Article

CRISPR correction of GBA mutation in hiPSCs restores normal function to Gaucher macrophages and increases their susceptibility to Mycobacterium tuberculosis

2022-11-26

Abstract excerpt

Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder caused by mutations in the β-glucocerebrosidase (GCase) GBA gene, which result in macrophage dysfunction. To investigate whether correction of GBA mutations restores normal function to Gaucher macrophages, we performed CRISPR editing of homozygous L444P (1448T→C) GBA mutation in Type 2 GD ( GBA -/-) hiPSCs, which yielded both heterozygou...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 2b983529-6ddd-5125-b17a-c22a1b5f658a
DOI: 10.1101/2022.11.26.517656

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

CRISPR correction of GBA mutation in hiPSCs restores normal function to Gaucher macrophages and increases their susceptibility to Mycobacterium tuberculosisDOI 10.1101/2022.11.26.517656Read

CRISPR Correction of the GBA Mutation in Human-Induced Pluripotent Stem Cells Restores Normal Function to Gaucher Macrophages and Increases Their Susceptibility to Mycobacterium tuberculosis.Semantic proximity Read

CRISPR/Cas9 Editing for Gaucher Disease Modelling.Semantic proximity Read

Gaucher Disease Protects Against TuberculosisSemantic proximity Read

Functional Analysis of Human GBA1 Missense Mutations in Drosophila: Insights into Gaucher Disease Pathogenesis and Phenotypic Consequences.Semantic proximity Read

Gaucher disease protects against tuberculosis.Semantic proximity Read

A genome-wide screen in macrophages defines host genes regulating the uptake of Mycobacterium abscessusSemantic proximity Read

Galectin-8 senses phagosomal damage and recruits selective autophagy adapter TAX1BP1 to control Mycobacterium tuberculosis infection in macrophagesSemantic proximity Read

Lysosomal Disorders Drive Susceptibility to Tuberculosis by Compromising Macrophage MigrationSemantic proximity Read

Macrophage Models of Gaucher Disease for Evaluating Disease Pathogenesis and Candidate DrugsSemantic proximity Read

Engineering monocyte/macrophage−specific glucocerebrosidase expression in human hematopoietic stem cells using genome editingSemantic proximity Read

Autologous genome-edited hematopoietic stem cells correct Gaucher disease and establish a platform for clinical translationSemantic proximity Read

Heterozygosity for Crohn’s Disease Risk Allele of ATG16L1 Protects against Bacterial InfectionSemantic proximity Read

CRISPR correction of <i>GBA</i> mutation in hiPSCs restores normal function to Gaucher macrophages and increases their susceptibility to <i>Mycobacterium tuberculosis</i>

Abstract excerpt

Topics

Identifiers and source

Related research