Congenital generalized lipodystrophies—new insights into metabolic dysfunction

Keppen-Lubinsky Syndrome Is Caused by Mutations in the Inwardly Rectifying K+ Channel Encoded by KCNJ6

(2015) Andrea Masotti et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Seipin is necessary for normal brain development and spermatogenesis in addition to adipogenesis

(2015) Chihiro Ebihara et al.   HUMAN MOLECULAR GENETICS

Partial and Generalized Lipodystrophy: Comparison of Baseline Characteristics and Response to Metreleptin

(2015) Talia Diker-Cohen et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Farnesoid X nuclear receptor ligand obeticholic acid for non-cirrhotic, non-alcoholic steatohepatitis (FLINT): a multicentre, randomised, placebo-controlled trial

(2015) Brent A Neuschwander-Tetri et al.   LANCET

Seipin performs dissectible functions in promoting lipid droplet biogenesis and regulating droplet morphology

(2015) Bethany R. Cartwright et al.   MOLECULAR BIOLOGY OF THE CELL

Seipin oligomers can interact directly with AGPAT2 and lipin 1, physically scaffolding critical regulators of adipogenesis

(2015) Md. Mesbah Uddin Talukder et al.   Molecular Metabolism

The Clinical Approach to the Detection of Lipodystrophy – An AACE Consensus Statement

(2015) Yehuda Handelsman et al.   Endocrine Practice

De novo heterozygousFBN1mutations in the extreme C-terminal region cause progeroid fibrillinopathy

(2014) Abhimanyu Garg et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy

(2014) Jens Schuster et al.   BMC Medical Genetics

A Novel LIPE Nonsense Mutation Found Using Exome Sequencing in Siblings With Late-Onset Familial Partial Lipodystrophy

(2014) Sali M.K. Farhan et al.   CANADIAN JOURNAL OF CARDIOLOGY

Congenital Lipodystrophies and Dyslipidemias

(2014) Xavier Prieur et al.   Current Atherosclerosis Reports

Caveolin-1 Expression and Cavin Stability Regulate Caveolae Dynamics in Adipocyte Lipid Store Fluctuation

(2014) N. Briand et al.   DIABETES

Adipose-Specific Knockout of Seipin/Bscl2 Results in Progressive Lipodystrophy

(2014) L. Liu et al.   DIABETES

Effects of Leptin Replacement Therapy on Pancreatic β-Cell Function in Patients With Lipodystrophy

(2014) Ranganath Muniyappa et al.   DIABETES CARE

Molecular Mechanisms Underlying Fasting Modulated Liver Insulin Sensitivity and Metabolism in Male LipodystrophicBscl2/Seipin-Deficient Mice

(2014) Weiqin Chen et al.   ENDOCRINOLOGY

Biallelic mutations at PPARG cause a congenital, generalized lipodystrophy similar to the Berardinelli–Seip syndrome

(2014) D.A. Dyment et al.   European Journal of Medical Genetics

Polymerase I and transcript release factor (PTRF) regulates adipocyte differentiation and determines adipose tissue expandability

(2014) Sergio Perez-Diaz et al.   FASEB JOURNAL

Hepatic Gluconeogenesis Is Enhanced by Phosphatidic Acid Which Remains Uninhibited by Insulin in LipodystrophicAgpat2−/−Mice

(2014) Shireesha Sankella et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Pleiotropic Effects of Cavin-1 Deficiency on Lipid Metabolism

(2014) Shi-Ying Ding et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Bone Mineral Content in Patients With Congenital Generalized Lipodystrophy Is Unaffected by Metreleptin Replacement Therapy

(2014) John D. Christensen et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Identification of a novel mutation in the polymerase delta 1 (POLD1) gene in a lipodystrophic patient affected by mandibular hypoplasia, deafness, progeroid features (MDPL) syndrome

(2014) Caterina Pelosini et al.   METABOLISM-CLINICAL AND EXPERIMENTAL

Divergent Metabolic Phenotype between Two Sisters with Congenital Generalized Lipodystrophy Due to Double AGPAT2 Homozygous Mutations. A Clinical, Genetic and In Silico Study

