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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...
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Publicado no: | J Exp Med |
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Main Authors: | , , , , , , , , |
Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
The Rockefeller University Press
2017
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Assuntos: | |
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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