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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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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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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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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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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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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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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.52 (2), p.G300-G307

2005

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Variable presentation of Rothmund-Thomson syndrome

American journal of medical genetics, 2000-11, Vol.95 (3), p.204-207

2000

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Cholesterol Signaling at the Endoplasmic Reticulum Occurs in npc1−/− but Not in npc1−/−, LDLR−/− Mice

Biochemical and biophysical research communications, 2001-06, Vol.284 (2), p.326-330

2001

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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

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

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

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

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

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

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

Variable presentation of Rothmund-Thomson syndrome

Cholesterol Signaling at the Endoplasmic Reticulum Occurs in npc1−/− but Not in npc1−/−, LDLR−/− Mice

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