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The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes

Journal of lipid research, 2010-02, Vol.51 (2), p.406-415

2010

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Impaired ABCA1-dependent Lipid Efflux and Hypoalphalipoproteinemia in Human Niemann-Pick type C Disease

The Journal of biological chemistry, 2003-08, Vol.278 (35), p.32569-32577

2003

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Characterization of liver disease and lipid metabolism in the Niemann-Pick C1 mouse

Journal of cellular biochemistry, 2007-05, Vol.101 (2), p.498-516

2007

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The C57BL/6J Niemann-Pick C1 mouse model with decreased gene dosage is susceptible to increased weight gain when fed a high-fat diet: Confirmation of a gene-diet interaction

Gene, 2015-08, Vol.568 (1), p.112-113

2015

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Niemann-Pick C1 protein regulates cholesterol transport to the trans-Golgi network and plasma membrane caveolae

Journal of lipid research, 2002-04, Vol.43 (4), p.579-589

2002

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Localization of the murine Niemann-Pick C1 protein to two distinct intracellular compartments

Journal of lipid research, 2000-05, Vol.41 (5), p.673-687

2000

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Npc1 haploinsufficiency promotes weight gain and metabolic features associated with insulin resistance

Human molecular genetics, 2011-01, Vol.20 (2), p.312-321

2011

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Decreased Npc1 Gene Dosage in Mice Is Associated With Weight Gain

Obesity (Silver Spring, Md.), 2010-07, Vol.18 (7), p.1457-1459

2010

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The Niemann-Pick C1 gene interacts with a high-fat diet to promote weight gain through differential regulation of central energy metabolism pathways

American journal of physiology: endocrinology and metabolism, 2017-08, Vol.313 (2), p.E183-E194

2017

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genetics of childhood obesity and interaction with dietary macronutrients

Genes & nutrition, 2013-05, Vol.8 (3), p.271-287

2013

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The Niemann-Pick C1 Gene Is Downregulated in Livers of C57BL/6J Mice by Dietary Fatty Acids, but Not Dietary Cholesterol, through Feedback Inhibition of the SREBP Pathway

The Journal of nutrition, 2012-11, Vol.142 (11), p.1935-1942

2012

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Cyclodextrins in the treatment of a mouse model of Niemann-Pick C disease

Life sciences (1973), 2001-11, Vol.70 (2), p.131-142

2001

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The Niemann-Pick C1 Gene Is Downregulated in Livers of C57BL/6J Mice by Dietary Fatty Acids, but Not Dietary Cholesterol, through Feedback Inhibition of the SREBP Pathway1–3

The Journal of nutrition, 2012-11, Vol.142 (11), p.1935-1942

2012

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The Niemann-Pick C proteins and trafficking of cholesterol through the late endosomal/lysosomal system

Current molecular medicine, 2002-08, Vol.2 (5), p.485

2002

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Rescue of neurodegeneration in Niemann–Pick C mice by a prion-promoter-driven Npc1 cDNA transgene

Human molecular genetics, 2002-11, Vol.11 (24), p.3107-3114

2002

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Site-specific Phosphorylation of Tau Accompanied by Activation of Mitogen-activated Protein Kinase (MAPK) in Brains of Niemann-Pick Type C Mice

The Journal of biological chemistry, 2001-03, Vol.276 (13), p.10314-10319

2001

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Liver disease with altered bile acid transport in Niemann-Pick C mice on a high-fat, 1% cholesterol diet

American journal of physiology: Gastrointestinal and liver physiology, 2005-08, Vol.289 (2), p.G300-G307

2005

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Diffusion Tensor Imaging in Niemann-Pick Type C Disease

Pediatric neurology, 2005-11, Vol.33 (5), p.325-330

2005

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Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5

American journal of human genetics, 2014-05, Vol.94 (5), p.734-744

2014

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mdr1a deficiency corrects sterility in Niemann-Pick C1 protein deficient female mice

