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Chronic Cyclodextrin Treatment of Murine Niemann-Pick C Disease Ameliorates Neuronal Cholesterol and Glycosphingolipid Storage and Disease Progression
Background Niemann-Pick type C (NPC) disease is a fatal neurodegenerative disorder caused most commonly by a defect in the NPC1 protein and characterized by widespread intracellular accumulation ofExpand
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Genetic evidence for nonredundant functional cooperativity between NPC1 and NPC2 in lipid transport.
Niemann-Pick C (NPC) disease is a fatal neurodegenerative disorder characterized by a lysosomal accumulation of cholesterol and other lipids within the cells of patients. Clinically identical formsExpand
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Consequences of NPC1 and NPC2 loss of function in mammalian neurons.
Genetic deficiency of NPC1 or NPC2 results in a devastating cholesterol-glycosphingolipidosis of brain and other organs known as Niemann-Pick type C (NPC) disease. While NPC1 is a transmembraneExpand
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Differential subcellular localization of cholesterol, gangliosides, and glycosaminoglycans in murine models of mucopolysaccharide storage disorders
The mucopolysaccharidoses (MPSs) are a complex family of lysosomal storage disorders characterized by failure to degrade heparan sulfate (HS) and/or other types of glycosaminoglycans (GAGs) secondaryExpand
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Critical role for glycosphingolipids in Niemann-Pick disease type C
Niemann-Pick type C (NPC) disease is a cholesterol lipidosis caused by mutations in NPC1 and NPC2 gene loci. Most human cases are caused by defects in NPC1, as are the spontaneously occurring NPCExpand
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Autophagy in lysosomal storage disorders
Lysosomes are ubiquitous intracellular organelles that have an acidic internal pH, and play crucial roles in cellular clearance. Numerous functions depend on normal lysosomes, including the turnoverExpand
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A mouse model for mucopolysaccharidosis type III A (Sanfilippo syndrome).
Mucopolysaccharidosis type III A (MPS III A, Sanfilippo syndrome) is a rare, autosomal recessive, lysosomal storage disease characterized by accumulation of heparan sulfate secondary to defectiveExpand
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Secondary accumulation of gangliosides in lysosomal storage disorders.
  • S. Walkley
  • Biology, Medicine
  • Seminars in cell & developmental biology
  • 1 August 2004
Glycosphingolipids (GSLs) known as gangliosides have been documented to accumulate in a wide range of lysosomal storage disorders, including those with and without primary defects in gangliosideExpand
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Secondary lipid accumulation in lysosomal disease.
Lysosomal diseases are inherited metabolic disorders caused by defects in a wide spectrum of lysosomal and a few non-lysosomal proteins. In most cases a single type of primary storage material isExpand
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Neurologic, gastric, and opthalmologic pathologies in a murine model of mucolipidosis type IV.
Mucolipidosis type IV (MLIV) is an autosomal recessive lysosomal storage disorder caused by mutations in the MCOLN1 gene, which encodes the 65-kDa protein mucolipin-1. The most common clinicalExpand
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