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Article

UPR activation and CHOP mediated induction of GBA1 transcription in Gaucher disease.

Blood cells, molecules & diseases - 1 Feb 2018

Braunstein Hila, Maor Gali, Chicco Gaya, Filocamo Mirella, Zimran Ari, Horowitz Mia

Abstract excerpt

Chronic presence of mutant, misfolded proteins in the endoplasmic reticulum (ER) initiates ER stress and induces the Unfolded Protein Response (UPR). In Gaucher disease (GD), resulting from mutations in the GBA1 gene, encoding lysosomal acid β-glucocerebrosidase (GCase), a certain fraction of the mutant variants is retained in the ER and activates the UPR. We have previously shown UPR activation in GD derived...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27856178
DOI: 10.1016/j.bcmd.2016.10.025

Genes

GBA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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