Zobrazeno 1 - 10
of 108
pro vyhledávání: '"Seung Kwak"'
DNA methylation study of Huntington’s disease and motor progression in patients and in animal models
Autor:
Ake T. Lu, Pritika Narayan, Matthew J. Grant, Peter Langfelder, Nan Wang, Seung Kwak, Hilary Wilkinson, Richard Z. Chen, Jian Chen, C. Simon Bawden, Skye R. Rudiger, Marc Ciosi, Afroditi Chatzi, Alastair Maxwell, Timothy A. Hore, Jeff Aaronson, Jim Rosinski, Alicia Preiss, Thomas F. Vogt, Giovanni Coppola, Darren Monckton, Russell G. Snell, X. William Yang, Steve Horvath
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-15 (2020)
Although Huntington’s disease (HD) is a well-studied genetic disorder, less is known about the epigenetic changes underlying it. Here, the authors characterize DNA methylation levels in tissues from patients, a mouse huntingtin (Htt) gene knock-in
Externí odkaz:
https://doaj.org/article/9415f3c0bb6441ffad6d13aeb09b8ee8
Autor:
Marc Ciosi, Alastair Maxwell, Sarah A. Cumming, Davina J. Hensman Moss, Asma M. Alshammari, Michael D. Flower, Alexandra Durr, Blair R. Leavitt, Raymund A.C. Roos, Peter Holmans, Lesley Jones, Douglas R. Langbehn, Seung Kwak, Sarah J. Tabrizi, Darren G. Monckton
Publikováno v:
EBioMedicine, Vol 48, Iss , Pp 568-580 (2019)
Background: Huntington disease (HD) is caused by an unstable CAG/CAA repeat expansion encoding a toxic polyglutamine tract. Here, we tested the hypotheses that HD outcomes are impacted by somatic expansion of, and polymorphisms within, the HTT CAG/CA
Externí odkaz:
https://doaj.org/article/e8c098c00c394408a8d5c2c5d49ab489
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:
Mahalakshmi Shankaran, Eleonora Di Paolo, Valerio Leoni, Claudio Caccia, Costanza Ferrari Bardile, Hussein Mohammed, Stefano Di Donato, Seung Kwak, Deanna Marchionini, Scott Turner, Elena Cattaneo, Marta Valenza
Publikováno v:
Neurobiology of Disease, Vol 98, Iss , Pp 66-76 (2017)
Cholesterol precursors and cholesterol levels are reduced in brain regions of Huntington's disease (HD) mice. Here we quantified the rate of in vivo de novo cholesterol biosynthesis in the HD brain. Samples from different brain regions and blood of t
Externí odkaz:
https://doaj.org/article/c0d37c93e4704693a5dced6666ed9de7
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:
Peter Langfelder, Fuying Gao, Nan Wang, David Howland, Seung Kwak, Thomas F Vogt, Jeffrey S Aaronson, Jim Rosinski, Giovanni Coppola, Steve Horvath, X William Yang
Publikováno v:
PLoS ONE, Vol 13, Iss 1, p e0190550 (2018)
In Huntington's disease (HD) patients and in model organisms, messenger RNA transcriptome has been extensively studied; in contrast, comparatively little is known about expression and potential role of microRNAs. Using RNA-sequencing, we have quantif
Externí odkaz:
https://doaj.org/article/b8777b2d13824572b2030ef761c7666a
Autor:
Jeffrey B Carroll, Amy Deik, Elisa Fossale, Rory M Weston, Jolene R Guide, Jamshid Arjomand, Seung Kwak, Clary B Clish, Marcy E MacDonald
Publikováno v:
PLoS ONE, Vol 10, Iss 8, p e0134465 (2015)
The HTT CAG expansion mutation causes Huntington's Disease and is associated with a wide range of cellular consequences, including altered metabolism. The mutant allele is expressed widely, in all tissues, but the striatum and cortex are especially v
Externí odkaz:
https://doaj.org/article/a8690f7be1554d12945d9a4d73f05bec
Autor:
Nikisha Carty, Nadège Berson, Karsten Tillack, Christina Thiede, Diana Scholz, Karsten Kottig, Yalda Sedaghat, Christina Gabrysiak, George Yohrling, Heinz von der Kammer, Andreas Ebneth, Volker Mack, Ignacio Munoz-Sanjuan, Seung Kwak
Publikováno v:
PLoS ONE, Vol 10, Iss 4, p e0123527 (2015)
Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder caused by a CAG trinucleotide repeat expansion in the huntingtin gene. Major pathological hallmarks of HD include inclusions of mutant huntingtin (mHTT) protein, loss of ne
Externí odkaz:
https://doaj.org/article/4aa04b67124f4f039732a83a0dacb17e
Autor:
Erika L.F. Holzbaur, David S. Howland, Nicholas Weber, Karen Wallace, Yijin She, Seung Kwak, Lioudmilla A. Tchistiakova, Erin Murphy, Joseph Hinson, Riyez Karim, Xiang Yang Tan, Pamela Kelley, Kevin C. McGill, Gareth Williams, Carl Hobbs, Patrick Doherty, Margaret M. Zaleska, Menelas N. Pangalos, Frank S. Walsh
Publikováno v:
Neurobiology of Disease, Vol 23, Iss 3, Pp 697-707 (2006)
Amyotrophic lateral sclerosis (ALS) is an incurable neurodegenerative disease leading to motor neuron cell death, but recent studies suggest that non-neuronal cells may contribute to the pathological mechanisms involved. Myostatin is a negative regul
Externí odkaz:
https://doaj.org/article/5385387f225b4c7896070fef0238ab72
Autor:
Kyung-Hee Kim, Eun Pyo Hong, Yukyeong Lee, McLean, Zachariah L., Elezi, Emanuela, Lee, Ramee, Seung Kwak, McAllister, Branduff, Massey, Thomas H., Lobanov, Sergey, Holmans, Peter, Orth, Michael, Ciosi, Marc, Monckton, Darren G., Long, Jeffrey D., Lucente, Diane, Wheeler, Vanessa C., MacDonald, Marcy E., Gusella, James F., Jong-Min Lee
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America; 4/16/2024, Vol. 121 Issue 16, p1-9, 18p