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Article

Pathogenic cysteine mutations affect progranulin function and production of mature granulins.

Journal of neurochemistry - 1 Mar 2010

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

Abstract excerpt

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 characte...

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Identifiers

PMID: 20028451
DOI: 10.1111/j.1471-4159.2009.06546.x
PMCID: PMC2819556

Genes

GRN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20028451-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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