Genomes and Genes
Summary: A collection of rare conditions resulting from defective fat metabolism and characterized by atrophy of the subcutaneous fat. They include total, congenital or acquired, partial, abdominal infantile, and localized lipodystrophy.
Publications282 found, 100 shown here
- The lipodystrophy protein seipin is found at endoplasmic reticulum lipid droplet junctions and is important for droplet morphologyKimberly M Szymanski
Department of Pharmacology, University of Texas Southwestern Medical School, Dallas, TX 75390, USA
Proc Natl Acad Sci U S A 104:20890-5. 2007b>Lipodystrophy is a disorder characterized by a loss of adipose tissue often accompanied by severe hypertriglyceridemia, insulin resistance, diabetes, and fatty liver. It can be inherited or acquired...
- Clinical review#: Lipodystrophies: genetic and acquired body fat disordersAbhimanyu Garg
Division of Nutrition and Metabolic Diseases, Department of Internal Medicine, Center for Human Nutrition, University of Texas Southwestern Medical Center at Dallas, Dallas, Texas 75390 8537, USA
J Clin Endocrinol Metab 96:3313-25. 2011..The extent of fat loss determines the severity of associated metabolic complications such as diabetes mellitus, hypertriglyceridemia, and hepatic steatosis...
- Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophyYukiko K Hayashi
Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan
J Clin Invest 119:2623-33. 2009..Here, we identified PTRF mutations in 5 nonconsanguineous patients who presented with both generalized lipodystrophy and muscular dystrophy...
- Lipodystrophy: metabolic insights from a rare disorderIsabel Huang-Doran
Metabolic Research Laboratories, Institute of Metabolic Science, Addenbrooke s Hospital, University of Cambridge, Hills Road, Cambridge CB2 0QQ, UK
J Endocrinol 207:245-55. 2010..and clinical profiles of individuals with excess fat (obesity) and those with an abnormal paucity of fat (lipodystrophy), including severe insulin resistance, dyslipidaemia, hepatic steatosis and features of hyperandrogenism...
- Lipodystrophy in the fld mouse results from mutation of a new gene encoding a nuclear protein, lipinM Peterfy
Department of Medicine, University of California, Los Angeles, California, USA
Nat Genet 27:121-4. 2001Mice carrying mutations in the fatty liver dystrophy (fld) gene have features of human lipodystrophy, a genetically heterogeneous group of disorders characterized by loss of body fat, fatty liver, hypertriglyceridemia and insulin ..
- Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneityYin Liu
National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, MD 20892, USA
Arthritis Rheum 64:895-907. 2012Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE syndrome) is an autoinflammatory syndrome recently described in children...
- Congenital generalized lipodystrophy: significance of triglyceride biosynthetic pathwaysAnil K Agarwal
Division of Nutrition and Metabolic Diseases, Department of Internal Medicine, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd, Dallas, TX 75390, USA
Trends Endocrinol Metab 14:214-21. 2003Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder characterized by marked lack of body fat since birth, which results in striking muscular appearance...
- Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13J Magre
INSERM U 402, Faculte de Medecine Saint Antoine, Universite Pierre et Marie Curie, 27 rue Chaligny, 75012 Paris, France
Nat Genet 28:365-70. 2001Congenital generalized lipodystrophy, or Berardinelli-Seip syndrome (BSCL), is a rare autosomal recessive disease characterized by a near-absence of adipose tissue from birth or early infancy and severe insulin resistance...
- PSMB8 encoding the β5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndromeAnil K Agarwal
Department of Internal Medicine, Center for Human Nutrition, University of Texas Southwestern Medical Center, Dallas, 75390, USA
Am J Hum Genet 87:866-72. 2010..syndrome characterized by joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP). This revealed only one homozygous region spanning 2...
- A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humansAkiko Kitamura
Department of Immunology and Parasitology, Institute of Health Biosciences, University of Tokushima Graduate School, Tokushima, Japan
J Clin Invest 121:4150-60. 2011..suffered from autoinflammatory responses that included recurrent fever and nodular erythema together with lipodystrophy. This mutation increased assembly intermediates of immunoproteasomes, resulting in decreased proteasome ..
- Diagnosis, prediction, and natural course of HIV-1 protease-inhibitor-associated lipodystrophy, hyperlipidaemia, and diabetes mellitus: a cohort studyA Carr
HIV Medicine Unit and Centre for Immunology, St Vincent s Hospital, Sydney, NSW, Australia
Lancet 353:2093-9. 1999The prevalence and severity of lipodystrophy syndrome with long-term therapy for HIV-1 infection that includes a protease inhibitor is unknown...
- Adipose tissue as a buffer for daily lipid fluxK N Frayn
Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Radcliffe Infirmary, Oxford OX2 6HE, UK
Diabetologia 45:1201-10. 2002..occurs in obesity and Type II (non-insulin-dependent) diabetes mellitus, but it is also a prominent feature of lipodystrophy. Adipose tissue could play a crucial part in buffering the flux of fatty acids in the circulation in the ..
