Defective platelet function in Niemann-Pick disease type C1.
Niemann‐Pick disease type C
calcium (Ca2+)
lysosome
lysosome‐related organelle
Journal
JIMD reports
ISSN: 2192-8304
Titre abrégé: JIMD Rep
Pays: United States
ID NLM: 101568557
Informations de publication
Date de publication:
Nov 2020
Nov 2020
Historique:
received:
14
05
2020
revised:
24
06
2020
accepted:
26
06
2020
entrez:
18
11
2020
pubmed:
19
11
2020
medline:
19
11
2020
Statut:
epublish
Résumé
Niemann-Pick disease type C (NPC) is a neurodegenerative lysosomal storage disorder caused by mutations in either
Identifiants
pubmed: 33204596
doi: 10.1002/jmd2.12148
pii: JMD212148
pmc: PMC7653256
doi:
Types de publication
Journal Article
Langues
eng
Pagination
46-57Subventions
Organisme : Wellcome Trust
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 202834/Z/16/Z
Pays : United Kingdom
Informations de copyright
© 2020 The Authors. JIMD Reports published by John Wiley & Sons Ltd on behalf of SSIEM.
Déclaration de conflit d'intérêts
The authors have no conflict of interest.
Références
J Clin Invest. 1999 Jan;103(2):229-38
pubmed: 9916135
Curr Biol. 2010 Apr 27;20(8):703-9
pubmed: 20346675
Bioessays. 2004 Jun;26(6):616-28
pubmed: 15170859
J Exp Zool A Comp Exp Biol. 2003 Jun 1;297(2):130-7
pubmed: 12945749
J Inherit Metab Dis. 2020 May;43(3):574-585
pubmed: 31707734
J Exp Med. 2012 Nov 19;209(12):2137-40
pubmed: 23166370
J Biol Chem. 1998 Jul 31;273(31):19554-9
pubmed: 9677379
Arterioscler Thromb Vasc Biol. 2010 Dec;30(12):2341-9
pubmed: 21071698
Medicine (Baltimore). 1958 Feb;37(1):1-95
pubmed: 13516139
Cell Calcium. 2011 Aug;50(2):200-5
pubmed: 21724254
J Biol Chem. 2004 Jun 18;279(25):26167-75
pubmed: 15078881
Elife. 2015 Dec 08;4:
pubmed: 26646182
Cell. 2002 Nov 27;111(5):703-8
pubmed: 12464181
Haematologica. 2014 Jun;99(6):953-5
pubmed: 24881040
Cell Calcium. 2020 Mar;86:102139
pubmed: 31881482
JIMD Rep. 2020 Sep 12;56(1):46-57
pubmed: 33204596
Orphanet J Rare Dis. 2010 Jun 03;5:16
pubmed: 20525256
Blood. 1992 Sep 15;80(6):1470-5
pubmed: 1520873
Blood. 2014 Jan 2;123(1):51-60
pubmed: 24235134
J Exp Med. 2012 Nov 19;209(12):2165-81
pubmed: 23148237
Biochem J. 2011 Nov 1;439(3):349-74
pubmed: 21992097
Biochim Biophys Acta. 2011 Aug;1813(8):1483-94
pubmed: 21601596
J Cell Biol. 2003 Feb 17;160(4):577-87
pubmed: 12591916
J Biol Chem. 1990 Oct 25;265(30):18531-7
pubmed: 2211717
Am J Med Genet B Neuropsychiatr Genet. 2010 Jan 5;153B(1):132-40
pubmed: 19415691
Sci China Life Sci. 2011 Aug;54(8):725-32
pubmed: 21786195
Am J Pathol. 1974 Nov;77(2):135-49
pubmed: 4374890
FASEB J. 2010 Dec;24(12):4701-10
pubmed: 20686109
J Cell Biol. 2013 Mar 18;200(6):789-805
pubmed: 23479744
J Clin Invest. 2014 Mar;124(3):1320-8
pubmed: 24487591
Histopathology. 2006 Apr;48(5):596-603
pubmed: 16623786
Cell Rep. 2018 Dec 11;25(11):3180-3193.e7
pubmed: 30540949
J Cell Biol. 1997 Jan 27;136(2):355-66
pubmed: 9015306
Curr Opin Cell Biol. 2013 Aug;25(4):495-505
pubmed: 23726022
J Biol Chem. 2004 Aug 6;279(32):34032-7
pubmed: 15163665
Hum Mol Genet. 2013 Jan 1;22(1):61-73
pubmed: 23010472
Biochem J. 2012 Jan 1;441(1):435-42
pubmed: 21967541
Orphanet J Rare Dis. 2014 Sep 18;9:143
pubmed: 25227739
Nat Med. 2008 Nov;14(11):1247-55
pubmed: 18953351
Pflugers Arch. 1994 Jun;427(3-4):325-31
pubmed: 8072853
Biomed Rep. 2017 Jan;6(1):83-88
pubmed: 28123713
FASEB J. 2000 Jul;14(10):1265-78
pubmed: 10877819
Clin Chim Acta. 2014 Feb 15;429:69-75
pubmed: 24296264