Targeted manipulation of the sortilin–progranulin axis rescues progranulin haploinsufficiency

Progranulin (GRN) mutations causing haploinsufficiency are a major cause of frontotemporal lobar degeneration (FTLD-TDP). Recent discoveries demonstrating sortilin (SORT1) is a neuronal receptor for PGRN endocytosis and a determinant of plasma PGRN levels portend the development of enhancers targeti...

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Autors principals: Lee, Wing C., Almeida, Sandra, Prudencio, Mercedes, Caulfield, Thomas R., Zhang, Yong-Jie, Tay, William M., Bauer, Peter O., Chew, Jeannie, Sasaguri, Hiroki, Jansen-West, Karen R., Gendron, Tania F., Stetler, Caroline T., Finch, NiCole, Mackenzie, Ian R., Rademakers, Rosa, Gao, Fen-Biao, Petrucelli, Leonard
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2014
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Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3929086/
https://ncbi.nlm.nih.gov/pubmed/24163244
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddt534
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