D. Savage

发表

Disordered lipid metabolism and the pathogenesis of insulin resistance.

K. Petersen, G. Shulman, D. Savage, 2007, Physiological reviews.

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

Claude Bouchard, Beverley Balkau, Bengt Sennblad, 2012, Nature Genetics.

The UK10K project identifies rare variants in health and disease

Tom R. Gaunt, Hashem A. Shihab, Gail P. Clement, 2016 .

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

J. Perry, A. Spurdle, D. Easton, 2015, Journal of the National Cancer Institute.

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

X. Papademetris, K. Petersen, S. Dufour, 2007, Proceedings of the National Academy of Sciences.

Correlation of the leptin:adiponectin ratio with measures of insulin resistance in non-diabetic individuals

M. Walker, S. O’Rahilly, B. Balkau, 2009, Diabetologia.

Extreme phenotypes define epigenetic and metabolic signatures in cardiometabolic syndrome.

Paul D. W. Kirk, Matthew C. Sims, K. Downes, 2020 .

Ovarian Hyperandrogenism and Response to Gonadotropin-releasing Hormone Analogues in Primary Severe Insulin Resistance

S. O’Rahilly, M. Jimenez-Linan, Julie Harris, 2021, The Journal of clinical endocrinology and metabolism.

Association of Genetically Enhanced Lipoprotein Lipase–Mediated Lipolysis and Low-Density Lipoprotein Cholesterol–Lowering Alleles With Risk of Coronary Disease and Type 2 Diabetes

M. McCarthy, J. Perry, S. O’Rahilly, 2018, JAMA cardiology.

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

Sara M. Willems, M. McCarthy, P. Deloukas, 2016, JAMA.

European lipodystrophy registry: background and structure

R. Hennekam, G. Nagel, F. Santini, 2020, Orphanet Journal of Rare Diseases.

Long-term effectiveness and safety of metreleptin in the treatment of patients with partial lipodystrophy

P. Gorden, D. Savage, Rebecca J. Brown, 2019, Endocrine.

Recent developments in lipodystrophy.

D. Savage, A. Melvin, A. Stears, 2019, Current opinion in lipidology.

Surplus fat rapidly increases fat oxidation and insulin resistance in lipodystrophic mice

P. Murgatroyd, A. Vidal-Puig, S. Virtue, 2018, Molecular metabolism.

Genome-wide scan and fine-mapping of rare nonsynonymous associations implicates intracellular lipolysis genes in fat distribution and cardio-metabolic risk

M. McCarthy, Satish Patel, J. Perry, 2018, bioRxiv.

Chapter 22 – Syndromes of Severe Insulin Resistance and/or Lipodystrophy

S. O’Rahilly, D. Savage, R. Semple, 2016 .

Lipodystrophy: metabolic insights from a rare disorder.

S. O’Rahilly, D. Savage, A. Sleigh, 2010, The Journal of endocrinology.

Syndromes of Severe Insulin Resistance and/or Lipodystrophy

S. O’Rahilly, D. Savage, R. Semple, 2010 .

Understanding Causal Relationships in the Metabolic Syndrome: Recent Insights from Extreme Human Phenotypes

D. Savage, 2010 .

Mouse models of inherited lipodystrophy

D. Savage, 2009, Disease Models & Mechanisms.

Postreceptor insulin resistance contributes to human dyslipidemia and hepatic steatosis.

S. O’Rahilly, D. Lomas, P. Murgatroyd, 2009, The Journal of clinical investigation.

Fatty Acid Metabolism in Patients with PPAR Mutations

S. O’Rahilly, F. Karpe, B. Fielding, 2008 .

A clinical approach to severe insulin resistance.

S. O’Rahilly, D. Savage, V. Chatterjee, 2007, Endocrine development.

PPARγ as a metabolic regulator: insights from genomics and pharmacology

D. Savage, 2005, Expert Reviews in Molecular Medicine.

Energy expenditure and adaptive responses to an acute hypercaloric fat load in humans with lipodystrophy.