(2014) Víctor A. Cortés et al.   PLoS One

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

(2014) F. Payne et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Lack of testicular seipin causes teratozoospermia syndrome in men

(2014) M. Jiang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Hutchinson-Gilford progeria syndrome through the lens of transcription

(2013) Miron Prokocimer et al.   AGING CELL

PIK3R1 Mutations Cause Syndromic Insulin Resistance with Lipoatrophy

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

Mutations in PIK3R1 Cause SHORT Syndrome

(2013) David A. Dyment et al.   AMERICAN JOURNAL OF HUMAN GENETICS

SHORT Syndrome with Partial Lipodystrophy Due to Impaired Phosphatidylinositol 3 Kinase Signaling

(2013) Kishan Kumar Chudasama et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Angptl3 Deficiency Is Associated With Increased Insulin Sensitivity, Lipoprotein Lipase Activity, and Decreased Serum Free Fatty Acids

(2013) Marius R. Robciuc et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

Novel PTRF mutation in a child with mild myopathy and very mild congenital lipodystrophy

(2013) Anna Ardissone et al.   BMC Medical Genetics

Analysis of naturally occurring mutations in the human lipodystrophy protein seipin reveals multiple potential pathogenic mechanisms

(2013) M. F. Michelle Sim et al.   DIABETOLOGIA

Thiazolidinediones partially reverse the metabolic disturbances observed in Bscl2/seipin-deficient mice

(2013) X. Prieur et al.   DIABETOLOGIA

Metreleptin: First Global Approval

(2013) Ken Chou et al.   DRUGS

BSCL2/seipin regulates adipogenesis through actin cytoskeleton remodelling

(2013) Wulin Yang et al.   HUMAN MOLECULAR GENETICS

The liver diseases of lipodystrophy: The long-term effect of leptin treatment

(2013) Elika Safar Zadeh et al.   JOURNAL OF HEPATOLOGY

Exploring the pathophysiology behind the more common genetic and acquired lipodystrophies

(2013) Tom Nolis   JOURNAL OF HUMAN GENETICS

Leptin ameliorates insulin resistance and hepatic steatosis inAgpat2−/−lipodystrophic mice independent of hepatocyte leptin receptors

(2013) Víctor A. Cortés et al.   JOURNAL OF LIPID RESEARCH

A new seipin-associated neurodegenerative syndrome

(2013) Encarna Guillén-Navarro et al.   JOURNAL OF MEDICAL GENETICS

A mutation in the c-Fos gene associated with congenital generalized lipodystrophy

(2013) Birgit Knebel et al.   Orphanet Journal of Rare Diseases

Partial lipodystrophy with severe insulin resistance and adult progeria Werner syndrome

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

Altered Lipid Metabolism in Residual White Adipose Tissues of Bscl2 Deficient Mice

(2013) Weiqin Chen et al.   PLoS One

Altered Mitochondrial Function and Metabolic Inflexibility Associated with Loss of Caveolin-1

(2012) Ingrid Wernstedt Asterholm et al.   Cell Metabolism

Whole Exome Sequencing to Identify a Novel Gene (Caveolin-1) Associated With Human Pulmonary Arterial Hypertension

(2012) Eric D. Austin et al.   Circulation-Cardiovascular Genetics

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

An unusual cause of delayed puberty: Berardinelli-Seip syndrome

(2012) Vimal Upreti et al.   JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM

Berardinelli-Seip Congenital Lipodystrophy 2/Seipin Is a Cell-Autonomous Regulator of Lipolysis Essential for Adipocyte Differentiation

(2012) W. Chen et al.   MOLECULAR AND CELLULAR BIOLOGY

Pregnancy in a Woman With Congenital Generalized Lipodystrophy

(2012) Marcy Maguire et al.   OBSTETRICS AND GYNECOLOGY

The human lipodystrophy protein seipin is an ER membrane adaptor for the adipogenic PA phosphatase lipin 1

(2012) M.F. Michelle Sim et al.   Molecular Metabolism

Caveolin-1 Deficiency Causes Cholesterol-Dependent Mitochondrial Dysfunction and Apoptotic Susceptibility

