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Article

Targeted manipulation of the sortilin-progranulin axis rescues progranulin haploinsufficiency.

Human molecular genetics - 15 Mar 2014

Lee Wing C, Almeida Sandra, Prudencio Mercedes, Caulfield Thomas R, Zhang Yong-Jie, Tay William M, Bauer Peter O, Chew Jeannie, Sasaguri Hiroki, Jansen-West Karen R, Gendron Tania F, Stetler Caroline T, Finch NiCole, Mackenzie Ian R, Rademakers Rosa, Gao Fen-Biao, Petrucelli Leonard

Abstract excerpt

Progranulin (GRN) mutations causing haploinsufficiency are a major cause of frontotemporal lobar degeneration (FTLD-TDP). Recent discoveries demonstrating sortilin (SORT1) is a neuronal receptor for PGRN endocytosis and a determinant of plasma PGRN levels portend the development of enhancers targeting the SORT1-PGRN axis. We demonstrate the preclinical efficacy of several approaches through which impairing PGRN's...

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Source

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Identifiers

PMID: 24163244
DOI: 10.1093/hmg/ddt534
PMCID: PMC3929086

Genes

SORT1
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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