- Efficacy of leptin therapy in the different forms of human lipodystrophyA Y Chong
Clinical Endocrinology Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA
Diabetologia 53:27-35. 2010b>Lipodystrophy is a rare disorder characterised by loss of adipose tissue, hypoleptinaemia, severe insulin resistance, diabetes and dyslipidaemia...
- Leptin reverses insulin resistance and diabetes mellitus in mice with congenital lipodystrophyI Shimomura
Department of Molecular Genetics, Howard Hughes Medical Institute, University of Texas Southwestern Medical Center, Dallas 75235 9046, USA
Nature 401:73-6. 1999Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder characterized by a paucity of adipose (fat) tissue which is evident at birth and is accompanied by a severe resistance to insulin, leading to ..
- Inflammation and adipose tissue macrophages in lipodystrophic miceLaura Herrero
Joslin Diabetes Center and Department of Medicine, Harvard Medical School, Boston, MA 02115, USA
Proc Natl Acad Sci U S A 107:240-5. 2010b>Lipodystrophy and obesity are opposites in terms of a deficiency versus excess of adipose tissue mass, yet these conditions are accompanied by similar metabolic consequences, including insulin resistance, dyslipidemia, hepatic steatosis, ..
- Mitochondrial toxicity induced by nucleoside-analogue reverse-transcriptase inhibitors is a key factor in the pathogenesis of antiretroviral-therapy-related lipodystrophyK Brinkman
Department of Internal Medicine, Onze Lieve Vrouwe Gasthuis, Amsterdam, The Netherlands
Lancet 354:1112-5. 1999Highly active antiretroviral therapy (HAART) can induce a characteristic lipodystrophy syndrome of peripheral fat wasting and central adiposity...
- Nakajo-Nishimura syndrome: an autoinflammatory disorder showing pernio-like rashes and progressive partial lipodystrophyNobuo Kanazawa
Department of Dermatology, Wakayama Medical University, Wakayama, Japan
Allergol Int 61:197-206. 2012....
- Myostatin inhibition prevents diabetes and hyperphagia in a mouse model of lipodystrophyTingqing Guo
Genetics of Development and Disease Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland, USA
Diabetes 61:2414-23. 2012..To test this hypothesis, we inhibited MSTN signaling in a diabetic model of generalized lipodystrophy to analyze its effects on glucose metabolism separate from effects on adipose mass...
- Rationale for leptin-replacement therapy for severe lipodystrophyElif A Oral
University of Michigan, Ann Arbor, Michigan, USA
Endocr Pract 16:324-33. 2010To review evidence supporting the hypothesis that metabolic manifestations of lipodystrophy result from leptin deficiency and that leptin replacement may be a viable treatment for generalized lipodystrophy.
- AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34Anil K Agarwal
Department of Internal Medicine, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd, Dallas, Texas 75390, USA
Nat Genet 31:21-3. 2002Congenital generalized lipodystrophy is an autosomal recessive disorder characterized by marked paucity of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes...
- The human lipodystrophy gene BSCL2/seipin may be essential for normal adipocyte differentiationVictoria A Payne
University of Cambridge Metabolic Research Laboratories, Institute of Metabolic Science, Addenbrooke s Hospital, Cambridge, UK
Diabetes 57:2055-60. 2008Berardinelli-Seip congenital lipodystrophy type 2 (BSCL2) is a recessive disorder featuring near complete absence of adipose tissue...
- Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation in CIDECOscar Rubio-Cabezas
Department of Endocrinology, Hospital Infantil Universitario Nino Jesus, Madrid, Spain
EMBO Mol Med 1:280-7. 2009..In this paper we describe a female patient with partial lipodystrophy (affecting limb, femorogluteal and subcutaneous abdominal fat), white adipocytes with multiloculated lipid ..
- LMNA, encoding lamin A/C, is mutated in partial lipodystrophyS Shackleton
Division of Medical Genetics, Departments of Medicine and Genetics, University of Leicester, Leicester, UK
Nat Genet 24:153-6. 2000..Partial lipodystrophy (PLD; MIM 151660) is an inherited condition in which a regional (trunk and limbs) loss of fat occurs during ..
- Long-term efficacy of leptin replacement in patients with generalized lipodystrophyEdward D Javor
Clinical Endocrinology Branch, National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, MD 20892, USA
Diabetes 54:1994-2002. 2005..One human model of ectopic fat deposition is generalized lipodystrophy. Generalized lipodystrophy is a rare disorder characterized by a profound deficiency of adipose tissue with ..
- Nuclear envelope disorganization in fibroblasts from lipodystrophic patients with heterozygous R482Q/W mutations in the lamin A/C geneC Vigouroux
INSERM U 402, Faculte de Medecine Saint Antoine, 75012 Paris, France
J Cell Sci 114:4459-68. 2001Dunnigan-type familial partial lipodystrophy (FPLD), characterized by an abnormal body fat redistribution with insulin resistance, is caused by missense heterozygous mutations in A-type lamins (lamins A and C)...
