NPC2 gene

Known as: NP-C2, HE1, EPIDIDYMAL SECRETORY PROTEIN 
 

Topic mentions per year

Topic mentions per year

1987-2017
02419872017

Papers overview

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2013
2013
We report identification of a homozygous mutation in NPC2 in two Iranian siblings with a neurologic dysfunction whose disease had… (More)
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2011
2011
Niemann-Pick type C2 (NPC2) disease is a fatal autosomal recessive neurovisceral degenerative disorder characterized by late… (More)
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2010
2010
We examined the effect of Niemann-Pick disease type 2 (NPC2) protein and some late endosomal lipids [sphingomyelin, ceramide and… (More)
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2009
2009
The eye lens Crystallin proteins are subject to UV irradiation throughout life, and the photochemistry of damage proceeds through… (More)
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Highly Cited
2008
Highly Cited
2008
Egress of lipoprotein-derived cholesterol from lysosomes requires two lysosomal proteins, polytopic membrane-bound Niemann-Pick… (More)
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Highly Cited
2007
Highly Cited
2007
NPC2 is a small lysosomal glycoprotein that binds cholesterol with submicromolar affinity. Deficiency in NPC2 is the cause of… (More)
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2004
2004
New promising compounds, derived from the esterification of hyaluronic acid with butyric acid, were investigated in vitro on a… (More)
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2001
2001
In Niemann-Pick disease type C (NPC), a genetic heterogeneity with two complementation groups--NPC1, comprising > or =95% of the… (More)
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Highly Cited
2000
Highly Cited
2000
Niemann-Pick type C2 disease (NP-C2) is a fatal hereditary disorder of unknown etiology characterized by defective egress of… (More)
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Review
1990
Review
1990
Results from our and other laboratories show that compounds possessing a positively charged heteroatom at a position identical to… (More)
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