NIEMANN-PICK DISEASE, TYPE C2

Known as: NPC2, Type C2 Niemann-Pick Disease 
Type C Niemann-Pick disease associated with a mutation in the gene NPC2, encoding Niemann-Pick C2 protein.
National Institutes of Health

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Highly Cited
2010
Highly Cited
2010
Niemann-Pick type C disease (NPC) is a lysosomal storage disorder causing accumulation of unesterified cholesterol in lysosomal… (More)
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Review
2010
Review
2010
Niemann-Pick C disease (NP-C) is a neurovisceral atypical lysosomal lipid storage disorder with an estimated minimal incidence of… (More)
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2010
2010
Niemann-Pick diseases are hereditary neurovisceral lysosomal lipid storage disorders, of which the rare type C2 almost uniformly… (More)
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Highly Cited
2010
Highly Cited
2010
Water-soluble Niemann-Pick C2 (NPC2) and membrane-bound NPC1 are cholesterol-binding lysosomal proteins required for export of… (More)
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Highly Cited
2009
Highly Cited
2009
BACKGROUND Niemann-Pick type C (NPC) disease is a fatal neurodegenerative disorder caused most commonly by a defect in the NPC1… (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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Highly Cited
2007
Highly Cited
2007
The Niemann-Pick type C2 (NPC2) protein is a small, soluble, lysosomal protein important for cholesterol and sphingolipid… (More)
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Highly Cited
2006
Highly Cited
2006
Cells acquire cholesterol either by de novo synthesis in the endoplasmic reticulum or by internalization of cholesterol… (More)
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Review
2003
Review
2003
Niemann-Pick disease type C (NPC) is an autosomal recessive neurovisceral lipid storage with a wide spectrum of clinical… (More)
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Highly Cited
2003
Highly Cited
2003
Niemann-Pick disease type C2 (NP-C2) is a fatal hereditary disease characterized by accumulation of low-density lipoprotein… (More)
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