Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Crystal N Doty"'
Autor:
Niels H Skotte, Amber L Southwell, Michael E Østergaard, Jeffrey B Carroll, Simon C Warby, Crystal N Doty, Eugenia Petoukhov, Kuljeet Vaid, Holly Kordasiewicz, Andrew T Watt, Susan M Freier, Gene Hung, Punit P Seth, C Frank Bennett, Eric E Swayze, Michael R Hayden
Publikováno v:
PLoS ONE, Vol 9, Iss 9, p e107434 (2014)
Huntington disease (HD) is an inherited, fatal neurodegenerative disorder caused by a CAG repeat expansion in the huntingtin gene. The mutant protein causes neuronal dysfunction and degeneration resulting in motor dysfunction, cognitive decline, and
Externí odkaz:
https://doaj.org/article/df087f84149f4dfba0bfc4bdc1b0f552
Autor:
Amber L. Southwell, Hailey Findlay-Black, Yuanyun Xie, Bethany Fitsimmons, Michael E. Østergaard, C. Frank Bennett, Niels H. Skotte, Louisa Dal Cengio, Punit P. Seth, Crystal N. Doty, Michael R. Hayden, Erika B. Villanueva, Douglas R. Langbehn, Lynn A. Raymond, Lisa M. Anderson, Holly B. Kordasiewicz, Eric E. Swayze, Matthew P. Parsons, Nicholas S. Caron
Publikováno v:
Science Translational Medicine. 10
Huntington disease (HD) is an autosomal dominant neurodegenerative disorder caused by a mutation in the huntingtin (HTT) protein, resulting in acquisition of toxic functions. Previous studies have shown that lowering mutant HTT has the potential to b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7234a2400b48305341d35ff493f065e4
https://doi.org/10.1126/scitranslmed.aar3959
https://doi.org/10.1126/scitranslmed.aar3959
Autor:
Crystal N. Doty, Chris Kay, Ferdinando Squitieri, Niels H. Skotte, Michael R. Hayden, Colin J. D. Ross, Annamaria Griguoli, Betty Nguyen, Nicholas S. Caron, Simon C. Warby, Jennifer A. Collins, Amber L. Southwell
Publikováno v:
Molecular Therapy. 23:1759-1771
Huntington disease (HD) is a dominant neurodegenerative disorder caused by a CAG repeat expansion in the Huntingtin gene (HTT). Heterozygous polymorphisms in cis with the mutation allow for allele-specific suppression of the pathogenic HTT transcript
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c77c21f0428df431fed1d42da3aab913
https://doi.org/10.1038/mt.2015.128
https://doi.org/10.1038/mt.2015.128
Autor:
Holly Kordasiewicz, Michael R. Hayden, Clarence Frank Bennett, Crystal N. Doty, Erika B. Villanueva, Punit P. Seth, Kuljeet Vaid, Susan M. Freier, Niels H. Skotte, Eugenia Petoukhov, Amber L. Southwell, Jeffrey B. Carroll, Michael E. Østergaard, Eric E. Swayze, Andrew T. Watt, Yuanyun Xie
Publikováno v:
Molecular Therapy. 22:2093-2106
Huntington disease (HD) is a dominant, genetic neurodegenerative disease characterized by progressive loss of voluntary motor control, psychiatric disturbance, and cognitive decline, for which there is currently no disease-modifying therapy. HD is ca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11c5894b01f5d4fee6755f2bee232356
https://doi.org/10.1038/mt.2014.153
https://doi.org/10.1038/mt.2014.153
Autor:
Chris Kay, Fiona Baine, Maria Ketelaar, Michael R. Hayden, Crystal N. Doty, Jennifer A. Collins, Alicia Semaka, Amanda Krause, L. Jacquie Greenberg
Publikováno v:
European Journal of Human Genetics, 21(10), 1120-1127. Nature Publishing Group
Huntington disease (HD) is a neurodegenerative disorder resulting from the expansion of a CAG trinucleotide repeat in the huntingtin (HTT) gene. Worldwide prevalence varies geographically with the highest figures reported in populations of European a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cdbfbd444484b3797e214417b31391fb
