Zobrazeno 1 - 10
of 2 587
pro vyhledávání: '"J A Berglund"'
Autor:
Emily E. Davey, Cécilia Légaré, Lori Planco, Sharon Shaughnessy, Claudia D. Lennon, Marie-Pier Roussel, Hannah K. Shorrock, Man Hung, John Douglas Cleary, Elise Duchesne, J. Andrew Berglund
Publikováno v:
JCI Insight, Vol 8, Iss 14 (2023)
Myotonic dystrophy type 1 (DM1), the most common form of adult-onset muscular dystrophy, is caused by a CTG expansion resulting in significant transcriptomic dysregulation that leads to muscle weakness and wasting. While strength training is clinical
Externí odkaz:
https://doaj.org/article/d641442504a74f18b3344b7cb793d359
CCG•CGG interruptions in high‐penetrance SCA8 families increase RAN translation and protein toxicity
Autor:
Barbara A Perez, Hannah K Shorrock, Monica Banez‐Coronel, Tao Zu, Lisa EL Romano, Lauren A Laboissonniere, Tammy Reid, Yoshio Ikeda, Kaalak Reddy, Christopher M Gomez, Thomas Bird, Tetsuo Ashizawa, Lawrence J Schut, Alfredo Brusco, J Andrew Berglund, Lis F Hasholt, Jorgen E Nielsen, SH Subramony, Laura PW Ranum
Publikováno v:
EMBO Molecular Medicine, Vol 13, Iss 11, Pp 1-15 (2021)
Abstract Spinocerebellar ataxia type 8 (SCA8), a dominantly inherited neurodegenerative disorder caused by a CTG•CAG expansion, is unusual because most individuals that carry the mutation do not develop ataxia. To understand the variable penetrance
Externí odkaz:
https://doaj.org/article/33aca9ac8dc84150a7d6116bee01440f
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:
Melissa N. Hinman, Jared I. Richardson, Rose A. Sockol, Eliza D. Aronson, Sarah J. Stednitz, Katrina N. Murray, J. Andrew Berglund, Karen Guillemin
Publikováno v:
Disease Models & Mechanisms, Vol 14, Iss 6 (2021)
The muscleblind RNA-binding proteins (MBNL1, MBNL2 and MBNL3) are highly conserved across vertebrates and are important regulators of RNA alternative splicing. Loss of MBNL protein function through sequestration by CUG or CCUG RNA repeats is largely
Externí odkaz:
https://doaj.org/article/6f0a3d28e4c9477a8019cab6074dcf0b
Autor:
Jacob H Schroader, Lindsey A Jones, Ryan Meng, Hannah K Shorrock, Jared I Richardson, Sharon M Shaughnessy, Qishan Lin, Thomas J Begley, J Andrew Berglund, Gabriele Fuchs, Mark T Handley, Kaalak Reddy
Publikováno v:
Nucleic Acids Research. 50:9306-9318
Failure to prevent accumulation of the non-canonical nucleotide inosine triphosphate (ITP) by inosine triphosphate pyrophosphatase (ITPase) during nucleotide synthesis results in misincorporation of inosine into RNA and can cause severe and fatal dev
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f69d13c9e3db59182adfdb4ee340b9f0
https://doi.org/10.1093/nar/gkac709
https://doi.org/10.1093/nar/gkac709
Akademický článek
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Autor:
Subodh K. Mishra, Sawyer M. Hicks, Jesus A. Frias, Sweta Vangaveti, Masayuki Nakamori, John D. Cleary, Kaalak Reddy, J. Andrew Berglund
Myotonic dystrophy is a multisystemic neuromuscular disease caused by either a CTG repeat expansion inDMPK(DM1) or a CCTG repeat expansion inCNBP(DM2). Transcription of the expanded alleles produces toxic gain-of-function RNA that sequester the MBNL
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0a3c829ed7e0874e8d64b3c410b07c0b
https://doi.org/10.1101/2023.02.02.526846
https://doi.org/10.1101/2023.02.02.526846
Autor:
Ruth B. Siboni, Masayuki Nakamori, Stacey D. Wagner, Adam J. Struck, Leslie A. Coonrod, Shanee A. Harriott, Daniel M. Cass, Matthew K. Tanner, J. Andrew Berglund
Publikováno v:
Cell Reports, Vol 13, Iss 11, Pp 2386-2394 (2015)
Myotonic dystrophy type 1 (DM1) is an inherited disease characterized by the inability to relax contracted muscles. Affected individuals carry large CTG expansions that are toxic when transcribed. One possible treatment approach is to reduce or elimi
Externí odkaz:
https://doaj.org/article/1f8ace6435d14c4ab3424c4f8b318fd6
Autor:
Gaston Bonenfant, Ryan Meng, Carl Shotwell, Pheonah Badu, Anne F. Payne, Alexander T. Ciota, Morgan A. Sammons, J. Andrew Berglund, Cara T. Pager
Publikováno v:
Viruses, Vol 12, Iss 5, p 510 (2020)
The alternative splicing of pre-mRNAs expands a single genetic blueprint to encode multiple, functionally diverse protein isoforms. Viruses have previously been shown to interact with, depend on, and alter host splicing machinery. The consequences, h
Externí odkaz:
https://doaj.org/article/fba3d00ad8a6409c9118c97805b5cf00