Zobrazeno 1 - 10
of 316
pro vyhledávání: '"Marcy E. MacDonald"'
Autor:
Zachariah L. McLean, Dadi Gao, Kevin Correia, Jennie C. L. Roy, Shota Shibata, Iris N. Farnum, Zoe Valdepenas-Mellor, Marina Kovalenko, Manasa Rapuru, Elisabetta Morini, Jayla Ruliera, Tammy Gillis, Diane Lucente, Benjamin P. Kleinstiver, Jong-Min Lee, Marcy E. MacDonald, Vanessa C. Wheeler, Ricardo Mouro Pinto, James F. Gusella
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-17 (2024)
Abstract Huntington’s disease (HD) is a dominant neurological disorder caused by an expanded HTT exon 1 CAG repeat that lengthens huntingtin’s polyglutamine tract. Lowering mutant huntingtin has been proposed for treating HD, but genetic modifier
Externí odkaz:
https://doaj.org/article/04c90e61e38c4922b3fb3425418eb127
Autor:
Sergey V. Lobanov, Branduff McAllister, Mia McDade-Kumar, G. Bernhard Landwehrmeyer, Michael Orth, Anne E. Rosser, REGISTRY Investigators of the European Huntington’s disease network, Jane S. Paulsen, PREDICT-HD Investigators of the Huntington Study Group, Jong-Min Lee, Marcy E. MacDonald, James F. Gusella, Jeffrey D. Long, Mina Ryten, Nigel M. Williams, Peter Holmans, Thomas H. Massey, Lesley Jones
Publikováno v:
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-9 (2022)
Abstract Huntington’s disease is caused by an expanded CAG tract in HTT. The length of the CAG tract accounts for over half the variance in age at onset of disease, and is influenced by other genetic factors, mostly implicating the DNA maintenance
Externí odkaz:
https://doaj.org/article/471abbf3af654a65a0a60f88b8f7af52
Autor:
Baehyun Shin, Roy Jung, Hyejin Oh, Gwen E. Owens, Hyeongseok Lee, Seung Kwak, Ramee Lee, Susan L. Cotman, Jong-Min Lee, Marcy E. MacDonald, Ji-Joon Song, Ravi Vijayvargia, Ihn Sik Seong
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 11, Iss C, Pp 416-428 (2018)
The CAG repeat expansion that elongates the polyglutamine tract in huntingtin is the root genetic cause of Huntington’s disease (HD), a debilitating neurodegenerative disorder. This seemingly slight change to the primary amino acid sequence alters
Externí odkaz:
https://doaj.org/article/fc7145233c5c473aaf6cd4dcf749ad7c
Autor:
Seth A Ament, Jocelynn R Pearl, Jeffrey P Cantle, Robert M Bragg, Peter J Skene, Sydney R Coffey, Dani E Bergey, Vanessa C Wheeler, Marcy E MacDonald, Nitin S Baliga, Jim Rosinski, Leroy E Hood, Jeffrey B Carroll, Nathan D Price
Publikováno v:
Molecular Systems Biology, Vol 14, Iss 3, Pp 1-16 (2018)
Abstract Transcriptional changes occur presymptomatically and throughout Huntington's disease (HD), motivating the study of transcriptional regulatory networks (TRNs) in HD. We reconstructed a genome‐scale model for the target genes of 718 transcri
Externí odkaz:
https://doaj.org/article/37a0a3de07ca4d86ab89638ff4d313a8
Autor:
Yejin Lee, Hyeongju Kim, Douglas Barker, Ravi Vijayvargia, Ranjit Singh Atwal, Harrison Specht, Hasmik Keshishian, Steven A Carr, Ramee Lee, Seung Kwak, Kyung-gi Hyun, Jacob Loupe, Marcy E MacDonald, Ji-Joon Song, Ihn Sik Seong
Publikováno v:
Human Molecular Genetics. 32:30-45