- Hepatic fibrosis, glomerulosclerosis, and a lipodystrophy-like syndrome in PEPCK-TGF-beta1 transgenic miceD E Clouthier
Department of Biochemistry and The Howard Hughes Medical Institute, University of Texas Southwestern Medical Center, Dallas, Texas 75235 9050, USA
J Clin Invest 100:2697-713. 1997..Expression of TGF-beta1 in white and brown adipose tissue resulted in a lipodystrophy-like syndrome...
- Risk factors for diabetes in familial partial lipodystrophy, Dunnigan varietyWasim A Haque
Division of Nutrition and Metabolic Diseases, Center for Human Nutrition, Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas 75390, USA
Diabetes Care 26:1350-5. 2003Familial partial lipodystrophy, Dunnigan variety (FPLD), is an autosomal dominant disorder due to missense mutations in the lamin A/C (LMNA) gene encoding nuclear lamina proteins...
- Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndromeAntonio Torrelo
Department of Dermatology, Hospital del Nino Jesus, Menendez Pelayo 65, 28009 Madrid, Spain
J Am Acad Dermatol 62:489-95. 2010..recurrent fevers, annular violaceous plaques, persistent violaceous eyelid swelling, low weight and height, lipodystrophy, hepatomegaly, and a range of visceral inflammatory manifestations...
- CNS manifestations of Nasu-Hakola disease: a frontal dementia with bone cystsJ Paloneva
Department of Human Molecular Genetics, National Public Health Institute, Helsinki, Finland
Neurology 56:1552-8. 2001..Consequently, patients with frontal-type dementia of unknown origin should be investigated by x-ray of ankles and wrists. The current results suggest early basal ganglia involvement in PLOSL...
- A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathyF Caux
Service de Dermatologie, Hopital Avicenne, 93000 Bobigny, France
J Clin Endocrinol Metab 88:1006-13. 2003..These include familial partial lipodystrophy of the Dunnigan type and the mandibuloacral dysplasia syndrome...
- Impact of Lipodystrophy on the prevalence and components of metabolic syndrome in HIV-infected patientsPaula Freitas
Endocrinology, Diabetes and Metabolism Department of Centro Hospitalar São João, E P E, University of Porto Medical School, Alameda Hernani Monteiro, 4200 319 Porto, Portugal
BMC Infect Dis 11:246. 2011In HIV-infected patients, combination antiretroviral therapy (cART) is associated with clinical lipodystrophy (CL) and metabolic abnormalities (MA)...
- Mutations in Gng3lg and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome: phenotype variability suggests important modifier effectsMao Fu
Division of Endocrinology, Diabetes and Nutrition, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA
J Clin Endocrinol Metab 89:2916-22. 2004Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder caused by mutations in AGPAT2 and Gng3lg. We screened for mutations in AGPAT2 and Gng3lg in 26 families with CGL and one family with Brunzell syndrome...
- Leptin reverses nonalcoholic steatohepatitis in patients with severe lipodystrophyEdward D Javor
Clinical Endocrinology Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA
Hepatology 41:753-60. 2005Severe lipodystrophy is characterized by diminished adipose tissue and hypoleptinemia, leading to ectopic triglyceride accumulation...
- Analysis of genetic variation in Akt2/PKB-beta in severe insulin resistance, lipodystrophy, type 2 diabetes, and related metabolic phenotypesKaren Tan
Metabolic Disease Group, Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, CB10 1SA, U K
Diabetes 56:714-9. 2007..missense mutation in Akt2 led to a dominantly inherited syndrome of insulin-resistant diabetes and partial lipodystrophy. To determine whether genetic variation in AKT2 plays a broader role in human metabolic disease, we sequenced ..
- Failure of lamin A/C to functionally assemble in R482L mutated familial partial lipodystrophy fibroblasts: altered intermolecular interaction with emerin and implications for gene transcriptionCristina Capanni
Laboratory of Cell Biology, Istituti Ortopedici Rizzoli, Bologna, Italy
Exp Cell Res 291:122-34. 2003Familial partial lipodystrophy is an autosomal dominant disease caused by mutations of the LMNA gene encoding alternatively spliced lamins A and C...
- Mitochondrial functionality and mitochondrial DNA content in lymphocytes of vertically infected human immunodeficiency virus-positive children with highly active antiretroviral therapy-related lipodystrophyAndrea Cossarizza
Department of Biomedical Sciences, Section of General Pathology, University of Modena and Reggio Emilia School of Medicine, 41100 Modena, Italy
J Infect Dis 185:299-305. 2002..peripheral blood lymphocytes (PBL) of human immunodeficiency virus type 1-infected children, with or without lipodystrophy (LD), who were receiving highly active antiretroviral therapy (HAART) and in PBL of healthy control subjects (..
