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Autosomal dominant VCP hypomorph mutation impairs disaggregation of PHF-tau

Neurodegeneration in Alzheimer’s disease (AD) is closely associated with accumulation of pathologic tau aggregates in the form of neurofibrillary tangles. We found that a p.Asp395Gly mutation in VCP was associated with dementia characterized neuropathologically by neuronal vacuoles and neurofibrilla...

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Detalhes bibliográficos
Publicado no:Science
Main Authors: Darwich, Nabil F., Phan, Jessica M., Kim, Boram, Suh, EunRan, Papatriantafyllou, John D., Changolkar, Lakshmi, Nguyen, Aivi T., O’Rourke, Caroline M., He, Zhuohao, Porta, Sílvia, Gibbons, Garrett S., Luk, Kelvin C., Papageorgiou, Sokratis G., Grossman, Murray, Massimo, Lauren, Irwin, David J., McMillan, Corey T., Nasrallah, Ilya M., Toro, Camilo, Aguirre, Geoffrey K., Van Deerlin, Vivianna M., Lee, Edward B.
Formato: Artigo
Idioma:Inglês
Publicado em: 2020
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7818661/
https://ncbi.nlm.nih.gov/pubmed/33004675
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1126/science.aay8826
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