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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Bibliografiske detaljer
Udgivet i: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
Format: Artigo
Sprog:Inglês
Udgivet: Oxford University Press 2021
Fag:
General Article
Online adgang: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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