- Prevalence of lipodystrophy in HIV-infected children: a cross-sectional studyLuminita Ene
Department of Pediatric AIDS, Dr Victor Babes Hospital for Infectious Disease, 281 Sos Mihai Bravu, Sector 3, Bucharest, Romania
Eur J Pediatr 166:13-21. 2007....
- Phenotypic heterogeneity in body fat distribution in patients with congenital generalized lipodystrophy caused by mutations in the AGPAT2 or seipin genesVinaya Simha
Division of Nutrition and Metabolic Diseases, Center for Human Nutrition, Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, Texas 75390, USA
J Clin Endocrinol Metab 88:5433-7. 2003Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive syndrome characterized by extreme paucity of adipose tissue since birth, acanthosis nigricans, severe insulin resistance, marked hypertriglyceridemia, and early-..
- The fatty acid binding protein-4 (FABP4) is a strong biomarker of metabolic syndrome and lipodystrophy in HIV-infected patientsBlai Coll
Centre de Recerca Biomedica, Hospital Universitari Sant Joan, Universitat Rovira i Virgili, 43201 Reus, Tarragona, Spain
Atherosclerosis 199:147-53. 2008..Fatty acid binding protein-4 (FABP4) is an emerging biomarker for metabolic-related disturbances. We aimed to study FABP4 as a marker of metabolic syndrome (MS) or lipodystrophy (LD) in HIV patients.
- Inhibition of glyceroneogenesis by histone deacetylase 3 contributes to lipodystrophy in mice with adipose tissue inflammationJin Zhang
Antioxidant and Gene Regulation Laboratory, Pennington Biomedical Research Center, Antioxidant and Gene Regulation, Baton Rouge, Louisiana 70808, USA
Endocrinology 152:1829-38. 2011..Tg mice suffer a mild lipodystrophy and exhibit deficiency in adipocyte differentiation...
- Clinical effects of long-term metreleptin treatment in patients with lipodystrophyJean L Chan
Amylin Pharmaceuticals, Inc, San Diego, California 92121, USA
Endocr Pract 17:922-32. 2011To evaluate the long-term clinical effect of treatment with metreleptin (an analogue of human leptin) on glycemic and lipid abnormalities and markers of hepatic steatosis in patients with inherited or acquired lipodystrophy.
- Reduction of abdominal obesity in lipodystrophy associated with human immunodeficiency virus infection by means of diet and exercise: case report and proof of principleRonenn Roubenoff
Department of Community Health, Tufts University School of Medicine, and Jean Mayer US Department of Agriculture Human Nutrition Research Center, Boston, Massachusetts 02111, USA
Clin Infect Dis 34:390-3. 2002b>Lipodystrophy associated with human immunodeficiency virus infection causes abdominal fat gain, peripheral subcutaneous fat atrophy, insulin resistance, low levels of high-density lipoprotein cholesterol, and hypertriglyceridemia...
- Prevalence of metabolic syndrome in HIV-infected patients receiving highly active antiretroviral therapy using International Diabetes Foundation and Adult Treatment Panel III criteria: associations with insulin resistance, disturbed body fat compartmentalKatherine Samaras
Diabetes and Obesity Programme, Garvan Institute of Medical Research, Darlinghurst, New South Wales 2010, Australia
Diabetes Care 30:113-9. 2007..of HIV infection with highly active antiretroviral therapy can induce severe metabolic complications including lipodystrophy, dyslipidemia, and insulin resistance...
- Lipodystrophy and anti-retroviral therapy as predictors of sub-clinical atherosclerosis in human immunodeficiency virus infected subjectsGiovanni Guaraldi
Metabolic Clinic, Infectious and Tropical Disease Unit, Department of Medicine, University of Modena and Reggio Emilia, Modena, Italy
Atherosclerosis 208:222-7. 2010..A frequent complication of ART is the development of lipodystrophy (LD) with its multiple phenotypes that may be associated with cardiovascular disease...
- Congenital generalized lipodystrophy, type 4 (CGL4) associated with myopathy due to novel PTRF mutationsSavitha Shastry
Division of Nutrition and Metabolic Diseases, Department of Internal Medicine, Center for Human Nutrition, University of Texas Southwestern Medical Center at Dallas, Dallas, Texas, USA
Am J Med Genet A 152:2245-53. 2010Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder characterized by near total absence of body fat since birth with predisposition to insulin resistance, diabetes, hypertriglyceridemia, and hepatic ..
- Thematic review series: Adipocyte Biology. Lipodystrophies: windows on adipose biology and metabolismRobert A Hegele
Robarts Research Institute and Schulich School of Medicine and Dentistry, University of Western Ontario, London, Ontario, Canada
J Lipid Res 48:1433-44. 2007..Molecularly characterized forms include Dunnigan-type familial partial lipodystrophy (FPLD), partial lipodystrophy with mandibuloacral dysplasia (MAD), Berardinelli-Seip congenital generalized ..
