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Article

Intrinsic link between PGRN and Gba1 D409V mutation dosage in potentiating Gaucher disease.

Human molecular genetics - 7 Oct 2024

Lin Yi, Zhao Xiangli, Liou Benjamin, Fannin Venette, Zhang Wujuan, Setchell Kenneth D R, Wang Xiaohong, Pan Dao, Grabowski Gregory A, Liu Chuan-Ju, Sun Ying

Abstract excerpt

Gaucher disease (GD) is caused by biallelic GBA1/Gba1 mutations that encode defective glucocerebrosidase (GCase). Progranulin (PGRN, encoded by GRN/Grn) is a modifier of GCase, but the interplay between PGRN and GCase, specifically GBA1/Gba1 mutations, contributing to GD severity is unclear. Mouse models were developed with various dosages of Gba1 D409V mutation against the PGRN deficiency (Grn-/-)...

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Identifiers

PMID: 39101473
DOI: 10.1093/hmg/ddae113
PMCID: PMC11458007

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