β-Galactosylceramidase Deficiency Causes Bone Marrow Vascular Defects in an Animal Model of Krabbe Disease.
Animals
Bone Marrow
/ metabolism
Brain
/ metabolism
Cytokines
/ metabolism
Disease Models, Animal
Endothelial Cells
/ metabolism
Galactosylceramidase
/ genetics
Hematopoiesis
Hematopoietic Stem Cell Transplantation
Leukodystrophy, Globoid Cell
/ genetics
Mice
Mice, Inbred C57BL
Platelet Endothelial Cell Adhesion Molecule-1
/ metabolism
Vascular Endothelial Growth Factor Receptor-2
/ metabolism
Krabbe disease
beta-galactosylceramidase
bone marrow
endothelium
twitcher mice
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:
30 Dec 2019
30 Dec 2019
Historique:
received:
25
10
2019
revised:
13
12
2019
accepted:
28
12
2019
entrez:
8
1
2020
pubmed:
8
1
2020
medline:
19
5
2020
Statut:
epublish
Résumé
Krabbe disease (KD) is an autosomal recessive sphingolipidosis caused by the deficiency of the lysosomal hydrolase β-galactosylceramidase (GALC). Oligodendroglia degeneration and demyelination of the nervous system lead to neurological dysfunctions which are usually lethal by two years of age. At present, the only clinical treatment with any proven efficacy is hematopoietic stem-cell transplantation, which is more effective when administered in the neonatal period to presymptomatic recipients. Bone marrow (BM) sinusoidal endothelial cells (SECs) play a pivotal role in stem cell engraftment and reconstitution of hematopoiesis. Previous observations had shown significant alterations of microvascular endothelial cells in the brain of KD patients and in
Identifiants
pubmed: 31905906
pii: ijms21010251
doi: 10.3390/ijms21010251
pmc: PMC6982065
pii:
doi:
Substances chimiques
Cytokines
0
Pecam1 protein, mouse
0
Platelet Endothelial Cell Adhesion Molecule-1
0
Kdr protein, mouse
EC 2.7.10.1
Vascular Endothelial Growth Factor Receptor-2
EC 2.7.10.1
Galactosylceramidase
EC 3.2.1.46
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Associazione Italiana per la Ricerca sul Cancro
ID : AIRC IG grant n° 18943
Organisme : Fondazione Cariplo
ID : grant n° 2016-0570
Références
Development. 2016 Aug 1;143(15):2706-15
pubmed: 27486231
Curr Opin Hematol. 2016 May;23(3):253-9
pubmed: 27055047
Physiol Rev. 2019 Apr 1;99(2):1281-1324
pubmed: 30864875
Nature. 2013 Jun 27;498(7455):492-6
pubmed: 23748444
Cell Mol Neurobiol. 2000 Apr;20(2):131-47
pubmed: 10696506
Circulation. 2017 Feb 21;135(8):786-805
pubmed: 27899395
Pediatrics. 2006 Sep;118(3):e879-89
pubmed: 16923928
J Neurosci Res. 2016 Nov;94(11):1359-67
pubmed: 27037626
J Child Neurol. 2003 Sep;18(9):595-603
pubmed: 14572137
Biochim Biophys Acta. 2010 Jul-Aug;1802(7-8):601-8
pubmed: 20441793
J Lipid Res. 2001 Dec;42(12):2092-5
pubmed: 11734583
Neuropediatrics. 1985 Aug;16(3):137-42
pubmed: 4047347
J Neurochem. 1996 Mar;66(3):1118-24
pubmed: 8769874
Biochim Biophys Acta. 2009 Apr;1793(4):684-96
pubmed: 19111581
Neurochem Res. 1998 Mar;23(3):251-9
pubmed: 9482237
Arch Biochem Biophys. 2008 Sep 15;477(2):211-8
pubmed: 18602885
Biochim Biophys Acta. 2002 May 23;1582(1-3):138-43
pubmed: 12069821
J Neurosci. 2007 Dec 12;27(50):13730-8
pubmed: 18077684
N Engl J Med. 2005 May 19;352(20):2069-81
pubmed: 15901860
Brain Pathol. 1995 Jul;5(3):249-58
pubmed: 8520724
Proc Natl Acad Sci U S A. 1970 Jun;66(2):302-9
pubmed: 5271165
Immunity. 2018 Apr 17;48(4):632-648
pubmed: 29669248
Angiogenesis. 2015 Oct;18(4):499-510
pubmed: 26310512
Brain. 2013 Sep;136(Pt 9):2859-75
pubmed: 23983033
J Cell Biol. 2000 May 15;149(4):943-50
pubmed: 10811833
Brain Dev. 2009 Aug;31(7):485-7
pubmed: 19332366
Mol Genet Metab. 2000 May;70(1):1-9
pubmed: 10833326
Int J Mol Sci. 2019 May 14;20(10):null
pubmed: 31091708
Biochem Biophys Res Commun. 1987 Apr 14;144(1):41-6
pubmed: 3579916
Cell Stem Cell. 2009 Mar 6;4(3):263-74
pubmed: 19265665
Blood. 2010 Sep 16;116(11):1857-66
pubmed: 20511539
Am J Pathol. 1983 Jun;111(3):394-7
pubmed: 6859223
J Neurosci Res. 2016 Nov;94(11):1341-8
pubmed: 27638616
Science. 1984 May 18;224(4650):753-5
pubmed: 6719111
World J Gastroenterol. 2004 Feb 15;10(4):463-70
pubmed: 14966899