- Lipodystrophy: pathophysiology and advances in treatmentChristina G Fiorenza
Division of Endocrinology, Diabetes and Metabolism, Beth Israel Deaconess Medical Center, Boston, MA 02215, USA
Nat Rev Endocrinol 7:137-50. 2011b>Lipodystrophy is a medical condition characterized by complete or partial loss of adipose tissue. Not infrequently, lipodystrophy occurs in combination with pathological accumulation of adipose tissue at distinct anatomical sites...
- Failure to maintain long-term adherence to highly active antiretroviral therapy: the role of lipodystrophyS Duran
INSERM U379, Marseille, France
AIDS 15:2441-4. 2001..4% self-reported at least one lipodystrophy-related symptom and 30.0% failed to maintain adherence behaviour 20 months after enrolment...
- Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophyL Van Maldergem
Centre de Genetique Humaine, Institut de Pathologie et de Génétique, Loverval, Belgium
J Med Genet 39:722-33. 2002Generalised lipodystrophy of the Berardinelli-Seip type (BSCL) is a rare autosomal recessive human disorder with severe adverse metabolic consequences...
- Efficacy and safety of leptin-replacement therapy and possible mechanisms of leptin actions in patients with generalized lipodystrophyKen Ebihara
Department of Medicine and Clinical Science, Kyoto University Graduate School of Medicine, 54 Shogoin Kyoto 606 8507, Japan
J Clin Endocrinol Metab 92:532-41. 2007Lack of leptin is implicated in insulin resistance and other metabolic abnormalities in generalized lipodystrophy; however, the efficacy, safety, and underlying mechanisms of leptin-replacement therapy in patients with generalized ..
- Reduction of fat accumulation and lipid disorders by individualized light aerobic training in human immunodeficiency virus infected patients with lipodystrophy and/or dyslipidemiaG J Thöni
UPRES EA 2991, Sports, Performance, Health Laboratory, Faculty of Sport Sciences, Montpellier, France
Diabetes Metab 28:397-404. 2002..The management of abdominal fat accumulation and metabolic disorders in HIV1-infected patients, by an aerobic training program, is considered...
- Metabolic function and the prevalence of lipodystrophy in a population of HIV-infected African subjects receiving highly active antiretroviral therapyEugene Mutimura
Kigali Health Institute, Kigali, Rwanda
J Acquir Immune Defic Syndr 46:451-5. 2007This study measured the prevalence of lipodystrophy and the metabolic effects of highly active antiretroviral therapy (HAART) in HIV-infected African subjects.
- Genetic disorders of adipose tissue development, differentiation, and deathAnil K Agarwal
Division of Nutrition and Metabolic Diseases, Department of Internal Medicine and the Center for Human Nutrition, University of Texas Southwestern Medical Center at Dallas, Dallas, Texas 75390 9052, USA
Annu Rev Genomics Hum Genet 7:175-99. 2006..In this review, we focus on the molecular basis of inherited lipodystrophies as they relate to adipocyte biology and their associated phenotypic manifestations...
- Agpat6 deficiency causes subdermal lipodystrophy and resistance to obesityLaurent Vergnes
Department of Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA
J Lipid Res 47:745-54. 2006..Thus, Agpat6 plays a unique role in determining triglyceride content and composition in adipose tissue and liver that cannot be compensated by other members of the Agpat family...
- Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutationsA Muchir
INSERM U582, Institut de Myologie, GH Pitié Salpétrière, Batiment Babinski, 47 Boulevard de l Hopital, Paris 75013, France
Muscle Nerve 30:444-50. 2004....
- Radiological features in generalized lipodystrophyJ Westvik
Department of Radiology, Rikshospitalet, National Hospital, Oslo, Norway
Acta Paediatr Suppl 413:44-51. 1996Seven patients with congenital generalized lipodystrophy and one patient with acquired generalized lipodystrophy have been followed up for 38 years. Various radiological techniques have been used, and the major findings are summarized...
- LDL-receptors expression in HIV-infected patients: relations to antiretroviral therapy, hormonal status, and presence of lipodystrophyJ M Petit
Hopital Universitaire du Bocage, 21000 Dijon, France
Eur J Clin Invest 32:354-9. 2002Abnormalities in lipid levels and lipodystrophy (LD) have been commonly reported after commencement of highly active antiretroviral therapy (HAART)...
- Lipodystrophy syndrome in patients with HIV infection: quality of life issuesE Martinez
Infectious Diseases Unit, Clinical Intitute of Infections and Immunology, Institut d Investigacions Biomediques August Pi i Sunyer, Hospital Clinic, Barcelona, Spain
Drug Saf 24:157-66. 2001..Body fat redistribution and metabolic abnormalities, the so-called lipodystrophy syndrome, are among the most prevalent and worrisome ones...
- Systematic review of antiretroviral-associated lipodystrophy: lipoatrophy, but not central fat gain, is an antiretroviral adverse drug reactionReneé de Waal
Division of Clinical Pharmacology, Department of Medicine, University of Cape Town, Cape Town, South Africa
PLoS ONE 8:e63623. 2013..Lipoatrophy and/or central fat gain are observed frequently in patients on antiretroviral therapy (ART). Both are assumed to be antiretroviral adverse drug reactions...