S. O’Rahilly, P. Murgatroyd, D. Savage, 2005, The Journal of clinical endocrinology and metabolism.

PPARγΔ5, a Naturally Occurring Dominant-Negative Splice Isoform, Impairs PPARγ Function and Adipocyte Differentiation.

A. Ciccodicola, M. Blüher, P. Formisano, 2018, Cell reports.

Fatty acid metabolism in patients with PPARgamma mutations.

S. O’Rahilly, F. Karpe, B. Fielding, 2008, The Journal of clinical endocrinology and metabolism.

Morbid obesity exposes the association between PNPLA3 I148M (rs738409) and indices of hepatic injury in individuals of European descent

M. Iacovino, S. O’Rahilly, G. Yeo, 2010, International Journal of Obesity.

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

G. Shulman, K. Morino, D. Savage, 2006, American journal of physiology. Endocrinology and metabolism.

Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity

Tom R. Gaunt, Thomas M. Keane, Hashem A. Shihab, 2017, Scientific Reports.

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

S. Wakil, G. Shulman, L. Abu-Elheiga, 2007, Proceedings of the National Academy of Sciences.

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

S. O’Rahilly, J. Berger, D. Moller, 2002, Endocrinology.

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

S. O’Rahilly, G. Lienhard, I. Barroso, 2009, Proceedings of the National Academy of Sciences.

Intrahepatic Lipid Content and Insulin Resistance Are More Strongly Associated with Impaired NEFA Suppression after Oral Glucose Loading Than with Fasting NEFA Levels in Healthy Older Individuals

C. Cooper, S. Sharp, N. Wareham, 2013, International journal of endocrinology.

Resistin / Fizz3 expression in relation to obesity and peroxisome proliferator-activated receptor-gamma action in humans.

S. O’Rahilly, A. Vidal-Puig, R. Considine, 2001, Diabetes.

Accumulation of saturated intramyocellular lipid is associated with insulin resistance[S]

C. Boesch, G. Kemp, S. Brage, 2019, Journal of Lipid Research.

Magnetic resonance spectroscopy analysis of intramyocellular lipid composition in lipodystrophic patients and athletes

C. Boesch, G. Kemp, S. Brage, 2018, bioRxiv.

Dual binding motifs underpin the hierarchical association of perilipins1–3 with lipid droplets

V. Saudek, M. Mimmack, A. Thiam, 2019, Molecular biology of the cell.

Perilipin deficiency and autosomal dominant partial lipodystrophy.

S. O’Rahilly, G. Charpentier, M. Lathrop, 2011, The New England journal of medicine.

Universitet Low-frequency variation in TP 53 has large effects on head circumference and intracranial

Tom R. Gaunt, Thomas M. Keane, Hashem A. Shihab, 2019 .

Low-frequency variation in TP53 has large effects on head circumference and intracranial volume

Tom R. Gaunt, Hashem A. Shihab, Gail P. Clement, 2018, bioRxiv.

X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3

Shane A. McCarthy, Richard D Emes, Klaudia Walter, 2017, Nature Communications.

Evaluation of human dermal fibroblasts directly reprogrammed to adipocyte-like cells as a metabolic disease model

D. Savage, T. Barrett, R. Semple, 2017, Disease Models & Mechanisms.

An amino acid profile to predict diabetes?

C. Langenberg, D. Savage, 2011, Nature Medicine.

Endogenous GDF15 and FGF21 additively alleviate hepatic steatosis and insulin resistance in obese mice

K. Small, S. O’Rahilly, M. Blüher, 2022, bioRxiv.

Compositional marker in vivo reveals intramyocellular lipid turnover during fasting-induced lipolysis

D. Dunger, C. Boesch, G. Kemp, 2018, Scientific Reports.

Rapid Publication Resistin / Fizz3 Expression in Relation to Obesity and Peroxisome Proliferator–Activated Receptor- Action in Humans

S. O’Rahilly, A. Vidal-Puig, R. Considine, 2001 .

Clinical and Molecular Characterization of a Novel PLIN1 Frameshift Mutation Identified in Patients With Familial Partial Lipodystrophy

