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2010 | 1 |
2011 | 1 |
2016 | 1 |
2024 | 0 |
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Niemann-Pick type C2 deficiency impairs autophagy-lysosomal activity, mitochondrial function, and TLR signaling in adipocytes.
J Lipid Res. 2016 Sep;57(9):1644-58. doi: 10.1194/jlr.M066522. Epub 2016 Jul 8.
J Lipid Res. 2016.
PMID: 27402802
Free PMC article.
Protein replacement therapy partially corrects the cholesterol-storage phenotype in a mouse model of Niemann-Pick type C2 disease.
Nielsen GK, Dagnaes-Hansen F, Holm IE, Meaney S, Symula D, Andersen NT, Heegaard CW.
Nielsen GK, et al.
PLoS One. 2011;6(11):e27287. doi: 10.1371/journal.pone.0027287. Epub 2011 Nov 3.
PLoS One. 2011.
PMID: 22073306
Free PMC article.
For evaluation of phenotype correction in vivo, three-week-old NPC2(-/-) mice received two weekly intravenous injections of 5 mg/kg NPC2 until trial termination 66 days later. Whereas the saline treated NPC2(-/-) mice exhibited massive visceral cholesterol storage as compa …
For evaluation of phenotype correction in vivo, three-week-old NPC2(-/-) mice received two weekly intravenous injections of 5 mg/kg NPC2 unt …
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Successful allogeneic bone marrow transplant for Niemann-Pick disease type C2 is likely to be associated with a severe 'graft versus substrate' effect.
Bonney DK, O'Meara A, Shabani A, Imrie J, Bigger BW, Jones S, Wraith JE, Wynn RF.
Bonney DK, et al.
J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S171-3. doi: 10.1007/s10545-010-9060-3.
J Inherit Metab Dis. 2010.
PMID: 20393800
Niemann-Pick disease type C2 (NPC2) is caused by the inherited deficiency of a lysosomal cholesterol transport protein, NPC2 protein. ...
Niemann-Pick disease type C2 (NPC2) is caused by the inherited deficiency of a lysosomal cholesterol tran …
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