Mutations causing Lopes-Maciel-Rodan syndrome are huntingtin hypomorphs

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 huntingtin’s normal activities to the gain-of-function m...

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Foilsithe in:Hum Mol Genet
Main Authors: Jung, Roy, Lee, Yejin, Barker, Douglas, Correia, Kevin, Shin, Baehyun, Loupe, Jacob, Collins, Ryan L, Lucente, Diane, Ruliera, Jayla, Gillis, Tammy, Mysore, Jayalakshmi S, Rodan, Lance, Picker, Jonathan, Lee, Jong-Min, Howland, David, Lee, Ramee, Kwak, Seung, MacDonald, Marcy E, Gusella, James F, Seong, Ihn Sik
Formáid: Artigo
Teanga:Inglês
Foilsithe: Oxford University Press 2021
Ábhair:
General Article
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC8248964/
https://ncbi.nlm.nih.gov/pubmed/33432339
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddaa283
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