S. O’Rahilly, V. Saudek, I. Barroso, 2014, Diabetes.

An Activating Mutation of AKT2 and Human Hypoglycemia

I. Barroso, F. Payne, D. Savage, 2011, Science.

Plasma Adiponectin as a Marker of Insulin Receptor Dysfunction

S. O’Rahilly, M. Soos, P. Gorden, 2008, Diabetes Care.

Identification of Rare Loss-of-Function Genetic Variation Regulating Body Fat Distribution

M. McCarthy, Satish Patel, C. A. Glastonbury, 2021, The Journal of clinical endocrinology and 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)*

S. O’Rahilly, V. Saudek, S. Gandotra, 2011, The Journal of Biological Chemistry.

31P magnetization transfer measurements of Pi→ATP flux in exercising human muscle

Guy B. Williams, G. Kemp, K. Brindle, 2016, Journal of applied physiology.

Inherited susceptibility to non-alcoholic fatty liver disease

D. Savage, R. Loos, David B. Savage, 2009, Diabetologia.

Suppression of Diacylglycerol Acyltransferase-2 (DGAT2), but Not DGAT1, with Antisense Oligonucleotides Reverses Diet-induced Hepatic Steatosis and Insulin Resistance*

G. Shulman, J. Geisler, G. Cline, 2007, Journal of Biological Chemistry.

A Pharmacogenetic Approach to the Treatment of Patients With PPARG Mutations

S. O’Rahilly, A. Majithia, J. Schwabe, 2018, Diabetes.

Long-term effectiveness and safety of metreleptin in the treatment of patients with generalized lipodystrophy

P. Gorden, D. Savage, Rebecca J. Brown, 2018, Endocrine.

Leptin: a novel therapeutic role in lipodystrophy.

S. O’Rahilly, D. Savage, 2002, The Journal of clinical investigation.

The genetics of lipid storage and human lipodystrophies.

D. Savage, Ann L. Robbins, Ann Robbins, 2015, Trends in molecular medicine.

Leptin therapy in lipodystrophy

S. O’Rahilly, D. Savage, Stephen O'Rahilly, 2010, Diabetologia.

Analysis of TBC1D4 in patients with severe insulin resistance

L. Groop, V. Lyssenko, S. Sharp, 2010, Diabetologia.

Genetic syndromes of severe insulin resistance.

S. O’Rahilly, P. Gorden, D. Savage, 2011, Endocrine reviews.

Sex hormone-binding globulin and risk of type 2 diabetes.

S. O’Rahilly, D. Savage, R. Semple, 2009, The New England journal of medicine.

IRS2 variants and syndromes of severe insulin resistance

I. Barroso, R. Temple, W. Bottomley, 2009, Diabetologia.

Human congenital perilipin deficiency and insulin resistance.

D. Savage, Satish Patel, Kristina Kozusko, 2013, Endocrine development.

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

V. Saudek, D. Savage, Wei Yang, 2014, Proceedings of the National Academy of Sciences.

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

Christian Gieger, Inês Barroso, Meena Kumari, 2011, Nature Genetics.

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

S. O’Rahilly, M. Gibney, E. Noone, 2002, Diabetes.

PCYT1A Regulates Phosphatidylcholine Homeostasis from the Inner Nuclear Membrane in Response to Membrane Stored Curvature Elastic Stress

Marcus K. Dymond, V. Saudek, R. Hardie, 2018, Developmental cell.

Accumulation of saturated intramyocellular lipid is associated with insulin resistance patient-oriented and epidemiological research

C. Boesch, S. Brage, D. Savage, 2019 .

P magnetization transfer measurements of Pi-> ATP flux in exercising human muscle 1 2

Guy B. Williams, G. Kemp, K. Brindle, 2015 .

Truncation of POC1A associated with short stature and extreme insulin resistance.

