtin in a mouse model of Huntington’s disease (HD).
Externí odkaz:
https://doaj.org/article/7d4bfc4e0c074bdc9d52a1e84c8c63c4
Autor:
Giorgia Maroni, Mahmoud A. Bassal, Indira Krishnan, Chee Wai Fhu, Virginia Savova, Rapolas Zilionis, Valerie A. Maymi, Nicole Pandell, Eva Csizmadia, Junyan Zhang, Barbara Storti, Julio Castaño, Riccardo Panella, Jia Li, Corinne E. Gustafson, Sam Fox, Rachel D. Levy, Claire V. Meyerovitz, Peter J. Tramontozzi, Kimberly Vermilya, Assunta De Rienzo, Stefania Crucitta, Daniela S. Bassères, Marla Weetall, Art Branstrom, Alessandra Giorgetti, Raffaele Ciampi, Marzia Del Re, Romano Danesi, Ranieri Bizzarri, Henry Yang, Olivier Kocher, Allon M. Klein, Robert S. Welner, Raphael Bueno, Maria Cristina Magli, John G. Clohessy, Azhar Ali, Daniel G. Tenen, Elena Levantini
Publikováno v:
Communications Biology, Vol 4, Iss 1, Pp 1-15 (2021)
Maroni, Bassal, Krishnan et al. characterise human non-small cell lung cancer (NSCLC) carrying Kras-mutations by single-cell RNA sequencing. They identify a tumour-specific population that is conserved in mice and responds to the drug, PTC596, which
Externí odkaz:
https://doaj.org/article/2b905167a9874951ba0ccb3de9335972
Autor:
Yurie Nagai, Naoya Mimura, Ola Rizq, Yusuke Isshiki, Motohiko Oshima, Mohamed Rizk, Atsunori Saraya, Shuhei Koide, Yaeko Nakajima-Takagi, Makiko Miyota, Tetsuhiro Chiba, Nagisa Oshima-Hasegawa, Tomoya Muto, Shokichi Tsukamoto, Shio Mitsukawa, Yusuke Takeda, Chikako Ohwada, Masahiro Takeuchi, Tohru Iseki, Chiaki Nakaseko, William Lennox, Josephine Sheedy, Marla Weetall, Koutaro Yokote, Atsushi Iwama, Emiko Sakaida
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-14 (2021)
Abstract The novel small molecule PTC596 inhibits microtubule polymerization and its clinical development has been initiated for some solid cancers. We herein investigated the preclinical efficacy of PTC596 alone and in combination with proteasome in
Externí odkaz:
https://doaj.org/article/481913bfae7549a8909dc48c57cf66bb
Autor:
Arthur Branstrom, Liangxian Cao, Bansri Furia, Christopher Trotta, Marianne Santaguida, Jason D. Graci, Joseph M. Colacino, Balmiki Ray, Wencheng Li, Josephine Sheedy, Anna Mollin, Shirley Yeh, Ronald Kong, Richard Sheridan, John D. Baird, Kylie O’Keefe, Robert Spiegel, Elizabeth Goodwin, Suzanne Keating, Marla Weetall
Publikováno v:
Frontiers in Oncology, Vol 12 (2022)
Blocking the pyrimidine nucleotide de novo synthesis pathway by inhibiting dihydroorotate dehydrogenase (DHODH) results in the cell cycle arrest and/or differentiation of rapidly proliferating cells including activated lymphocytes, cancer cells, or v
Externí odkaz:
https://doaj.org/article/811abbf56e4c48f29740cec2bf4b6b7f
Autor:
Elisabetta Morini, Anil Chekuri, Emily M. Logan, Jessica M. Bolduc, Emily G. Kirchner, Monica Salani, Aram J. Krauson, Jana Narasimhan, Vijayalakshmi Gabbeta, Shivani Grover, Amal Dakka, Anna Mollin, Stephen P. Jung, Xin Zhao, Nanjing Zhang, Sophie Zhang, Michael Arnold, Matthew G. Woll, Nikolai A. Naryshkin, Marla Weetall, Susan A. Slaugenhaupt
Publikováno v:
The American Journal of Human Genetics. 110:531-547
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ca971e4cab6c002ffc2931002b457f68
https://doi.org/10.1016/j.ajhg.2023.01.019
https://doi.org/10.1016/j.ajhg.2023.01.019
Autor:
Ronald Kong, Jiyuan Ma, Seongwoo Hwang, Young‐Choon Moon, Ellen M. Welch, Marla Weetall, Joseph M. Colacino, Neil Almstead, John Babiak, Elizabeth Goodwin
Publikováno v:
Pharmacology Research & Perspectives, Vol 8, Iss 2, Pp n/a-n/a (2020)
Abstract Ataluren promotes ribosomal readthrough of premature termination codons in mRNA which result from nonsense mutations. In vitro studies were performed to characterize the metabolism and enzyme kinetics of ataluren and its interaction potentia
Externí odkaz:
https://doaj.org/article/eec39a36fe20492083ddc177954b3161
Publikováno v:
Journal of Molecular Medicine. 100:1223-1235
Abstarct Suppressing translation termination at premature termination codons (PTCs), termed readthrough, is a potential therapy for genetic diseases caused by nonsense mutations. Ataluren is a compound that has shown promise for clinical use as a rea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4475bb0d2e398c442c90526d46692d62
https://doi.org/10.1007/s00109-022-02232-0
https://doi.org/10.1007/s00109-022-02232-0