https://doi.org/10.1038/ejhg.2013.2
https://doi.org/10.1038/ejhg.2013.2
Autor:
Amber L. Southwell, Katherine K. N. Mui, Crystal N. Doty, Liza M. Sutton, Fiona B. Young, Michael R. Hayden, Shaun S. Sanders, Weining Zhang, Sonia Franciosi, Roshni R. Singaraja, Vlad Kovalik, Mandi E. Schmidt, Stefanie L. Butland
Publikováno v:
Human Molecular Genetics. 22:452-465
Palmitoylation, the dynamic post-translational addition of the lipid, palmitate, to proteins by Asp-His-His-Cys-containing palmitoyl acyltransferase (PAT) enzymes, modulates protein function and localization and plays a key role in the nervous system
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa2b51de409bad8836f93c7eca3e2361
https://doi.org/10.1093/hmg/dds441
https://doi.org/10.1093/hmg/dds441
Autor:
Michael R. Hayden, X. William Yang, Erika B. Villanueva, Niels H. Skotte, Crystal N. Doty, Amber L. Southwell, Jeffrey B. Carroll, Vlad Kovalik, Sonia Franciosi, Weining Zhang, Mahmoud A. Pouladi, Jennifer A. Collins, Simon C. Warby, Yuanyun Xie
Publikováno v:
Human Molecular Genetics. 22:18-34
Silencing the mutant huntingtin gene (muHTT) is a direct and simple therapeutic strategy for the treatment of Huntington disease (HD) in principle. However, targeting the HD mutation presents challenges because it is an expansion of a common genetic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef1b299ddb98f5fe7f29092cae6621d9
https://doi.org/10.1093/hmg/dds397
https://doi.org/10.1093/hmg/dds397
Autor:
Kun Huang, Roshni R. Singaraja, Crystal N. Doty, Junmei Wan, Michael R. Hayden, Nagat Bissada, Sonia Franciosi, R. Mark Henkelman, Shaun S. Sanders, Nicholas G. Davis, Renaldo C. Drisdel, Fiona B. Young, Jason P. Lerch, Kuljeet Vaid, Lynn A. Raymond, Rochelle M. Hines, William N. Green, Austen J. Milnerwood
Publikováno v:
Human Molecular Genetics. 20:3899-3909
Huntingtin interacting protein 14 (HIP14, ZDHHC17) is a huntingtin (HTT) interacting protein with palmitoyl transferase activity. In order to interrogate the function of Hip14, we generated mice with disruption in their Hip14 gene. Hip14-/- mice disp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2eb4500e3eb9b4f07ce06518d74c7530
https://doi.org/10.1093/hmg/ddr308
https://doi.org/10.1093/hmg/ddr308
Autor:
Anna Hayden, Michael R. Hayden, Crystal N. Doty, Stefanie L. Butland, Ichiro Kanazawa, Colin J. D. Ross, Catherine Carter, Simon C. Warby, Henk Visscher, Jennifer A. Collins
Publikováno v:
European Journal of Human Genetics. 19:561-566
Huntington disease (HD) results from CAG expansion in the huntingtin (HTT) gene. Although HD occurs worldwide, there are large geographic differences in its prevalence. The prevalence in populations derived from Europe is 10–100 times greater than
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::366df724cfc157a7c1a943f17b6af077
https://doi.org/10.1038/ejhg.2010.229
https://doi.org/10.1038/ejhg.2010.229
Autor:
Roshni R. Singaraja, Michael R. Hayden, Crystal N. Doty, Rona K. Graham, Simon C. Warby, Jonathan Shively
Publikováno v:
Molecular and Cellular Neuroscience. 40:121-127
Huntingtin is phosphorylated on serine-421 (S421) by the pro-survival signaling protein kinases Akt and SGK. Phosphorylation of huntingtin at S421 is variable in different regions of the brain with the lowest levels observed in the striatum, which is
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee01011a85f1abfbd6b50d5a8ff95770
https://doi.org/10.1016/j.mcn.2008.09.007
https://doi.org/10.1016/j.mcn.2008.09.007