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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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Review
2010
Review
2010
  • M. Vanier
  • Orphanet journal of rare diseases
  • 2010
  • Corpus ID: 14753402
Niemann-Pick C disease (NP-C) is a neurovisceral atypical lysosomal lipid storage disorder with an estimated minimal incidence of… Expand
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Highly Cited
2009
Highly Cited
2009
LDL delivers cholesterol to lysosomes by receptor-mediated endocytosis. Exit of cholesterol from lysosomes requires two proteins… Expand
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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… Expand
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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… Expand
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Review
2008
Review
2008
Deregulated lipid metabolism may be of particular importance for CNS injuries and disorders, as this organ has the highest lipid… Expand
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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… Expand
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Review
2007
Review
2007
Niemann-Pick disease type C (NPC) is a fatal neurovisceral lipid storage disease of autosomal inheritance resulting from… Expand
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Highly Cited
2004
Highly Cited
2004
Niemann-Pick C (NPC) disease is a fatal neurodegenerative disorder characterized by a lysosomal accumulation of cholesterol and… Expand
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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… Expand
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Highly Cited
2003
Highly Cited
2003
The neurodegenerative disease Niemann–Pick Type C2 (NPC2) results from mutations in the NPC2 (HE1) gene that cause abnormally… Expand
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