M. Segni, S. O’Rahilly, I. Barroso, 2015, Journal of molecular endocrinology.

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

S. O’Rahilly, M. Turman, P. Gorden, 2004, The Journal of clinical endocrinology and metabolism.

Steroid receptor coactivator-1 modulates the function of Pomc neurons and energy homeostasis

Tom R. Gaunt, Thomas M. Keane, Hashem A. Shihab, 2019, Nature Communications.

A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans

Gail Clement, Jie Huang, Antonio Ciampi, 2014, Nature Communications.

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

Inês Barroso, Mark I. McCarthy, Emmanouil T. Dermitzakis, 2016, Nature Genetics.

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

Inês Barroso, Stephen Burgess, Albert Koulman, 2016, PLoS medicine.

Prospective functional classification of all possible missense variants in PPARG

Inês Barroso, Ted Sharpe, Sekar Kathiresan, 2016, Nature Genetics.

Familial partial lipodystrophy linked to a novel peroxisome proliferator activator receptor ‐γ (PPARG) mutation, H449L: a comparison of people with this mutation and those with classic codon 482 Lamin A/C (LMNA) mutations

D. Savage, H. Onay, B. Akıncı, 2016, Diabetic medicine : a journal of the British Diabetic Association.

Combined genetic deletion of GDF15 and FGF21 has modest effects on body weight, hepatic steatosis and insulin resistance in high fat fed mice

K. Small, S. O’Rahilly, M. Blüher, 2022, Molecular metabolism.

Acquired generalized lipodystrophy associated with peripheral T cell lymphoma with cutaneous infiltration

D. Savage, I. Coulson, A. Aslam, 2015, International journal of dermatology.

Diagnostic Challenge in PLIN1-Associated Familial Partial Lipodystrophy

C. Vigouroux, M. Auclair, D. Savage, 2019, The Journal of clinical endocrinology and metabolism.

Roux-en-Y Gastric Bypass Surgery in the Management of Familial Partial Lipodystrophy Type 1

F. Rubino, S. O’Rahilly, F. Gribble, 2017, The Journal of clinical endocrinology and metabolism.

Lipase tug of war: PNPLA3 sequesters ABHD5 from ATGL

D. Savage, S. Romeo, 2019, Nature Metabolism.

Common Genetic Variants Highlight the Role of Insulin Resistance and Body Fat Distribution in Type 2 Diabetes, Independent of Obesity

M. McCarthy, L. Groop, D. van der A, 2014, Diabetes.

Edinburgh Research Explorer Non-DNA binding, dominant-negative, human PPARgamma mutations cause lipodystrophic insulin resistance

S. O’Rahilly, N. Wareham, I. Barroso, 2018 .

Low-frequency variation in TP53 has large effects on head circumference and intracranial volume

Tom R. Gaunt, Thomas M. Keane, Chin Yang Shapland, 2018, bioRxiv.

Perilipin 1 Antibodies in Patients With Acquired Generalized Lipodystrophy.

D. Savage, 2022, Diabetes.

Describing the natural history of clinical, biochemical and radiological outcomes of children with familial partial lipodystrophy type 2 (FPLD2) from the United Kingdom: A retrospective case series

S. O’Rahilly, Julie Harris, D. Savage, 2022, Clinical endocrinology.

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

Julie C. Sapp, S. O’Rahilly, L. Biesecker, 2012, Nature Genetics.

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

Sara M. Willems, M. McCarthy, P. Deloukas, 2016, JAMA.

Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

Tom R. Gaunt, Klaudia Walter, Nicholas J Timpson, 2015, Nature Communications.

GDF15 mediates the effects of metformin on body weight and energy balance

S. O’Rahilly, N. Wareham, G. Yeo, 2019, Nature.

Metabolic insights from extreme human insulin resistance phenotypes.

S. O’Rahilly, D. Savage, R. Semple, 2012, Best practice & research. Clinical endocrinology & metabolism.

Congenital syndromes of severe insulin resistance.

D. Savage, I. Huang-Doran, 2011, Pediatric endocrinology reviews : PER.

Transcriptional, epigenetic and metabolic signatures in cardiometabolic syndrome defined by extreme phenotypes

Christoph Bock, Maik Pietzner, Albert Koulman, 2020, bioRxiv.

