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Article

Genome-wide screen identifies rs646776 near sortilin as a regulator of progranulin levels in human plasma.

American journal of human genetics - 10 Dec 2010

Carrasquillo Minerva M, Nicholson Alexandra M, Finch NiCole, Gibbs J Raphael, Baker Matt, Rutherford Nicola J, Hunter Talisha A, DeJesus-Hernandez Mariely, Bisceglio Gina D, Mackenzie Ian R, Singleton Andrew, Cookson Mark R, Crook Julia E, Dillman Allissa, Hernandez Dena, Petersen Ronald C, Graff-Radford Neill R, Younkin Steven G, Rademakers Rosa

Abstract excerpt

Recent studies suggest progranulin (GRN) is a neurotrophic factor. Loss-of-function mutations in the progranulin gene (GRN) cause frontotemporal lobar degeneration (FTLD), a progressive neurodegenerative disease affecting ∼10% of early-onset dementia patients. Using an enzyme-linked immunosorbent...

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Source

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Identifiers

PMID: 21087763
DOI: 10.1016/j.ajhg.2010.11.002
PMCID: PMC2997361

Genes

GRN
SORT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21087763-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genome-wide screen identifies rs646776 near sortilin as a regulator of progranulin levels in human plasma.PMID 21087763Read ↗

Rare nonsynonymous variants in SORT1 are associated with increased risk for frontotemporal dementia.Semantic proximity Read ↗

Soluble sortilin is present in excess and positively correlates with progranulin in CSF of aging individuals.Semantic proximity Read ↗

Human genetics as a tool to identify progranulin regulators.Semantic proximity Read ↗

Targeted manipulation of the sortilin-progranulin axis rescues progranulin haploinsufficiency.Semantic proximity Read ↗

Progranulin protein levels are differently regulated in plasma and CSF.Semantic proximity Read ↗

Cerebrospinal Fluid Progranulin, but Not Serum Progranulin, Is Reduced in GRN-Negative Frontotemporal Dementia.Semantic proximity Read ↗

C-Terminus of Progranulin Interacts with the Beta-Propeller Region of Sortilin to Regulate Progranulin TraffickingSemantic proximity Read ↗

Genome-wide meta-analysis identifies novel determinants of circulating serum progranulin.Semantic proximity Read ↗

Progranulin gene variation affects serum progranulin levels differently in Danish bipolar individuals compared with healthy controls.Semantic proximity Read ↗

A systematic review of progranulin concentrations in biofluids in over 7,000 people-assessing the pathogenicity of GRN mutations and other influencing factors.Semantic proximity Read ↗

Frontotemporal dementia as a consequence of GRN mutations: From disease cause to models to therapies.Semantic proximity Read ↗

Sortilin-Mediated Endocytosis Determines Levels of the Frontotemporal Dementia Protein, ProgranulinSemantic proximity Read ↗

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