Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Jana R. Jenquin"'
Autor:
Jana R. Jenquin, Alana P. O’Brien, Kiril Poukalov, Yidan Lu, Jesus A. Frias, Hannah K. Shorrock, Jared I. Richardson, Hormoz Mazdiyasni, Hongfen Yang, Robert W. Huigens, III, David Boykin, Laura P.W. Ranum, John Douglas Cleary, Eric T. Wang, J. Andrew Berglund
Publikováno v:
iScience, Vol 25, Iss 5, Pp 104198- (2022)
Summary: Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are common forms of adult onset muscular dystrophy. Pathogenesis in both diseases is largely driven by production of toxic-expanded repeat RNAs that sequester MBNL RNA-binding proteins, causin
Externí odkaz:
https://doaj.org/article/58816a4f83314c1bbc07ac1339b064d0
Autor:
Kaalak Reddy, Jana R. Jenquin, J. Andrew Berglund, Maja C Haerle, Eric T. Wang, Jared I Richardson, Belinda S. Pinto, Lori Planco, John D. Cleary, Ona L. McConnell, Masayuki Nakamori, Elizabeth Delgado
Publikováno v:
Proceedings of the National Academy of Sciences. 116:20991-21000
A CTG repeat expansion in the DMPK gene is the causative mutation of myotonic dystrophy type 1 (DM1). Transcription of the expanded CTG repeat produces toxic gain-of-function CUG RNA, leading to disease symptoms. A screening platform that targets pro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c90034b385d59f4be2d3161ceb530b19
https://doi.org/10.1073/pnas.1901893116
https://doi.org/10.1073/pnas.1901893116
Publikováno v:
ACS Pharmacology & Translational Science. 2:247-263
Myotonic dystrophy type 1 (DM1) is a multi-systemic disease that presents with clinical symptoms including myotonia, cardiac dysfunction and cognitive impairment. DM1 is caused by a CTG expansion in the 3’ UTR of the DMPK gene. The transcribed expa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99b354dac00914c8a9e6bab2650c3520
https://doi.org/10.1021/acsptsci.9b00020
https://doi.org/10.1021/acsptsci.9b00020
Autor:
Jana R. Jenquin, Alana P. O’Brien, Kiril Poukalov, Yidan Lu, Jesus A. Frias, Hannah K. Shorrock, Jared I. Richardson, Hormoz Mazdiyasni, Hongfen Yang, Robert W. Huigens, David Boykin, Laura P.W. Ranum, John Douglas Cleary, Eric T. Wang, J. Andrew Berglund
Publikováno v:
iScience. 25(5)
Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are common forms of adult onset muscular dystrophy. Pathogenesis in both diseases is largely driven by production of toxic-expanded repeat RNAs that sequester MBNL RNA-binding proteins, causing mis-spl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5fcddfbeebd7b3d90ac640eb9f752a9a
https://pubmed.ncbi.nlm.nih.gov/35479399
https://pubmed.ncbi.nlm.nih.gov/35479399
Publikováno v:
International Journal of Molecular Sciences
International Journal of Molecular Sciences, Vol 20, Iss 16, p 4017 (2019)
International Journal of Molecular Sciences, Vol 20, Iss 16, p 4017 (2019)
This review, one in a series on myotonic dystrophy (DM), is focused on the development and potential use of small molecules as therapeutics for DM. The complex mechanisms and pathogenesis of DM are covered in the associated reviews. Here, we examine
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f1e86effe0149b77d340605efb23774
http://europepmc.org/articles/PMC6720693
http://europepmc.org/articles/PMC6720693