A microglial cell model for acyl-CoA oxidase 1 deficiency.
Acyl-CoA Oxidase
/ deficiency
Animals
CRISPR-Cas Systems
Cell Line
Cell Proliferation
Fatty Acids
/ metabolism
Fatty Acids, Unsaturated
/ metabolism
Gene Editing
Hydrogen Peroxide
/ metabolism
Mice
Microglia
/ cytology
Models, Biological
Mutation
Neurodegenerative Diseases
/ genetics
Oxidative Stress
Acyl-CoA oxidase
Microglia
Peroxisome
VLCFA
Journal
Biochimica et biophysica acta. Molecular and cell biology of lipids
ISSN: 1879-2618
Titre abrégé: Biochim Biophys Acta Mol Cell Biol Lipids
Pays: Netherlands
ID NLM: 101731727
Informations de publication
Date de publication:
04 2019
04 2019
Historique:
received:
21
06
2018
revised:
01
10
2018
accepted:
05
10
2018
pubmed:
13
10
2018
medline:
23
10
2019
entrez:
13
10
2018
Statut:
ppublish
Résumé
Acyl-CoA oxidase 1 (ACOX1) deficiency is a rare and severe peroxisomal leukodystrophy associated with a very long-chain fatty acid (VLCFA) β-oxidation defect. This neurodegenerative disease lacks relevant cell models to further decipher the pathomechanisms in order to identify novel therapeutic targets. Since peroxisomal defects in microglia appear to be a key component of peroxisomal leukodystrophies, we targeted the Acox1 gene in the murine microglial BV-2 cell line. Using CRISPR/Cas9 gene editing, we generated an Acox1-deficient cell line and validated the allelic mutations, which lead to the absence of ACOX1 protein and enzymatic activity. The activity of catalase, the enzyme degrading H
Identifiants
pubmed: 30312667
pii: S1388-1981(18)30324-X
doi: 10.1016/j.bbalip.2018.10.005
pii:
doi:
Substances chimiques
Fatty Acids
0
Fatty Acids, Unsaturated
0
Hydrogen Peroxide
BBX060AN9V
ACOX1 protein, mouse
EC 1.3.3.6
Acyl-CoA Oxidase
EC 1.3.3.6
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
567-576Informations de copyright
Copyright © 2018 Elsevier B.V. All rights reserved.