Association of Genetic Variants Related to Gluteofemoral vs Abdominal Fat Distribution With Type 2 Diabetes, Coronary Disease, and Cardiovascular Risk Factors

J. Perry, V. Zuber, S. O’Rahilly, 2018, JAMA.

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

Tom R. Gaunt, Sara M. Willems, Toshiko Tanaka, 2016, Nature Communications.

What lipodystrophies teach us about the metabolic syndrome.

D. Savage, J. Mann, 2019, The Journal of clinical investigation.

Best Practice & Research Clinical Endocrinology & Metabolism

D. Savage, R. Semple, A. Stears, 2012 .

Gene-gene and gene-environment interactions in lipodystrophy: Lessons learned from natural PPARγ mutants.

E. Kalkhoven, D. Savage, H. Monajemi, 2019, Biochimica et biophysica acta. Molecular and cell biology of lipids.

The Metabolic Syndrome: Peroxisome Proliferator-Activated Receptor γ and Its Therapeutic Modulation

S. O’Rahilly, D. Savage, M. Gurnell, 2003 .

PCYT1A Regulates Phosphatidylcholine Homeostasis from the Inner Nuclear Membrane in Response to Membrane Stored Curvature Elastic Stress

Marcus K. Dymond, V. Saudek, R. Hardie, 2018, Developmental cell.

Non-DNA binding, dominant-negative, human PPARγ mutations cause lipodystrophic insulin resistance

S. O’Rahilly, N. Wareham, I. Barroso, 2006, Cell metabolism.

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

T. Willson, S. O’Rahilly, H. Xu, 2004, Endocrinology.

Potentiation of glucose uptake in 3T3-L1 adipocytes by PPAR gamma agonists is maintained in cells expressing a PPAR gamma dominant-negative mutant: evidence for selectivity in the downstream responses to PPAR gamma activation.

S. O’Rahilly, D. Savage, V. Chatterjee, 2001, Molecular endocrinology.

PLIN1 Haploinsufficiency Is Not Associated With Lipodystrophy

M. Weedon, A. Hattersley, S. Ellard, 2018, The Journal of clinical endocrinology and metabolism.

Abdominal subcutaneous adipose tissue morphology in a patient with a dominant-negative mutation (P467L) in the nuclear receptor peroxisome proliferator-activated receptor-gamma (PPARG) gene.

S. O’Rahilly, A. Vidal-Puig, D. Savage, 2010, Nutrition, metabolism, and cardiovascular diseases : NMCD.

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

Jimmy D Bell, S. O’Rahilly, Elizabeth Louise Thomas, 2003, Diabetes.

Digenic inheritance of severe insulin resistance in a human pedigree

Jimmy D Bell, S. O’Rahilly, N. Wareham, 2002, Nature Genetics.

Induction of Adipocyte Complement-related Protein of 30 Kilodaltons by Ppar␥ Agonists: a Potential Mechanism of Insulin Sensitization

S. O’Rahilly, J. Berger, D. Moller, 2022 .

Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity

Tom R. Gaunt, Thomas M. Keane, Hashem A. Shihab, 2017, Scientific Reports.

Seipin is required for converting nascent to mature lipid droplets

Christer S. Ejsing, Robert V Farese, N. Perrimon, 2016, eLife.

UK 10 K Consortium

Tom R. Gaunt, Hashem A. Shihab, Gail P. Clement, 2019 .

A Prevalent Variant in PPP1R3A Impairs Glycogen Synthesis and Reduces Muscle Glycogen Content in Humans and Mice

S. O’Rahilly, G. Shulman, N. Wareham, 2008, PLoS medicine.

A Prevalent Variant in PPP 1 R 3 A Impairs Glycogen Synthesis and Reduces Muscle Glycogen Content in Humans and Mice

S. O’Rahilly, G. Shulman, N. Wareham, 2008 .

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

Shane A. McCarthy, R. Durbin, Klaudia Walter, 2016, Nature Communications.

