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Niemann-Pick Disease, Type C1

Known as: NPC1, Niemann Pick disease, Subacute Juvenile Form, Niemann-Pick disease, Subacute Juvenile Form 
Type C Niemann-Pick disease associated with a mutation in the gene NPC1, encoding Niemann-Pick C1 protein.
National Institutes of Health

Related topics

Related topics

20 relations
Abnormal behaviorAutosomal recessive inheritanceCataplexyCerebellar Ataxia

Broader (1)

Niemann-Pick Disease, Type C

Papers overview

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Highly Cited
2014
Highly Cited
2014
Human and mouse neuroinflammation markers in Niemann-Pick disease, type C1
Niemann-Pick disease, type C1 (NPC1) is an autosomal recessive lipid storage disorder in which a pathological cascade, including… 
Highly Cited
2012
Highly Cited
2012
Microarray expression analysis and identification of serum biomarkers for Niemann-Pick disease, type C1.
Niemann-Pick disease type C (NPC) is a lysosomal storage disorder characterized by liver disease and progressive… 
Highly Cited
2010
Highly Cited
2010
Exosome Secretion Ameliorates Lysosomal Storage of Cholesterol in Niemann-Pick Type C Disease*
Niemann-Pick type C1 disease is an autosomal-recessive lysosomal storage disorder. Loss of function of the npc1 gene leads to… 
Highly Cited
2010
Highly Cited
2010
Weekly Cyclodextrin Administration Normalizes Cholesterol Metabolism in Nearly Every Organ of the Niemann-Pick Type C1 Mouse and Markedly Prolongs Life
Niemann-Pick type C1 (NPC1) disease arises from a mutation inactivating NPC1 protein that normally moves unesterified cholesterol… 
Highly Cited
2010
Highly Cited
2010
MLN64 mediates egress of cholesterol from endosomes to mitochondria in the absence of functional Niemann-Pick Type C1 protein
Niemann-Pick Type C (NPC) disease is a fatal, neurodegenerative disorder, caused in most cases by mutations in the late endosomal… 
Highly Cited
2007
Highly Cited
2007
The National Niemann–Pick C1 disease database: Report of clinical features and health problems
Niemann–Pick type C1 (NPC1) disease is an autosomal recessive disorder characterized clinically by neonatal jaundice… 
Review
2006
Review
2006
The adult form of Niemann-Pick disease type C.
Niemann-Pick disease type C (NPC) is a fatal neurovisceral lipid storage disease of autosomal inheritance resulting from… 
Highly Cited
2003
Highly Cited
2003
Patterned Purkinje cell degeneration in mouse models of Niemann‐Pick type C disease
Niemann Pick disease type C1 (NPC1) is an inherited, autosomal recessive, lipid‐storage disorder with major neurological… 
Highly Cited
1997
Highly Cited
1997
Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis.
Niemann-Pick type C (NP-C) disease, a fatal neurovisceral disorder, is characterized by lysosomal accumulation of low density… 
Highly Cited
1997
Highly Cited
1997
Murine model of Niemann-Pick C disease: mutation in a cholesterol homeostasis gene.
An integrated human-mouse positional candidate approach was used to identify the gene responsible for the phenotypes observed in… 
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