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Article

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

10 Dec 2012

Abstract excerpt

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 regulates the inclusion of a sortilin exon cassette (termed Ex17b) not normally present in the mature sortilin mRNA....

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PMID: 23236149
DOI: 10.1073/pnas.1211577110

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Misregulation of human sortilin splicing leads to the generation of a nonfunctional progranulin receptorPMID 23236149Read ↗

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