What the Genetics of Lipodystrophy Can Teach Us About Insulin Resistance and Diabetes

PIK3R1 Mutations Cause Syndromic Insulin Resistance with Lipoatrophy

(2013) Christel Thauvin-Robinet et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Peroxisome Proliferator-Activated Receptor-γ Mutations Responsible for Lipodystrophy With Severe Hypertension Activate the Cellular Renin–Angiotensin System

(2013) Martine Auclair et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

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

(2013) Michael N Weedon et al.   NATURE GENETICS

Homozygous Lamin A/C familial lipodystrophy R482Q mutation in autosomal recessive Emery Dreifuss muscular dystrophy

(2013) Katie M. Wiltshire et al.   NEUROMUSCULAR DISORDERS

Partial lipodystrophy with severe insulin resistance and adult progeria Werner syndrome

(2013) Bruno Donadille et al.   Orphanet Journal of Rare Diseases

The secretory face of the adipose cell: A tribute to two queens, leptin and adiponectin

(2012) Jean-Philippe Bastard et al.   BIOCHIMIE

Controlling the size of lipid droplets: lipid and protein factors

(2012) Hongyuan Yang et al.   CURRENT OPINION IN CELL BIOLOGY

Lysophospholipid acyltransferases

(2012) Anil K. Agarwal   CURRENT OPINION IN LIPIDOLOGY

Alterations in Lipid Signaling Underlie Lipodystrophy Secondary to AGPAT2 Mutations

(2012) A. R. Subauste et al.   DIABETES

Phenotypic diversity in patients with lipodystrophy associated with LMNA mutations

(2012) Patricia B Mory et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Alleviation of seipinopathy-related ER stress by triglyceride storage

(2012) M. Holtta-Vuori et al.   HUMAN MOLECULAR GENETICS

Seipin: from human disease to molecular mechanism

(2012) Bethany R. Cartwright et al.   JOURNAL OF LIPID RESEARCH

The nuclear lamins: flexibility in function

(2012) Brian Burke et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Clinical trial of a farnesyltransferase inhibitor in children with Hutchinson-Gilford progeria syndrome

(2012) L. B. Gordon et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

LMNA Mutations Induce a Non-Inflammatory Fibrosis and a Brown Fat-Like Dystrophy of Enlarged Cervical Adipose Tissue

(2011) Véronique Béréziat et al.   AMERICAN JOURNAL OF PATHOLOGY

Cancer-Associated Adipocytes Exhibit an Activated Phenotype and Contribute to Breast Cancer Invasion

(2011) B. Dirat et al.   CANCER RESEARCH

Genetic Syndromes of Severe Insulin Resistance

(2011) Robert K. Semple et al.   ENDOCRINE REVIEWS

Molecular mechanisms of human lipodystrophies: From adipocyte lipid droplet to oxidative stress and lipotoxicity

(2011) Corinne Vigouroux et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

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)

(2011) Sheetal Gandotra et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A Homozygous Mutation of Prelamin-A Preventing Its Farnesylation and Maturation Leads to a Severe Lipodystrophic Phenotype: New Insights into the Pathogenicity of Nonfarnesylated Prelamin-A

(2011) Caroline Le Dour et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Lipodystrophies: Genetic and Acquired Body Fat Disorders

(2011) Abhimanyu Garg   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans

(2011) Akiko Kitamura et al.   JOURNAL OF CLINICAL INVESTIGATION

Nuclear lamins and laminopathies

(2011) Howard J. Worman   JOURNAL OF PATHOLOGY

Surgical management of phenotypic alterations related to the Dunnigan variety of familial partial Lipodystrophy

(2011) Davi Reis Calderoni et al.   Journal of Plastic Reconstructive and Aesthetic Surgery

Recapitulation of premature ageing with iPSCs from Hutchinson–Gilford progeria syndrome

