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The Extending Spectrum of NPC1-Related Human Disorders: From Niemann-Pick C1 Disease to Obesity

Endocrine reviews, 2018-04, Vol.39 (2), p.192-220

2018

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Gene-nutrient interactions and susceptibility to human obesity

Genes & nutrition, 2017-10, Vol.12 (1), p.29-29, Article 29

2017

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Genetic background modifies phenotypic severity and longevity in a mouse model of Niemann-Pick disease type C1

Disease models & mechanisms, 2020-03, Vol.13 (3)

2020

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Altered Cholesterol Metabolism in Niemann-Pick Type C1 Mouse Brains Affects Mitochondrial Function

The Journal of biological chemistry, 2005-03, Vol.280 (12), p.11731-11739

2005

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A high-fat diet supplemented with fish oil improves metabolic features associated with type 2 diabetes

Nutrition (Burbank, Los Angeles County, Calif.), 2013-09, Vol.29 (9), p.1159-1165

2013

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Gene-Diet Interactions in Childhood Obesity

Current genomics, 2011-05, Vol.12 (3), p.180-189

Garver, William S

2011

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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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The National Niemann-Pick C1 disease database: Report of clinical features and health problems

American journal of medical genetics. Part A, 2007-06, Vol.143A (11), p.1204-1211

2007

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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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Signatures of natural selection and ethnic-specific prevalence of NPC1 pathogenic mutations contributing to obesity and Niemann-Pick disease type C1

Scientific reports, 2020-11, Vol.10 (1), p.18787-18787, Article 18787

2020

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The Niemann-Pick C1 gene is downregulated by feedback inhibition of the SREBP pathway in human fibroblasts

Journal of lipid research, 2008-05, Vol.49 (5), p.1090-1102

2008

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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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Long‐term survival outcomes of patients with Niemann‐Pick disease type C receiving miglustat treatment: A large retrospective observational study

Journal of inherited metabolic disease, 2020-09, Vol.43 (5), p.1060-1069

2020

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Acat1/Soat1 knockout extends the mutant Npc1 mouse lifespan and ameliorates functional deficiencies in multiple organelles of mutant cells

Proceedings of the National Academy of Sciences - PNAS, 2022-05, Vol.119 (18), p.e2201646119-e2201646119

2022

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A global evolutionary and metabolic analysis of human obesity gene risk variants

Gene, 2017-09, Vol.627, p.412-419

2017

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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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The C57BL/6J Niemann–Pick C1 mouse model with decreased gene dosage has impaired glucose tolerance independent of body weight

Gene, 2013-09, Vol.527 (1), p.65-70

2013

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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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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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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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Niemann-Pick C1 expression is not regulated by the amount of cholesterol flowing through cells in the mouse

Journal of lipid research, 2005-08, Vol.46 (8), p.1745-1754

2005

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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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111 In-DANBIRT In Vivo Molecular Imaging of Inflammatory Cells in Atherosclerosis

Contrast media and molecular imaging, 2018-01, Vol.2018, p.6508724-10

2018

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The Extending Spectrum of NPC1-Related Human Disorders: From Niemann-Pick C1 Disease to Obesity

Gene-nutrient interactions and susceptibility to human obesity

Genetic background modifies phenotypic severity and longevity in a mouse model of Niemann-Pick disease type C1

Altered Cholesterol Metabolism in Niemann-Pick Type C1 Mouse Brains Affects Mitochondrial Function

A high-fat diet supplemented with fish oil improves metabolic features associated with type 2 diabetes

Gene-Diet Interactions in Childhood Obesity

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

The National Niemann-Pick C1 disease database: Report of clinical features and health problems

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

Signatures of natural selection and ethnic-specific prevalence of NPC1 pathogenic mutations contributing to obesity and Niemann-Pick disease type C1

The Niemann-Pick C1 gene is downregulated by feedback inhibition of the SREBP pathway in human fibroblasts

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

Long‐term survival outcomes of patients with Niemann‐Pick disease type C receiving miglustat treatment: A large retrospective observational study

Acat1/Soat1 knockout extends the mutant Npc1 mouse lifespan and ameliorates functional deficiencies in multiple organelles of mutant cells

A global evolutionary and metabolic analysis of human obesity gene risk variants

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

The C57BL/6J Niemann–Pick C1 mouse model with decreased gene dosage has impaired glucose tolerance independent of body weight

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

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

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

Niemann-Pick C1 expression is not regulated by the amount of cholesterol flowing through cells in the mouse

genetics of childhood obesity and interaction with dietary macronutrients

111 In-DANBIRT In Vivo Molecular Imaging of Inflammatory Cells in Atherosclerosis

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