Molecular reproduction and development, 2002-06, Vol.62 (2), p.167-173

2002

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The Niemann–Pick C1 protein in feline fibroblasts

Molecular genetics and metabolism, 2002-05, Vol.76 (1), p.31-36

2002

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Fine linkage and physical mapping suggests cross-over suppression with a retroposon insertion at the npc1 mutation

Mammalian genome, 2000-09, Vol.11 (9), p.774-778

2000

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The Niemann-Pick C1 Gene Is Downregulated in Livers of C57BL/6J Mice by Dietary Fatty Acids, but Not Dietary Cholesterol, through Feedback Inhibition of the SREBP Pathway3

The Journal of nutrition, 2012-11, Vol.142 (11), p.1935-1942

2012

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The Niemann-Pick C1 Gene Is Downregulated in Livers of C57BL/6J Mice by Dietary Fatty Acids, but Not Dietary Cholesterol, through Feedback Inhibition of the SREBP Pathway123

The Journal of nutrition, 2012-09, Vol.142 (11), p.1935-1942

2012

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Fumaric aciduria: Clinical and imaging features

Annals of neurology, 2000-05, Vol.47 (5), p.583-588

2000

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The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes

Impaired ABCA1-dependent Lipid Efflux and Hypoalphalipoproteinemia in Human Niemann-Pick type C Disease

Characterization of liver disease and lipid metabolism in the Niemann-Pick C1 mouse

The C57BL/6J Niemann-Pick C1 mouse model with decreased gene dosage is susceptible to increased weight gain when fed a high-fat diet: Confirmation of a gene-diet interaction

Niemann-Pick C1 protein regulates cholesterol transport to the trans-Golgi network and plasma membrane caveolae

Localization of the murine Niemann-Pick C1 protein to two distinct intracellular compartments

Npc1 haploinsufficiency promotes weight gain and metabolic features associated with insulin resistance

Decreased Npc1 Gene Dosage in Mice Is Associated With Weight Gain

The Niemann-Pick C1 gene interacts with a high-fat diet to promote weight gain through differential regulation of central energy metabolism pathways

genetics of childhood obesity and interaction with dietary macronutrients

The Niemann-Pick C1 Gene Is Downregulated in Livers of C57BL/6J Mice by Dietary Fatty Acids, but Not Dietary Cholesterol, through Feedback Inhibition of the SREBP Pathway

Cyclodextrins in the treatment of a mouse model of Niemann-Pick C disease

The Niemann-Pick C1 Gene Is Downregulated in Livers of C57BL/6J Mice by Dietary Fatty Acids, but Not Dietary Cholesterol, through Feedback Inhibition of the SREBP Pathway1–3

The Niemann-Pick C proteins and trafficking of cholesterol through the late endosomal/lysosomal system

Rescue of neurodegeneration in Niemann–Pick C mice by a prion-promoter-driven Npc1 cDNA transgene

Site-specific Phosphorylation of Tau Accompanied by Activation of Mitogen-activated Protein Kinase (MAPK) in Brains of Niemann-Pick Type C Mice

Liver disease with altered bile acid transport in Niemann-Pick C mice on a high-fat, 1% cholesterol diet

Diffusion Tensor Imaging in Niemann-Pick Type C Disease

Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5

mdr1a deficiency corrects sterility in Niemann-Pick C1 protein deficient female mice

The Niemann–Pick C1 protein in feline fibroblasts

Fine linkage and physical mapping suggests cross-over suppression with a retroposon insertion at the npc1 mutation

The Niemann-Pick C1 Gene Is Downregulated in Livers of C57BL/6J Mice by Dietary Fatty Acids, but Not Dietary Cholesterol, through Feedback Inhibition of the SREBP Pathway3

The Niemann-Pick C1 Gene Is Downregulated in Livers of C57BL/6J Mice by Dietary Fatty Acids, but Not Dietary Cholesterol, through Feedback Inhibition of the SREBP Pathway123

Fumaric aciduria: Clinical and imaging features

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