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FTLD-U linked missense mutations in the progranulin gene reduce progranulin production and secretion.

Sunita S Shankaran et al.

J Biol Chem, (05 Nov 2007)

info:pmid/17984093 | info:doi/10.1074/jbc.M705115200

Posted by akraeutl1 to Shankaran Capell Hruscha Fellerer progranulin tau-negative frontotemporal lobar hyperphosphorylated ubiquitinated nuclei nonsense mutations protein levels PGRN A9D missorting PGRN P248L R432C human cell lines C-terminal fragments proteolytic processing Schmid Haass TDP-43 cellular mechanisms neumann immature degraded secretory pathway Loss of Function Cytoplasm C-terminal downregulate protein expression signal sequence Mutations ubiquitin expression secretion degeneration zebrafish human mRNA on Sat Jan 05 2008 at 21:19 UTC | info | related

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