GCase and LIMP2 Abnormalities in the Liver of Niemann Pick Type C Mice.
Animals
Biological Transport
/ physiology
Cathepsin D
/ metabolism
Cell Line
Cell Line, Tumor
Gaucher Disease
/ metabolism
Glucosylceramidase
/ metabolism
Glucosylceramides
/ metabolism
Hep G2 Cells
Hepatocytes
/ metabolism
Humans
Liver
/ metabolism
Lysosomal Membrane Proteins
/ metabolism
Lysosomes
/ metabolism
Macrophages
/ metabolism
Mice
Mice, Inbred BALB C
Niemann-Pick Disease, Type C
/ metabolism
RAW 264.7 Cells
Receptors, Scavenger
/ metabolism
Sphingomyelins
/ metabolism
GCase
GPNMB
LIMP2
NPC
NPC1
lysosome
macrophage
storage
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
03 Mar 2021
03 Mar 2021
Historique:
received:
26
01
2021
revised:
23
02
2021
accepted:
25
02
2021
entrez:
3
4
2021
pubmed:
4
4
2021
medline:
23
4
2021
Statut:
epublish
Résumé
The lysosomal storage disease Niemann-Pick type C (NPC) is caused by impaired cholesterol efflux from lysosomes, which is accompanied by secondary lysosomal accumulation of sphingomyelin and glucosylceramide (GlcCer). Similar to Gaucher disease (GD), patients deficient in glucocerebrosidase (GCase) degrading GlcCer, NPC patients show an elevated glucosylsphingosine and glucosylated cholesterol. In livers of mice lacking the lysosomal cholesterol efflux transporter NPC1, we investigated the expression of established biomarkers of lipid-laden macrophages of GD patients, their GCase status, and content on the cytosol facing glucosylceramidase GBA2 and lysosomal integral membrane protein type B (LIMP2), a transporter of newly formed GCase to lysosomes. Livers of 80-week-old
Identifiants
pubmed: 33802460
pii: ijms22052532
doi: 10.3390/ijms22052532
pmc: PMC7959463
pii:
doi:
Substances chimiques
Glucosylceramides
0
Lysosomal Membrane Proteins
0
Receptors, Scavenger
0
SCARB2 protein, human
0
Sphingomyelins
0
Glucosylceramidase
EC 3.2.1.45
Cathepsin D
EC 3.4.23.5
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Nederlandse Organisatie voor Wetenschappelijk Onderzoek
ID : BBOL-2007247202
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