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Progranulin deficiency causes impairment of autophagy and TDP-43 accumulation
Loss-of-function mutations in GRN cause frontotemporal dementia (FTD) with transactive response DNA-binding protein of 43 kD (TDP-43)–positive inclusions and neuronal ceroid lipofuscinosis (NCL). There are no disease-modifying therapies for either FTD or NCL, in part because of a poor understanding...
Autores principales: | Chang, Michael C., Srinivasan, Karpagam, Friedman, Brad A., Suto, Eric, Modrusan, Zora, Lee, Wyne P., Kaminker, Joshua S., Hansen, David V., Sheng, Morgan |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Rockefeller University Press
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5584112/ https://www.ncbi.nlm.nih.gov/pubmed/28778989 http://dx.doi.org/10.1084/jem.20160999 |
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