Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Brenda Lager"'
Autor:
Deanna M. Marchionini, Jeh-Ping Liu, Alberto Ambesi-Impiombato, Kimberly Kerker, Kim Cirillo, Mukesh Bansal, Rich Mushlin, Daniela Brunner, Sylvie Ramboz, Mei Kwan, Kirsten Kuhlbrodt, Karsten Tillack, Finn Peters, Leena Rauhala, John Obenauer, Jonathan R. Greene, Christopher Hartl, Vinod Khetarpal, Brenda Lager, Jim Rosinski, Jeff Aaronson, Morshed Alam, Ethan Signer, Ignacio Muñoz-Sanjuán, David Howland, Scott O. Zeitlin
Publikováno v:
JCI Insight, Vol 7, Iss 20 (2022)
We have developed an inducible Huntington’s disease (HD) mouse model that allows temporal control of whole-body allele-specific mutant huntingtin (mHtt) expression. We asked whether moderate global lowering of mHtt (~50%) was sufficient for long-te
Externí odkaz:
https://doaj.org/article/134f08ad54bc41838bc7ff1320c3e0ea
Autor:
Tammy Gillis, João Luís Neto, Isabel Alonso, Vanessa C. Wheeler, Ali Afridi, Jong-Min Lee, Jolene R. Guide, Ricardo Mouro Pinto, Brenda Lager, Stephani Dempsey
Publikováno v:
Genetics
Huntington’s disease (HD) is a neurodegenerative disorder caused by the expansion of a CAG trinucleotide repeat in exon 1 of the HTT gene. Longer repeat sizes are associated with increased disease penetrance and earlier ages of onset. Intergenerati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b496fd7d723833d36310c82631aaa4b
http://europepmc.org/articles/PMC5289832
http://europepmc.org/articles/PMC5289832
Autor:
Igor Filipov, Vanessa C. Wheeler, Matthew J. Mazzella, Liliana B. Menalled, Melinda C Ruiz, Ana Sanchez, Sylvie Ramboz, Brenda Lager, Marcy E. MacDonald, Ian Russell, Kimberly Cox, Miguel A. Gomez, Afshin Ghavami, Vadim Alexandrov, Seung Kwak, Dani Brunner, Justin Torello, Jeff Aaronson, Mei Kwan, Andrea E. Kudwa, James F. Gusella, Judy Watson-Johnson, Jim Rosinski, David Howland, Emily Sabath
Publikováno v:
Nature Biotechnology. 34:838-844
Rapid technological advances for the frequent monitoring of health parameters have raised the intriguing possibility that an individual's genotype could be predicted from phenotypic data alone. Here we used a machine learning approach to analyze the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5de02ee20c5bcd7e158385f5185a6ccd
https://doi.org/10.1038/nbt.3587
https://doi.org/10.1038/nbt.3587
Autor:
Akilah Bonner, Karen Ring, Jennifer Holcomb, Ningzhe Zhang, Robert O’Brien, Khan Zafar, Lisa M. Ellerby, Andreas Weiss, Bradford W. Gibson, Sylvia F. Chen, Brenda Lager, Francesco DeGiacomo, Seung Kwak, Birgit Schilling
Publikováno v:
Journal of Biological Chemistry. 290:19287-19306
The cascade of events that lead to cognitive decline, motor deficits, and psychiatric symptoms in patients with Huntington disease (HD) is triggered by a polyglutamine expansion in the N-terminal region of the huntingtin (HTT) protein. A significant
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f51258f5897e9248ea77a222fbebf4f7
https://doi.org/10.1074/jbc.m114.623561
https://doi.org/10.1074/jbc.m114.623561
Autor:
Douglas Barker, William Tottey, David F. Fischer, Marissa A Andrew, Vanessa C. Wheeler, Christina Thiede, Kerstin Teichmann, Geraldine Flynn, Seung Kwak, Jenny Weidner, Karsten Tillack, Dani Brunner, Sylvie Ramboz, Brenda Lager, Kevin Correia, Darren G. Monckton, Liliana B. Menalled, Vadim Alexandrov, Sarah A. Cumming, James Victor Giordano, David Howland, Marina Kovalenko
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 87:A9.2-A9
Background The expanded CAG repeat in the Huntington’s disease (HD) gene HTT is the major contributor to disease onset. The repeat also expands progressively in somatic cells, particularly in medium-spiny striatal neurons. Human and mouse genetic s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0f462826413c6dda39488fb15a3312db
https://doi.org/10.1136/jnnp-2016-314597.32
https://doi.org/10.1136/jnnp-2016-314597.32