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...

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Detalhes bibliográficos
Publicado no:J Exp Med
Main Authors: Chang, Michael C., Srinivasan, Karpagam, Friedman, Brad A., Suto, Eric, Modrusan, Zora, Lee, Wyne P., Kaminker, Joshua S., Hansen, David V., Sheng, Morgan
Formato: Artigo
Idioma:Inglês
Publicado em: The Rockefeller University Press 2017
Assuntos:
Research Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5584112/
https://ncbi.nlm.nih.gov/pubmed/28778989
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1084/jem.20160999
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