Insulin resistance uncoupled from dyslipidemia due to C-terminal PIK3R1 mutations

S. O’Rahilly, M. Dattani, I. Barroso, 2016, JCI insight.

Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression

T. Hansen, O. Pedersen, S. O’Rahilly, 2017, eLife.

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

S. O’Rahilly, Yali Xue, V. Saudek, 2014, Proceedings of the National Academy of Sciences.

Identification of rare loss of function variation regulating body fat distribution

J. Perry, C. A. Glastonbury, K. Small, 2021, medRxiv.

Mechanistic insights revealed by lipid profiling in monogenic insulin resistance syndromes

S. O’Rahilly, M. Eiden, J. Griffin, 2015, Genome Medicine.

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

M. Weedon, A. Hattersley, K. Kos, 2013, Nature Genetics.

Lipodystrophy: A paradigm for understanding the consequences of "overloading" adipose tissue.

D. Savage, A. Sleigh, C. Adams, 2020, Physiological reviews.

Hypomorphism in human NSMCE 2 linked to primordial dwarfism and insulin resistance

S. O’Rahilly, V. Saudek, I. Barroso, 2014 .

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.

Fredrik Karpe, Ulf Risérus, S. O’Rahilly, 2005, Diabetes.

Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance.

S. O’Rahilly, V. Saudek, I. Barroso, 2014, The Journal of clinical investigation.

Mechanisms of insulin resistance in humans and possible links with inflammation.

K. Petersen, G. Shulman, D. Savage, 2005, Hypertension.

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

G. Shulman, J. Geisler, G. Cline, 2006, The Journal of clinical investigation.

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

K. Petersen, S. Dufour, D. Befroy, 2010, The Journal of clinical investigation.

TCF7L2 Polymorphisms Modulate Proinsulin Levels and β-Cell Function in a British Europid Population

Inês Barroso, Nicholas J Wareham, Paul W Franks, 2007, Diabetes.

Familial partial lipodystrophy associated with compound heterozygosity for novel mutations in the LMNA gene

Jimmy D Bell, Elizabeth Louise Thomas, I. Barroso, 2004, Diabetologia.

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

D. Savage, R. Semple, 2010, Current opinion in lipidology.

“We're stuck with what we've got”: The impact of lipodystrophy on body image

D. Savage, C. Deaton, C. Adams, 2018, Journal of clinical nursing.

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

G. Bray, L. Redman, S. O’Rahilly, 2019, Cell Metabolism.

Phenotypic characterization of Adig null mice suggests roles for adipogenin in the regulation of fat mass accrual and leptin secretion

S. O’Rahilly, V. Saudek, D. Savage, 2021, Cell reports.

Early Diagnosis of Werner's Syndrome Using Exome-Wide Sequencing in a Single, Atypical Patient

S. O’Rahilly, A. Palotie, C. Scott, 2011, Front. Endocrin..

Digenic inheritance of severe insulin resistance in a human pedigree

S. O’Rahilly, N. Wareham, I. Barroso, 2002, Nature Genetics.

Randomized controlled trial of the efficacy of aerobic exercise in reducing metabolic risk in healthy older people: The Hertfordshire Physical Activity Trial

U. Ekelund, C. Cooper, S. Sharp, 2009, BMC endocrine disorders.

The architecture of Cidec-mediated interfaces between lipid droplets

J. Boulanger, D. Savage, W. Kukulski, 2021, bioRxiv.

Simple and effective exercise design for assessing in vivo mitochondrial function in clinical applications using 31P magnetic resonance spectroscopy

D. Dunger, V. Lupson, D. Savage, 2016, Scientific Reports.

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

V. Saudek, M. Mimmack, A. Thiam, 2016, The Journal of Biological Chemistry.

Lipid droplet-organelle interactions: emerging roles in lipid metabolism.

