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Article

Novel progranulin variants do not disrupt progranulin secretion and cleavage.

Neurobiology of aging - 1 Nov 2013

Karch Celeste M, Jeng Amanda T, Skorupa Tara, Cruchaga Carlos, Goate Alison M

Abstract excerpt

A subset of frontotemporal dementia cases are neuropathologically defined by tau-negative, TAR DNA-binding protein-43, and ubiquitin-positive inclusions in the brain and are associated with mutations in the progranulin gene (GRN). Deep sequencing of families exhibiting late-onset dementia revealed several novel variants in GRN. Because of the small size of these families and limited availability of samples, it...

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Source

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Identifiers

PMID: 23759146
DOI: 10.1016/j.neurobiolaging.2013.05.004
PMCID: PMC3745590

Genes

GRN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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