Pathogenic Cysteine Mutations Affect Progranulin Function and Production of Mature Granulins

Frontotemporal dementia with ubiquitin-positive inclusions (FTLD-U) can be caused by mutations in the progranulin gene (GRN). Progranulin (PGRN) is a cysteine-rich growth factor, which is proteolytically cleaved by elastase to produce several granulins (GRNs). All FTLD-U mutations in GRN characteriz...

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Hoofdauteurs: Wang, Jun, Van Damme, Philip, Cruchaga, Carlos, Gitcho, Michael A., Vidal, Jose Manuel, Seijo-Martínez, Manuel, Wang, Lei, Wu, Jane Y., Robberecht, Wim, Goate, Alison
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2009
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Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2819556/
https://ncbi.nlm.nih.gov/pubmed/20028451
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1471-4159.2009.06546.x
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