Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Ramee Lee"'
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:
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:
Cristina Cariulo, Paola Martufi, Margherita Verani, Leticia Toledo-Sherman, Ramee Lee, Celia Dominguez, Lara Petricca, Andrea Caricasole
N-terminal phosphorylation at residues T3 and S13 is believed to have important beneficial implications for the biological and pathological properties of mutant huntingtin, where IKBKB was identified as a candidate regulator of huntingtin N-terminal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3d13f72186139ace7ba098b3f77b0935
https://doi.org/10.1101/2022.12.05.519070
https://doi.org/10.1101/2022.12.05.519070
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
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
Huntington’s disease (HD) is a neurodegerative 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-pro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::75f61108ea8aca833c9e8e65fabbf556
https://doi.org/10.1101/2022.05.04.490694
https://doi.org/10.1101/2022.05.04.490694
Autor:
Vanessa C. Wheeler, Ramee Lee, Marina Kovalenko, Kyung Hee Kim, Ricardo Mouro Pinto, Ihn Sik Seong, Tammy Gillis, Marissa A Andrew, Marcy E. MacDonald, Seung Kwak, James F. Gusella, Jacob M. Loupe, Jayalakshmi S. Mysore, Ryan Murtha, Jong-Min Lee, David Howland
Publikováno v:
Human Molecular Genetics
Recent genome-wide association studies of age-at-onset in Huntington’s disease (HD) point to distinct modes of potential disease modification: altering the rate of somatic expansion of the HTT CAG repeat or altering the resulting CAG threshold leng
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1895734a9be14537a115e5e35ca4479
https://doi.org/10.1093/hmg/ddaa196
https://doi.org/10.1093/hmg/ddaa196
Autor:
Margherita Verani, Paola Martufi, Celia Dominguez, Ramee Lee, Lara Petricca, Raffaele Ingenito, Cristina Cariulo, Daniel J. Lavery, Marco Finotto, Leticia Toledo-Sherman, Sean M. DeGuire, Andrea Caricasole, Thomas F. Vogt, Elizabeth M. Doherty, Hilal A. Lashuel
Publikováno v:
Biochemical and Biophysical Research Communications. 521:549-554
Huntington's disease (HD) is a progressive neurodegenerative disorder caused by an expansion of a CAG triplet repeat (encoding for a polyglutamine tract) within the first exon of the huntingtin gene. Expression of the mutant huntingtin (mHTT) protein
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::708a06a05dc236486abebc8e82acb464
https://doi.org/10.1016/j.bbrc.2019.09.097
https://doi.org/10.1016/j.bbrc.2019.09.097
Autor:
John C. Obenauer, Jian Chen, Viktoria Andreeva, Jeffrey S. Aaronson, Ramee Lee, Andrea Caricasole, Jim Rosinski
Huntington’s disease is caused by expanded trinucleotide repeats in the huntingtin gene (HTT), and a higher number of repeats is associated with an earlier age of disease onset. Although the causative gene has been identified, its connections to th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::afd971336ff8b7e66cb852107cc0e68e
https://doi.org/10.1101/2022.02.04.479180
https://doi.org/10.1101/2022.02.04.479180
Autor:
Marcy E. MacDonald, Jeffrey D. Long, Jongmin Lee, Michael J. Chao, Peter Holmans, Tammy Gillis, Jayalakshmi S. Mysore, Jacob M. Loupe, Michael Orth, Lesley Jones, Darren G. Monckton, Kyung Hee Kim, Jun-Wan Shin, Eun Pyo Hong, Seung Kwak, James F. Gusella, Ramee Lee
Publikováno v:
Am J Hum Genet
A recent genome-wide association study of Huntington’s disease (HD) implicated genes involved in DNA \ud maintenance processes as modifiers of onset, including multiple genome-wide significant signals in a chr15 \ud region containing the DNA repair
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6d80a57a1a1ec986be0b057852168a0
https://orca.cardiff.ac.uk/id/eprint/131840/1/FAN1.AJHG.accepted.version.pdf
https://orca.cardiff.ac.uk/id/eprint/131840/1/FAN1.AJHG.accepted.version.pdf
Autor:
Hyeongseok Lee, Ramee Lee, Gwen E. Owens, Roy Jung, Seung Kwak, Ihn Sik Seong, Baehyun Shin, Ji-Joon Song, Jong-Min Lee, Hye Jin Oh, Susan L. Cotman, Ravi Vijayvargia, Marcy E. MacDonald
Publikováno v:
Molecular Therapy. Nucleic Acids
Molecular Therapy: Nucleic Acids, Vol 11, Iss C, Pp 416-428 (2018)
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://explore.openaire.eu/search/publication?articleId=doi_dedup___::d68c5b31b7f4550fb4cb1b699dcf643d
https://doi.org/10.1016/j.omtn.2018.03.008
https://doi.org/10.1016/j.omtn.2018.03.008