List of works - David B Savage

Disordered lipid metabolism and the pathogenesis of insulin resistance

scientific article

A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance

scientific article published on 13 May 2012

The role of skeletal muscle insulin resistance in the pathogenesis of the metabolic syndrome

scholarly article

Reversal of diet-induced hepatic steatosis and hepatic insulin resistance by antisense oligonucleotide inhibitors of acetyl-CoA carboxylases 1 and 2.

scientific article published on 16 February 2006

Induction of adipocyte complement-related protein of 30 kilodaltons by PPARgamma agonists: a potential mechanism of insulin sensitization

scientific article published on March 2002

Human metabolic syndrome resulting from dominant-negative mutations in the nuclear receptor peroxisome proliferator-activated receptor-gamma

scientific article published in April 2003

Suppression of diacylglycerol acyltransferase-2 (DGAT2), but not DGAT1, with antisense oligonucleotides reverses diet-induced hepatic steatosis and insulin resistance

scientific journal article

Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile

scientific article published on 26 June 2011

Continuous fat oxidation in acetyl-CoA carboxylase 2 knockout mice increases total energy expenditure, reduces fat mass, and improves insulin sensitivity

scholarly article

Postreceptor insulin resistance contributes to human dyslipidemia and hepatic steatosis

scientific article published on 26 January 2009

Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA

scientific article

New susceptibility loci associated with kidney disease in type 1 diabetes

scientific article

Integrative genomic analysis implicates limited peripheral adipose storage capacity in the pathogenesis of human insulin resistance

scientific article

Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation in CIDEC

scientific article

Genetic Syndromes of Severe Insulin Resistance

scientific article (publication date: August 2011)

Mechanisms of insulin resistance in humans and possible links with inflammation

scientific article

TCF7L2 polymorphisms modulate proinsulin levels and beta-cell function in a British Europid population

scientific article published on 06 April 2007

Association Between Low-Density Lipoprotein Cholesterol-Lowering Genetic Variants and Risk of Type 2 Diabetes: A Meta-analysis

scientific article published on October 2016

Perilipin deficiency and autosomal dominant partial lipodystrophy

scientific article published on February 2011

Lipodystrophy: metabolic insights from a rare disorder

scientific article published on September 24, 2010

Common genetic variants highlight the role of insulin resistance and body fat distribution in type 2 diabetes, independent of obesity

scientific article

Genetic Predisposition to an Impaired Metabolism of the Branched-Chain Amino Acids and Risk of Type 2 Diabetes: A Mendelian Randomisation Analysis

scientific article

The metabolic syndrome: peroxisome proliferator-activated receptor gamma and its therapeutic modulation

scientific article

Isomer-dependent metabolic effects of conjugated linoleic acid: insights from molecular markers sterol regulatory element-binding protein-1c and LXRalpha

scientific article

Prospective functional classification of all possible missense variants in PPARG.

scientific article published on 17 October 2016

Seipin is required for converting nascent to mature lipid droplets

scientific article

Rosiglitazone increases indexes of stearoyl-CoA desaturase activity in humans: link to insulin sensitization and the role of dominant-negative mutation in peroxisome proliferator-activated receptor-gamma

scientific article published in May 2005

An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy

scientific article

Mitochondrial dysfunction in patients with primary congenital insulin resistance

scientific article

Digenic inheritance of severe insulin resistance in a human pedigree

scientific article

Resistance to thyroid hormone is associated with raised energy expenditure, muscle mitochondrial uncoupling, and hyperphagia

scientific article

Mouse models of inherited lipodystrophy

scientific article

Lipid droplet-organelle interactions: emerging roles in lipid metabolism

scientific article published on 15 May 2015

Human frame shift mutations affecting the carboxyl terminus of perilipin increase lipolysis by failing to sequester the adipose triglyceride lipase (ATGL) coactivator AB-hydrolase-containing 5 (ABHD5)

scientific article

Recent insights into fatty liver, metabolic dyslipidaemia and their links to insulin resistance

scientific article published on August 2010

A truncation mutation in TBC1D4 in a family with acanthosis nigricans and postprandial hyperinsulinemia.

scholarly article

Mutations disrupting the Kennedy phosphatidylcholine pathway in humans with congenital lipodystrophy and fatty liver disease

scientific article

Evidence of a Causal Association Between Insulinemia and Endometrial Cancer: A Mendelian Randomization Analysis

scientific article

Genome-wide meta-analysis uncovers novel loci influencing circulating leptin levels

scientific article published on February 2016

Activation of the farnesoid X receptor improves lipid metabolism in combined hyperlipidemic hamsters

scientific article

PPAR gamma as a metabolic regulator: insights from genomics and pharmacology

scientific article

Plasma Adiponectin as a Marker of Insulin Receptor Dysfunction: Clinical utility in severe insulin resistance

scientific article published on 25 February 2008

Proteinuric nephropathy in acquired and congenital generalized lipodystrophy: baseline characteristics and course during recombinant leptin therapy

scientific article published in July 2004

Insulin resistance and white adipose tissue inflammation are uncoupled in energetically challenged Fsp27-deficient mice

scientific article

Conserved Amphipathic Helices Mediate Lipid Droplet Targeting of Perilipins 1-3

scientific article

Complement abnormalities in acquired lipodystrophy revisited

scientific article published on 14 October 2008

Perilipins 2 and 3 lack a carboxy-terminal domain present in perilipin 1 involved in sequestering ABHD5 and suppressing basal lipolysis

scientific article

Tyrosine agonists reverse the molecular defects associated with dominant-negative mutations in human peroxisome proliferator-activated receptor gamma.