Huntington’s disease (HD) is a neurodegenerative disorder caused by an inherited unstable HTT CAG repeat that expands further, thereby eliciting a disease process that may be initiated by polyglutamine-expanded huntingtin or a short polyglutamine-p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b194f96d4acbd54d3d19354cfdd3186
https://doi.org/10.1093/hmg/ddac165
https://doi.org/10.1093/hmg/ddac165
Autor:
Vidya Murthy, Toma Tebaldi, Toshimi Yoshida, Serkan Erdin, Teresa Calzonetti, Ravi Vijayvargia, Takshashila Tripathi, Emanuela Kerschbamer, Ihn Sik Seong, Alessandro Quattrone, Michael E Talkowski, James F Gusella, Katia Georgopoulos, Marcy E MacDonald, Marta Biagioli
Publikováno v:
PLoS Genetics, Vol 15, Iss 3, p e1007765 (2019)
Rare individuals with inactivating mutations in the Huntington's disease gene (HTT) exhibit variable abnormalities that imply essential HTT roles during organ development. Here we report phenotypes produced when increasingly severe hypomorphic mutati
Externí odkaz:
https://doaj.org/article/a8a2369e6b384c22a37f9ec74a3b79d1
Publikováno v:
The American Journal of Human Genetics. 109:1338-1340
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4b50cbf350349496102b5e21d3376ad3
https://doi.org/10.1016/j.ajhg.2022.06.002
https://doi.org/10.1016/j.ajhg.2022.06.002
Autor:
Michael J Chao, Kyung-Hee Kim, Jun Wan Shin, Diane Lucente, Vanessa C Wheeler, Hong Li, Jared C Roach, Leroy Hood, Nancy S Wexler, Laura B Jardim, Peter Holmans, Lesley Jones, Michael Orth, Seung Kwak, Marcy E MacDonald, James F Gusella, Jong-Min Lee
Publikováno v:
PLoS Genetics, Vol 14, Iss 5, p e1007274 (2018)
Modifiers of Mendelian disorders can provide insights into disease mechanisms and guide therapeutic strategies. A recent genome-wide association (GWA) study discovered genetic modifiers of Huntington's disease (HD) onset in Europeans. Here, we perfor
Externí odkaz:
https://doaj.org/article/5931f4866f45429eade3b1d4c42f0e25
Autor:
Marcy E. MacDonald, Darren G. Monckton, Lesley Jones, Vanessa C. Wheeler, Michael Orth, Eun Pyo Hong, Seung Kwak, Peter Holmans, Jong-Min Lee, James F. Gusella, Jeffrey D. Long
Publikováno v:
Journal of Huntington's Disease
Historically, Huntington’s disease (HD; OMIM #143100) has played an important role in the enormous advances in human genetics seen over the past four decades. This familial neurodegenerative disorder involves variable onset followed by consistent w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4113ad8a6bbd083b7bd611f2484fbe87
http://europepmc.org/articles/PMC7990433
http://europepmc.org/articles/PMC7990433
Autor:
Roy Jung, Seung Kwak, Jonathan Picker, Tammy Gillis, Diane Lucente, Douglas Barker, Baehyun Shin, David Howland, Ramee Lee, James F. Gusella, Lance H. Rodan, Marcy E. MacDonald, Yejin Lee, Jong-Min Lee, Jayla Ruliera, Jacob M. Loupe, Ihn Sik Seong, Jayalakshmi S. Mysore, Kevin Correia, Ryan L. Collins
Publikováno v:
Hum Mol Genet
Huntington’s disease pathogenesis involves a genetic gain-of-function toxicity mechanism triggered by the expanded HTT CAG repeat. Current therapeutic efforts aim to suppress expression of total or mutant huntingtin, though the relationship of hunt
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2610e7042074e7b94a21b438c8eaf716
https://doi.org/10.1093/hmg/ddaa283
https://doi.org/10.1093/hmg/ddaa283