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Article

Granulin mutations associated with frontotemporal lobar degeneration and related disorders: an update.

Human mutation - 1 Dec 2008

Gijselinck I, Van Broeckhoven C, Cruts M

Abstract excerpt

Mutations in the gene encoding granulin (HUGO gene symbol GRN, also referred to as progranulin, PGRN), located at chromosome 17q21, were recently linked to tau-negative ubiquitin-positive frontotemporal lobar degeneration (FTLDU). Since then, 63 heterozygous mutations were identified in 163 families worldwide, all leading to loss of functional GRN, implicating a haploinsufficiency mechanism. Together, these...

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Source

Identifiers

PMID: 18543312
DOI: 10.1002/humu.20785

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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