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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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Hum Mol Genet
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Oxford University Press 2021
Pynciau:
General Article
Mynediad Ar-lein: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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