scientific article published on 4 December 2003

GDF15 Provides an Endocrine Signal of Nutritional Stress in Mice and Humans

scientific article published on 10 January 2019

The genetics of lipid storage and human lipodystrophies

scientific article published on 12 May 2015

List of works by David B Savage

Disordered lipid metabolism and the pathogenesis of insulin resistance

A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance

The role of skeletal muscle insulin resistance in the pathogenesis of the metabolic syndrome

Reversal of diet-induced hepatic steatosis and hepatic insulin resistance by antisense oligonucleotide inhibitors of acetyl-CoA carboxylases 1 and 2.

Induction of adipocyte complement-related protein of 30 kilodaltons by PPARgamma agonists: a potential mechanism of insulin sensitization

Human metabolic syndrome resulting from dominant-negative mutations in the nuclear receptor peroxisome proliferator-activated receptor-gamma

Suppression of diacylglycerol acyltransferase-2 (DGAT2), but not DGAT1, with antisense oligonucleotides reverses diet-induced hepatic steatosis and insulin resistance

Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile

Continuous fat oxidation in acetyl-CoA carboxylase 2 knockout mice increases total energy expenditure, reduces fat mass, and improves insulin sensitivity

Postreceptor insulin resistance contributes to human dyslipidemia and hepatic steatosis

Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA

New susceptibility loci associated with kidney disease in type 1 diabetes

Integrative genomic analysis implicates limited peripheral adipose storage capacity in the pathogenesis of human insulin resistance

Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation in CIDEC

Genetic Syndromes of Severe Insulin Resistance

Mechanisms of insulin resistance in humans and possible links with inflammation

TCF7L2 polymorphisms modulate proinsulin levels and beta-cell function in a British Europid population

Association Between Low-Density Lipoprotein Cholesterol-Lowering Genetic Variants and Risk of Type 2 Diabetes: A Meta-analysis

Perilipin deficiency and autosomal dominant partial lipodystrophy

Lipodystrophy: metabolic insights from a rare disorder

Common genetic variants highlight the role of insulin resistance and body fat distribution in type 2 diabetes, independent of obesity

Genetic Predisposition to an Impaired Metabolism of the Branched-Chain Amino Acids and Risk of Type 2 Diabetes: A Mendelian Randomisation Analysis

The metabolic syndrome: peroxisome proliferator-activated receptor gamma and its therapeutic modulation

Isomer-dependent metabolic effects of conjugated linoleic acid: insights from molecular markers sterol regulatory element-binding protein-1c and LXRalpha

Prospective functional classification of all possible missense variants in PPARG.

Seipin is required for converting nascent to mature lipid droplets

Rosiglitazone increases indexes of stearoyl-CoA desaturase activity in humans: link to insulin sensitization and the role of dominant-negative mutation in peroxisome proliferator-activated receptor-gamma

An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy

Mitochondrial dysfunction in patients with primary congenital insulin resistance

Digenic inheritance of severe insulin resistance in a human pedigree

Resistance to thyroid hormone is associated with raised energy expenditure, muscle mitochondrial uncoupling, and hyperphagia

Mouse models of inherited lipodystrophy

Lipid droplet-organelle interactions: emerging roles in lipid metabolism

Human frame shift mutations affecting the carboxyl terminus of perilipin increase lipolysis by failing to sequester the adipose triglyceride lipase (ATGL) coactivator AB-hydrolase-containing 5 (ABHD5)

Recent insights into fatty liver, metabolic dyslipidaemia and their links to insulin resistance

A truncation mutation in TBC1D4 in a family with acanthosis nigricans and postprandial hyperinsulinemia.

Mutations disrupting the Kennedy phosphatidylcholine pathway in humans with congenital lipodystrophy and fatty liver disease

Evidence of a Causal Association Between Insulinemia and Endometrial Cancer: A Mendelian Randomization Analysis

Genome-wide meta-analysis uncovers novel loci influencing circulating leptin levels

Activation of the farnesoid X receptor improves lipid metabolism in combined hyperlipidemic hamsters

PPAR gamma as a metabolic regulator: insights from genomics and pharmacology

Plasma Adiponectin as a Marker of Insulin Receptor Dysfunction: Clinical utility in severe insulin resistance

Proteinuric nephropathy in acquired and congenital generalized lipodystrophy: baseline characteristics and course during recombinant leptin therapy

Insulin resistance and white adipose tissue inflammation are uncoupled in energetically challenged Fsp27-deficient mice

Conserved Amphipathic Helices Mediate Lipid Droplet Targeting of Perilipins 1-3

Complement abnormalities in acquired lipodystrophy revisited

Perilipins 2 and 3 lack a carboxy-terminal domain present in perilipin 1 involved in sequestering ABHD5 and suppressing basal lipolysis

Tyrosine agonists reverse the molecular defects associated with dominant-negative mutations in human peroxisome proliferator-activated receptor gamma.

GDF15 Provides an Endocrine Signal of Nutritional Stress in Mice and Humans

The genetics of lipid storage and human lipodystrophies