- Gene and phenotype analysis of congenital generalized lipodystrophy in Japanese: a novel homozygous nonsense mutation in seipin geneKen Ebihara
Department of Medicine and Clinical Science, Kyoto University Graduate School of Medicine, Kyoto 606 8507, Japan
J Clin Endocrinol Metab 89:2360-4. 2004Congenital generalized lipodystrophy (CGL), Berardinelli-Seip syndrome, is a rare metabolic disorder characterized by a near total lack of adipose tissue from birth or early infancy...
- Human 1-acylglycerol-3-phosphate O-acyltransferase isoforms 1 and 2: biochemical characterization and inability to rescue hepatic steatosis in Agpat2(-/-) gene lipodystrophic miceAnil K Agarwal
Division of Nutrition and Metabolic Diseases, University of Texas Southwestern Medical Center at Dallas, Dallas, Texas 75390, USA
J Biol Chem 286:37676-91. 2011..Loss of adipose tissue, or lipodystrophy, results in hyperinsulinemia, diabetes mellitus, and severe hepatic steatosis...
- New metabolic phenotypes in laminopathies: LMNA mutations in patients with severe metabolic syndromeAurélie Decaudain
INSERM U680, Paris, F 75012 France
J Clin Endocrinol Metab 92:4835-44. 2007..DESIGN, SETTING, AND PATIENTS: Sequencing of the LMNA coding regions in 277 unrelated adults investigated for lipodystrophy and/or insulin resistance revealed 17 patients with substitutions at codon 482 observed in typical Dunnigan's ..
- Effects of protease inhibitors on hyperglycemia, hyperlipidemia, and lipodystrophy: a 5-year cohort studyS Tsiodras
Division of Infectious Diseases, Beth Israel Deaconess Medical Center, West Campus, One Autumn Street, Kennedy Bldg, Sixth Floor, Boston, MA 02215, USA
Arch Intern Med 160:2050-6. 2000..However, since data from patients studied before and after initiation of protease inhibitor (PI) therapy are scant, the true effect of PIs on these metabolic changes remains unknown...
- Leptin activates hepatic 5'-AMP-activated protein kinase through sympathetic nervous system and α1-adrenergic receptor: a potential mechanism for improvement of fatty liver in lipodystrophy by leptinLicht Miyamoto
Department of Medicine and Clinical Science, Kyoto University Graduate School of Medicine, Kyoto University Hospital, 54 Shogoin Kawahara cho, Kyoto 606 8507, Japan
J Biol Chem 287:40441-7. 2012..AMPK activation promotes glucose and lipid metabolism...
- A regulatory role for 1-acylglycerol-3-phosphate-O-acyltransferase 2 in adipocyte differentiationSarah E Gale
Center for Cardiovascular Research and Department of Internal Medicine, School of Medicine, Washington University, St Louis, Missouri 63110 1010, USA
J Biol Chem 281:11082-9. 2006..2 (AGPAT2) gene have been identified in individuals affected with congenital generalized lipodystrophy (CGL)...
- Phenotypic and genetic heterogeneity in congenital generalized lipodystrophyAnil K Agarwal
Department of Internal Medicine, Division of Nutrition and Metabolic Diseases and Center for Human Nutrition, University of Texas Southwestern Medical Center, Dallas, Texas 75390, USA
J Clin Endocrinol Metab 88:4840-7. 2003Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder characterized by near complete absence of adipose tissue from birth...
- The effect of polymorphisms in candidate genes on the long-term risk of lipodystrophy and dyslipidemia in HIV-infected white patients starting antiretroviral therapyAngela Marzocchetti
Institute of Clinical Infectious Diseases, Catholic University of Sacred Heart, Rome, Italy
AIDS Res Hum Retroviruses 27:1299-309. 2011..whether polymorphisms in human candidate genes could be associated with a different risk of developing lipodystrophy and dyslipidemia in HIV-infected patients starting combination antiretroviral therapy (cART)...
- Genetic syndromes of severe insulin resistanceRobert K Semple
Metabolic Research Laboratories, Institute of Metabolic Science, University of Cambridge, Addenbrooke s Hospital, Cambridge, United Kingdom
Endocr Rev 32:498-514. 2011..with primary disorders of insulin signaling and those with defects in adipose tissue development or function (lipodystrophy)...
- Insulin resistance in the HIV-lipodystrophy syndromeS Grinspoon
Neuroendocrine Unit, Massachusetts General Hospital, Boston, MA 02114, USA
Trends Endocrinol Metab 12:413-9. 2001Insulin resistance is increasingly recognized among HIV-infected patients with fat redistribution (lipodystrophy) who are receiving highly active antiretroviral therapy...
