Misregulation of human sortilin splicing leads to the generation of a nonfunctional progranulin receptor

Sortilin 1 regulates the levels of brain progranulin (PGRN), a neurotrophic growth factor that, when deficient, is linked to cases of frontotemporal lobar degeneration with TAR DNA-binding protein-43 (TDP-43)–positive inclusions (FTLD-TDP). We identified a specific splicing enhancer element that reg...

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Bibliografiska uppgifter
Huvudupphovsmän: Prudencio, Mercedes, Jansen-West, Karen R., Lee, Wing C., Gendron, Tania F., Zhang, Yong-Jie, Xu, Ya-Fei, Gass, Jennifer, Stuani, Cristiana, Stetler, Caroline, Rademakers, Rosa, Dickson, Dennis W., Buratti, Emanuele, Petrucelli, Leonard
Materialtyp: Artigo
Språk:Inglês
Publicerad: National Academy of Sciences 2012
Ämnen:
Biological Sciences
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC3535614/
https://ncbi.nlm.nih.gov/pubmed/23236149
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1211577110
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