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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Dettagli Bibliografici
Pubblicato in:Hum Mol Genet
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Oxford University Press 2021
Soggetti:
General Article
Accesso online: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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