- Elevated Fra-1 expression causes severe lipodystrophyJulia Luther
Department of Internal Medicine 3, University of Erlangen Nuremberg, D91054 Erlangen, Germany
J Cell Sci 124:1465-76. 2011..osteosclerosis as a result of accelerated osteoblast differentiation, also developed a severe general lipodystrophy. The residual fat of these mice appeared immature and expressed lower levels of adipogenic markers, including ..
- Association between HLA-B*4001 and lipodystrophy among HIV-infected patients from Thailand who received a stavudine-containing antiretroviral regimenWittaya Wangsomboonsiri
Departments of Medicine, University of Tokyo, Tokyo, Japan
Clin Infect Dis 50:597-604. 2010Stavudine-containing antiretroviral regimens are widely used in developing countries. Stavudine-associated lipodystrophy commonly occurs, without a clear predictable pattern owing to the unknown interaction between stavudine and the host,..
- Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome: a case reportYuval Ramot
Departments of Dermatology, The Center for Genetic Diseases of the Skin and Hair, Hadassah Hebrew University Medical Center, Jerusalem, Israel
Pediatr Dermatol 28:538-41. 2011Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome is a recently described chronic inflammatory syndrome consisting of widespread annular violaceous skin lesions and multisystemic inflammatory ..
- HIV-associated lipodystrophy, metabolic complications, and antiretroviral toxicitiesGraeme Moyle
Chelsea and Westminster Hospital, London, United Kingdom
HIV Clin Trials 3:89-98. 2002
- Suppression of the C/EBP family of transcription factors in adipose tissue causes lipodystrophyRaghunath Chatterjee
Laboratory of Metabolism, National Cancer Institute, National Institutes of Health, Building 37, Room 3128, Bethesda, Maryland 20892, USA
J Mol Endocrinol 46:175-92. 2011..At 30 weeks, the aP2-A-C/EBP mice had only 35% reduced WAT, with clear morphological signs of lipodystrophy in subcutaneous fat...
- Genetic basis of congenital generalized lipodystrophyA K Agarwal
Division of Nutrition and Metabolic Diseases, Department of Internal Medicine, Center for Human Nutrition, University of Texas Southwestern Medical Center, Dallas, 75390, USA
Int J Obes Relat Metab Disord 28:336-9. 2004Congenital generalized lipodystrophy (CGL) is an autosomal recessive disorder characterized by extreme lack of body fat and severe insulin resistance since birth...
- Increased insulin sensitivity despite lipodystrophy in Crebbp heterozygous miceToshimasa Yamauchi
Department of Internal Medicine, Graduate School of Medicine, University of Tokyo, Tokyo 113 8655, Japan
Nat Genet 30:221-6. 2002..Despite this lipodystrophy, Crebbp+/- mice showed increased insulin sensitivity and glucose tolerance and were completely protected from ..
- Lipodystrophy and metabolic changes in HIV-infected children on non-nucleoside reverse transcriptase inhibitor-based antiretroviral therapyLinda Aurpibul
Research Institute for Health Sciences, Chiang Mai University, Chiang Mai, Thailand
Antivir Ther 12:1247-54. 2007..Its long-term effects have not been clearly evaluated. The objective of this study was to estimate the prevalence of lipodystrophy (LD) and other metabolic changes in HIV-infected children receiving HAART.
- Lipodystrophy in HIV-1-positive patients is associated with insulin resistance in multiple metabolic pathwaysM van der Valk
National AIDS Therapy Evaluation Center and Department of Infectious Diseases, Tropical Medicine and AIDS, Academic Medical Center, Amsterdam, The Netherlands
AIDS 15:2093-100. 2001Treatment for HIV-1 infection is complicated by fat redistribution (lipodystrophy). This is associated with insulin resistance concerning glucose uptake...
- Compound heterozygosity for mutations in LMNA in a patient with a myopathic and lipodystrophic mandibuloacral dysplasia type A phenotypeFrancesca Lombardi
Department of Biopathology and Diagnostic Imaging, University of Rome Tor Vergata, Via Montpellier 1, 00133 Rome, Italy
J Clin Endocrinol Metab 92:4467-71. 2007..OMIM 248370) is a rare progeroid syndrome characterized by dysmorphic craniofacial and skeletal features, lipodystrophy, and metabolic complications. Most Italian patients carry the same homozygous missense mutation (p...
- Elevated concentrations of free fatty acids are associated with increased insulin response to standard glucose challenge in human immunodeficiency virus-infected subjects with fat redistributionGary Meininger
Department of Pathology, Massachusetts General Hospital and Children s Hospital, Boston, MA 02114, USA
Metabolism 51:260-6. 2002..in this population is associated with insulin resistance and dyslipidemia and is often referred to as the HIV lipodystrophy syndrome (LIPO)...
- Inherited lipodystrophies and hypertriglyceridemiaVinaya Simha
Division of Nutrition and Metabolic Diseases, Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, Texas 75390, USA
Curr Opin Lipidol 20:300-8. 2009..We review the new insights in the pathophysiology and treatment of these disorders based on the current understanding of the biologic role of these lipodystrophy genes.