D. Savage, S. Siniossoglou, A. Barbosa, 2015, Current opinion in cell biology.

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

G. Bray, L. Redman, S. O’Rahilly, 2019, Cell metabolism.

An approach to quantifying abnormalities in energy expenditure and lean mass in metabolic disease

P. Murgatroyd, D. Savage, V. Chatterjee, 2013, European Journal of Clinical Nutrition.

Compartmentalized Synthesis of Triacylglycerol at the Inner Nuclear Membrane Regulates Nuclear Organization

M. Schuldiner, P. Sterk, A. Koulman, 2019, Developmental cell.

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

S. O’Rahilly, V. Saudek, P. Murgatroyd, 2009, EMBO molecular medicine.

Mitochondrial dysfunction in patients with primary congenital insulin resistance.

S. O’Rahilly, G. Kemp, S. Brage, 2011, The Journal of clinical investigation.

The effects of aerobic exercise on metabolic risk, insulin sensitivity and intrahepatic lipid in healthy older people from the Hertfordshire Cohort Study: a randomised controlled trial

U. Ekelund, S. Sharp, S. Brage, 2010, Diabetologia.

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

J. Argente, Jing Ye, K. Jeong, 2015, Nature Communications.

European paediatric non-alcoholic fatty liver disease registry (EU-PNAFLD): Design and rationale.

S. O’Rahilly, D. Savage, P. Socha, 2018, Contemporary clinical trials.

Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

Gail Clement, Jie Huang, Inês Barroso, 2016, Nature Communications.

Investigation of clinical characteristics and genome associations in the ‘UK Lipoedema’ cohort

D. Savage, A. Pittman, G. Brice, 2021, medRxiv.

Complement abnormalities in acquired lipodystrophy revisited.

Kenneth G. C. Smith, S. O’Rahilly, M. Clatworthy, 2009, The Journal of clinical endocrinology and metabolism.

Common genetic variants highlight the role of insulin resistance and body fat 1 distribution in type 2 diabetes , independently of obesity

T. Frayling, M. Walker, M. Schulze, 2015 .

Mitochondrial Oxidative Phosphorylation Is Impaired in Patients with Congenital Lipodystrophy

Soren Brage, Peter R. Murgatroyd, S. O’Rahilly, 2012, The Journal of clinical endocrinology and metabolism.

GDF15 and the beneficial actions of metformin in pre-diabetes

M. Chen, S. O’Rahilly, N. Sattar, 2019, bioRxiv.

The UK10K project identifies rare variants in health and disease

Tom R. Gaunt, Thomas M. Keane, Hashem A. Shihab, 2015, Nature.

Genetic syndromes of severe insulin resistance.

S. O’Rahilly, D. Savage, A. Melvin, 2018, Current opinion in genetics & development.

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

Tom R. Gaunt, Thomas M. Keane, Colin A. Johnson, 2015, Nature Communications.

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

Bjarni V. Halldórsson, D. Kiel, C. Gieger, 2011, Nature genetics.

A mouse model of human mitofusin-2-related lipodystrophy exhibits adipose-specific mitochondrial stress and reduced leptin secretion

Satish Patel, J. Prudent, S. Virtue, 2022, bioRxiv.

GDF15 mediates the effects of metformin on body weight and energy balance

S. O’Rahilly, K. Nair, N. Wareham, 2019, Nature.

Induction of Adipocyte Complement-Related Protein of 30 Kilodaltons by PPARγ Agonists: A Potential Mechanism of Insulin Sensitization.

S. O’Rahilly, J. Berger, D. Moller, 2002, Endocrinology.

Fatty Acid Metabolism in Patients with PPAR gamma Mutations

S. O’Rahilly, F. Karpe, B. Fielding, 2008 .

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

Andrew D. Johnson, Kyle J. Gaulton, Sara M. Willems, 2016, Nature Genetics.

Fatty acid metabolism in patients with PPARgamma mutations.

S. O’Rahilly, F. Karpe, B. Fielding, 2008, The Journal of clinical endocrinology and metabolism.

Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

Tom R. Gaunt, Thomas M. Keane, Hashem A. Shihab, 2015, Nature Communications.

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

X. Papademetris, K. Petersen, S. Dufour, 2007 .