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Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia.
Mandibuloacral dysplasia (MAD; OMIM 248370) is a rare, genetically and phenotypically heterogeneous, autosomal recessive disorder characterized by skeletal abnormalities including hypoplasia of theExpand
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Beneficial effects of high dietary fiber intake in patients with type 2 diabetes mellitus.
BACKGROUND The effect of increasing the intake of dietary fiber on glycemic control in patients with type 2 diabetes mellitus is controversial. METHODS In a randomized, crossover study, we assignedExpand
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The lipodystrophy protein seipin is found at endoplasmic reticulum lipid droplet junctions and is important for droplet morphology
Lipodystrophy is a disorder characterized by a loss of adipose tissue often accompanied by severe hypertriglyceridemia, insulin resistance, diabetes, and fatty liver. It can be inherited or acquired.Expand
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Evidence-based nutrition principles and recommendations for the treatment and prevention of diabetes and related complications.
Historically, nutrition principles and recommendations for diabetes and related complications have been based on scientific evidence and diabetes knowledge when available and, when evidence was notExpand
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Acquired and inherited lipodystrophies.
  • A. Garg
  • Medicine
  • The New England journal of medicine
  • 18 March 2004
Lipodystrophies, heterogeneous acquired or inherited disorders characterized by the selective loss of adipose tissue, predispose affected patients to insulin resistance and its attendantExpand
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Acquired and Inherited Lipodystrophies
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Leptin-replacement therapy for lipodystrophy.
BACKGROUND The adipocyte hormone leptin is important in regulating energy homeostasis. Since severe lipodystrophy is associated with leptin deficiency, insulin resistance, hypertriglyceridemia, andExpand
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Seipin is required for converting nascent to mature lipid droplets
How proteins control the biogenesis of cellular lipid droplets (LDs) is poorly understood. Using Drosophila and human cells, we show here that seipin, an ER protein implicated in LD biology, mediatesExpand
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Measurement of intracellular triglyceride stores by H spectroscopy: validation in vivo.
We validate the use of 1H magnetic resonance spectroscopy (MRS) to quantitatively differentiate between adipocyte and intracellular triglyceride (TG) stores by monitoring the TG methylene protonExpand
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Molecular mechanisms of hepatic steatosis and insulin resistance in the AGPAT2-deficient mouse model of congenital generalized lipodystrophy.
Mutations in 1-acylglycerol-3-phosphate-O-acyltransferase 2 (AGPAT2) cause congenital generalized lipodystrophy. To understand the molecular mechanisms underlying the metabolic complicationsExpand
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