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Altered Energetics of Exercise Explain Risk of Rhabdomyolysis in Very Long-Chain Acyl-CoA Dehydrogenase Deficiency

PloS one, 2016-02, Vol.11 (2), p.e0147818-e0147818

2016

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Isoprenoid biosynthesis in hereditary periodic fever syndromes and inflammation

Cellular and molecular life sciences : CMLS, 2003-06, Vol.60 (6), p.1118-1134

2003

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Pyruvate dehydrogenase kinase 4 expression is synergistically induced by AMP-activated protein kinase and fatty acids

Cellular and molecular life sciences : CMLS, 2009-04, Vol.66 (7), p.1283-1294

2009

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Mutations in MVK , encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome

Nature genetics, 1999-06, Vol.22 (2), p.175-177

1999

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Overexpression of PLIN5 in skeletal muscle promotes oxidative gene expression and intramyocellular lipid content without compromising insulin sensitivity

Biochimica et biophysica acta, 2013-04, Vol.1831 (4), p.844-852

2013

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Clinical and molecular variability in childhood periodic fever with hyperimmunoglobulinaemia D

British journal of rheumatology, 2001-05, Vol.40 (5), p.579-584

2001

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Hyper IgD syndrome (HIDS) associated with in vitro evidence of defective monocyte TNFRSF1A shedding and partial response to TNF receptor blockade with etanercept

Clinical and experimental immunology, 2002-12, Vol.130 (3), p.484-488

2002

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Identification and Characterization of Three Novel Missense Mutations in Mevalonate Kinase cDNA Causing Mevalonic Aciduria, a Disorder of Isoprene Biosynthesis

Human molecular genetics, 1999-08, Vol.8 (8), p.1523-1528

1999

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Pioglitazone treatment restores in vivo muscle oxidative capacity in a rat model of diabetes

Diabetes, obesity & metabolism, 2015-01, Vol.17 (1), p.52-60

2015

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PGC-1 alpha Turbocharging mitochondria

Cell, 2004-10, Vol.119 (1), p.5-7

2004

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Increased mitochondrial content rescues in vivo muscle oxidative capacity in long-term high-fat-diet-fed rats

The FASEB journal, 2010-05, Vol.24 (5), p.1354-1364

2010

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Compensation by the Muscle Limits the Metabolic Consequences of Lipodystrophy in PPARγ Hypomorphic Mice

Proceedings of the National Academy of Sciences - PNAS, 2003-11, Vol.100 (24), p.14457-14462

2003

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Mevalonate kinase deficiency and Dutch type periodic fever

Clinical and experimental rheumatology, 2000-07, Vol.18 (4), p.525

2000

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Novel genotype of mevalonic aciduria with fatalities in premature siblings

Archives of disease in childhood. Fetal and neonatal edition, 2004-01, Vol.89 (1), p.F90-91

2004

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Temperature dependence of mutant mevalonate kinase activity as a pathogenic factor in Hyper-IgD and periodic fever syndrome

Human molecular genetics, 2002-12, Vol.11 (25), p.3115-3124

2002

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Molecular basis of classical mevalonic aciduria and the hyperimmunoglobulinaemia D and periodic fever syndrome: High frequency of 3 mutations in the mevalonate kinase gene

Journal of inherited metabolic disease, 2000-06, Vol.23 (4), p.367-370

2000

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Mevalonic aciduria in 12 unrelated patients with hyperimmunoglobulinaemia D and periodic fever syndrome

Journal of inherited metabolic disease, 2000-06, Vol.23 (4), p.363-366

2000

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Biochemical and genetic aspects of mevalonate kinase and its deficiency

BBA - Molecular and Cell Biology of Lipids, 2000-12, Vol.1529 (1), p.19-32

2000

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Endocrine functions of bile acids

The EMBO journal, 2006-04, Vol.25 (7), p.1419-1425

2006

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Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome

European journal of human genetics : EJHG, 2001-04, Vol.9 (4), p.253-259

2001

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An integrative multiomic network model links lipid metabolism to glucose regulation in coronary artery disease

Nature communications, 2021-01, Vol.12 (1), p.547-547, Article 547

2021

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Bile acids induce energy expenditure by promoting intracellular thyroid hormone activation

Nature, 2006-01, Vol.439 (7075), p.484-489

2006

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Nonorthologous Gene Displacement of Phosphomevalonate Kinase

Molecular genetics and metabolism, 2001-03, Vol.72 (3), p.273-276

2001

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Bile acids lower triglyceride levels via a pathway involving FXR, SHP, and SREBP-1c

The Journal of clinical investigation, 2004-05, Vol.113 (10), p.1408-1418

2004

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A mechanistic framework for cardiometabolic and coronary artery diseases

Nature Cardiovascular Research, 2022-01, Vol.1 (1), p.85-100

2022

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Altered Energetics of Exercise Explain Risk of Rhabdomyolysis in Very Long-Chain Acyl-CoA Dehydrogenase Deficiency

Isoprenoid biosynthesis in hereditary periodic fever syndromes and inflammation

Pyruvate dehydrogenase kinase 4 expression is synergistically induced by AMP-activated protein kinase and fatty acids

Mutations in MVK , encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome

Overexpression of PLIN5 in skeletal muscle promotes oxidative gene expression and intramyocellular lipid content without compromising insulin sensitivity

Clinical and molecular variability in childhood periodic fever with hyperimmunoglobulinaemia D

Hyper IgD syndrome (HIDS) associated with in vitro evidence of defective monocyte TNFRSF1A shedding and partial response to TNF receptor blockade with etanercept

Identification and Characterization of Three Novel Missense Mutations in Mevalonate Kinase cDNA Causing Mevalonic Aciduria, a Disorder of Isoprene Biosynthesis

Pioglitazone treatment restores in vivo muscle oxidative capacity in a rat model of diabetes

PGC-1 alpha Turbocharging mitochondria

Increased mitochondrial content rescues in vivo muscle oxidative capacity in long-term high-fat-diet-fed rats

Compensation by the Muscle Limits the Metabolic Consequences of Lipodystrophy in PPARγ Hypomorphic Mice

Mevalonate kinase deficiency and Dutch type periodic fever

Novel genotype of mevalonic aciduria with fatalities in premature siblings

Temperature dependence of mutant mevalonate kinase activity as a pathogenic factor in Hyper-IgD and periodic fever syndrome

Molecular basis of classical mevalonic aciduria and the hyperimmunoglobulinaemia D and periodic fever syndrome: High frequency of 3 mutations in the mevalonate kinase gene

Mevalonic aciduria in 12 unrelated patients with hyperimmunoglobulinaemia D and periodic fever syndrome

Biochemical and genetic aspects of mevalonate kinase and its deficiency

Endocrine functions of bile acids

Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome

An integrative multiomic network model links lipid metabolism to glucose regulation in coronary artery disease

Bile acids induce energy expenditure by promoting intracellular thyroid hormone activation

Nonorthologous Gene Displacement of Phosphomevalonate Kinase

Bile acids lower triglyceride levels via a pathway involving FXR, SHP, and SREBP-1c

A mechanistic framework for cardiometabolic and coronary artery diseases

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