(2011) Guang-Hui Liu et al.   NATURE

Perilipin Deficiency and Autosomal Dominant Partial Lipodystrophy

(2011) Sheetal Gandotra et al.   NEW ENGLAND JOURNAL OF MEDICINE

PSMB8 Encoding the β5i Proteasome Subunit Is Mutated in Joint Contractures, Muscle Atrophy, Microcytic Anemia, and Panniculitis-Induced Lipodystrophy Syndrome

(2010) Anil K. Agarwal et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The lipoatrophic caveolin-1 deficient mouse model reveals autophagy in mature adipocytes

(2010) Soazig Le Lay et al.   Autophagy

Lamin complexes in the nuclear interior control progenitor cell proliferation and tissue homeostasis

(2010) Nana Naetar et al.   CELL CYCLE

A Human iPSC Model of Hutchinson Gilford Progeria Reveals Vascular Smooth Muscle and Mesenchymal Stem Cell Defects

(2010) Jinqiu Zhang et al.   Cell Stem Cell

Cell death-inducing DFF45-like effector, a lipid droplet-associated protein, might be involved in the differentiation of human adipocytes

(2010) Fanfan Li et al.   FEBS Journal

Gluteofemoral body fat as a determinant of metabolic health

(2010) K N Manolopoulos et al.   INTERNATIONAL JOURNAL OF OBESITY

Higher Adiponectin Levels in Patients with Berardinelli-Seip Congenital Lipodystrophy due to Seipin as compared with 1-Acylglycerol-3-Phosphate-O-Acyltransferase-2 Deficiency

(2010) Barbara Antuna-Puente et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Adipose tissue lymphocytes: types and roles

(2010) S. Caspar-Bauguil et al.   JOURNAL OF PHYSIOLOGY AND BIOCHEMISTRY

Fatal Cardiac Arrhythmia and Long-QT Syndrome in a New Form of Congenital Generalized Lipodystrophy with Muscle Rippling (CGL4) Due to PTRF-CAVIN Mutations

(2010) Anna Rajab et al.   PLoS Genetics

Seipin deficiency alters fatty acid Δ9 desaturation and lipid droplet formation in Berardinelli-Seip congenital lipodystrophy

(2009) Emilie Boutet et al.   BIOCHIMIE

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

(2009) Oscar Rubio-Cabezas et al.   EMBO Molecular Medicine

Atypical Progeroid Syndrome due to Heterozygous MissenseLMNAMutations

(2009) Abhimanyu Garg et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy

(2009) Yukiko K. Hayashi et al.   JOURNAL OF CLINICAL INVESTIGATION

Lipid droplet analysis in caveolin-deficient adipocytes: alterations in surface phospholipid composition and maturation defects

(2009) Cédric M. Blouin et al.   JOURNAL OF LIPID RESEARCH

Functional implications of genetic variation in human PPARγ

(2009) Ellen H. Jeninga et al.   TRENDS IN ENDOCRINOLOGY AND METABOLISM

Fat and Beyond: The Diverse Biology of PPARγ

(2008) Peter Tontonoz et al.   Annual Review of Biochemistry

Seipinopathy: a novel endoplasmic reticulum stress-associated disease

(2008) Daisuke Ito et al.   BRAIN

PTRF-Cavin, a Conserved Cytoplasmic Protein Required for Caveola Formation and Function

(2008) Michelle M. Hill et al.   CELL

Adult stem cell maintenance and tissue regeneration in the ageing context: the role for A-type lamins as intrinsic modulators of ageing in adult stem cells and their niches

(2008) Vanja Pekovic et al.   JOURNAL OF ANATOMY

Fertility and Obstetrical Complications in Women withLMNA-Related Familial Partial Lipodystrophy

(2008) M. C. Vantyghem et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Association of a Homozygous Nonsense Caveolin-1 Mutation with Berardinelli-Seip Congenital Lipodystrophy

(2008) C. A. Kim et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Heterozygous CAV1 frameshift mutations (MIM 601047) in patients with atypical partial lipodystrophy and hypertriglyceridemia

(2008) Henian Cao et al.   Lipids in Health and Disease

Lamin A-dependent misregulation of adult stem cells associated with accelerated ageing

(2008) Paola Scaffidi et al.   NATURE CELL BIOLOGY