(2011) Marta Bosch et al.   CURRENT BIOLOGY

Clinical Effects of Long-Term Metreleptin Treatment in Patients with Lipodystrophy

(2011) Jean Chan et al.   Endocrine Practice

Seipin ablation in mice results in severe generalized lipodystrophy

(2011) X. Cui et al.   HUMAN MOLECULAR GENETICS

Human 1-Acylglycerol-3-phosphateO-Acyltransferase Isoforms 1 and 2

(2011) Anil K. Agarwal et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Lipodystrophies: Genetic and Acquired Body Fat Disorders

(2011) Abhimanyu Garg   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Insulin Resistance Is a Sufficient Basis for Hyperandrogenism in Lipodystrophic Women with Polycystic Ovarian Syndrome

(2011) Andreea O. Lungu et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Obesity, insulin resistance and free fatty acids

(2011) Guenther Boden   Current Opinion in Endocrinology Diabetes and Obesity

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

Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24

(2010) Zahid Ahmad et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Congenital generalized lipodystrophy, type 4 (CGL4) associated with myopathy due to novel PTRF mutations

(2010) Savitha Shastry et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Anormalidades cardiovasculares e metabólicas em pacientes com a síndrome de Berardinelli-Seip

(2010) Antonio Guedes do Rêgo et al.   Arquivos Brasileiros de Cardiologia

Rationale for Leptin-Replacement Therapy for Severe Lipodystrophy

(2010) Elif Oral et al.   Endocrine Practice

Clinical Classification and Treatment of Congenital and Acquired Lipodystrophy

(2010) Jean Chan et al.   Endocrine Practice

A Novel Syndrome of Mandibular Hypoplasia, Deafness, and Progeroid Features Associated with Lipodystrophy, Undescended Testes, and Male Hypogonadism

(2010) Savitha Shastry et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

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

Enzymatic activity of the human 1-acylglycerol-3-phosphate-O-acyltransferase isoform 11: upregulated in breast and cervical cancers

(2010) Anil K. Agarwal et al.   JOURNAL OF LIPID RESEARCH

A Japanese child with asymptomatic elevation of serum creatine kinase shows PTRF-CAVIN mutation matching with congenital generalized lipodystrophy type 4

(2010) Ery Kus Dwianingsih et al.   MOLECULAR GENETICS AND METABOLISM

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

Biochemistry, physiology, and genetics of GPAT, AGPAT, and lipin enzymes in triglyceride synthesis

(2009) Kazuharu Takeuchi et al.   AMERICAN JOURNAL OF PHYSIOLOGY-ENDOCRINOLOGY AND METABOLISM

Lipodystrophies: Disorders of adipose tissue biology

(2009) Abhimanyu Garg et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

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

(2009) Emilie Boutet et al.   BIOCHIMIE

Molecular Mechanisms of Hepatic Steatosis and Insulin Resistance in the AGPAT2-Deficient Mouse Model of Congenital Generalized Lipodystrophy

(2009) Víctor A. Cortés et al.   Cell Metabolism

Novel mutations of the BSCL2 and AGPAT2 genes in 10 families with Berardinelli-Seip congenital generalized lipodystrophy syndrome

(2009) Debora M. Miranda et al.   CLINICAL ENDOCRINOLOGY

Inherited lipodystrophies and hypertriglyceridemia

(2009) Vinaya Simha et al.   CURRENT OPINION IN LIPIDOLOGY

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

Natural Course of Neonatal Progeroid Syndrome

(2009) Jia-Woei Hou   Pediatrics and Neonatology

Novel subtype of congenital generalized lipodystrophy associated with muscular weakness and cervical spine instability

(2008) Vinaya Simha et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Deletion of Cavin/PTRF Causes Global Loss of Caveolae, Dyslipidemia, and Glucose Intolerance

(2008) Libin Liu et al.   Cell Metabolism

Fld1p, a functional homologue of human seipin, regulates the size of lipid droplets in yeast

(2008) Weihua Fei et al.   JOURNAL OF CELL BIOLOGY

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

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

Congenital generalized lipodystrophy in an Indian patient with a novel mutation in BSCL2 gene

(2008) H. U. Shirwalkar et al.   JOURNAL OF INHERITED METABOLIC DISEASE