- Evolution of the phenotype in a family with an LMNA gene mutation presenting with isolated cardiac involvementNicola Carboni
Neuromuscular Unit, Department of Cardiological and Neurological Sciences, University of Cagliari, Ospedale Binaghi, Via Is Guadazzonis, 2, 09126 Cagliari, Italy
Muscle Nerve 41:85-91. 2010..One of the 3 longest surviving relatives manifested late lipodystrophy, and the other 2 had lipodystrophy, insulin-resistant diabetes, and distal peripheral neuropathy...
- Ethnicity and gender differences in lipodystrophy of HIV-positive individuals taking antiretroviral therapy in Ontario, CanadaNisha Andany
Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada
HIV Clin Trials 12:89-103. 2011This study assessed ethnicity and gender differences in prevalence, type, and severity of antiretroviral-associated lipodystrophy in HIV-positive individuals in Ontario.
- HIV-associated lipodystrophy: from fat injury to premature agingMartine Caron-Debarle
INSERM, U938, CdR Saint Antoine, 75012 Paris, France
Trends Mol Med 16:218-29. 2010..However, many patients under cART display HIV-associated lipodystrophy. Moreover, some develop early age-related comorbidities...
- Lipodystrophy and metabolic syndrome in HIV-infected patients treated with antiretroviral therapyVicente Estrada
Internal Medicine Department, Diabetes and Lipids Research Laboratory, Hospital Clinico San Carlos, Complutense University, 28040 Madrid, Spain
Metabolism 55:940-5. 2006b>Lipodystrophy (lipo) and metabolic derangements associated with an increased cardiovascular risk are observed frequently in human immunodeficiency virus (HIV)-infected patients who receive antiretroviral treatment (ART)...
- Mouse models of inherited lipodystrophyDavid B Savage
Metabolic Research Laboratories, Institute of Metabolic Science, University of Cambridge, Addenbrooke s Hospital, Cambridge, UK
Dis Model Mech 2:554-62. 2009..consequences of having 'too much' fat (obesity) are remarkably similar to those of having 'too little' fat (lipodystrophy): a finding that has generated considerable interest in a rare disease...
- Phenotypic gender differences in subjects with familial partial lipodystrophy (Dunnigan variety) due to a nuclear lamin A/C R482W mutationD Araujo-Vilar
Servicio de Endocrinoloxía e Nutrición, Departamento de Medicina, University of Santiago de Compostela, Spain
Horm Metab Res 35:29-35. 2003Phenotypic features appeared after puberty in female, but not male subjects with familial partial lipodystrophy (FPLD)...
- Lipodystrophy syndrome in children infected with human immunodeficiency virusC A Wedekind
College of Pharmacy, University of Rhodes Island, Kingston, 02881, USA
Pharmacotherapy 21:861-6. 2001b>Lipodystrophy syndrome (LDS), a fat-wasting condition commonly reported in adults infected with human immunodeficiency virus (HIV), has been linked to the use of antiretroviral agents...
- Molecular mechanisms controlling human adipose tissue development: insights from monogenic lipodystrophiesJustin J Rochford
Metabolic Research Laboratories, Institute of Metabolic Science, University of Cambridge, Addenbrookes Hospital, Hills Road Cambridge, Cambridge CB2 0QQ, UK
Expert Rev Mol Med 12:e24. 2010..functioning adipose tissue is essential for human health, a fact most clearly illustrated by individuals with lipodystrophy, who have impaired adipose development and often suffer severe metabolic disease as a result...
- Cardiomyopathy in congenital and acquired generalized lipodystrophy: a clinical assessmentBeatrice C Lupsa
Clinical Endocrinology Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland, USA
Medicine (Baltimore) 89:245-50. 2010b>Lipodystrophy is a rare disorder characterized by loss of adipose tissue and low leptin levels. This condition is characterized by severe dyslipidemia, insulin resistance, diabetes mellitus, and steatohepatitis...
- Metabolic basis of HIV-lipodystrophy syndromeRajagopal V Sekhar
Section of Endocrinology and Department of Medicine, Children s Nutrition Research Center and US Department of Agriculture Agricultural Research Service, Baylor College of Medicine, Houston 77030, USA
Am J Physiol Endocrinol Metab 283:E332-7. 2002Human immunodeficiency virus (HIV)-lipodystrophy syndrome (HLS) is characterized by hypertriglyceridemia, low high-density lipoprotein-cholesterol, lipoatrophy, and central adiposity...
- Association of severe insulin resistance with both loss of limb fat and elevated serum tumor necrosis factor receptor levels in HIV lipodystrophyD C Mynarcik
Department of Medicine and Department of Surgery, State University of New York at Stony Brook, Stony Brook, New York 11794 8154, USA
J Acquir Immune Defic Syndr 25:312-21. 2000HIV-lipodystrophy (HIV-LD) is characterized by the loss of body fat from the limbs and face, an increase in truncal fat, insulin resistance, and hyperlipidemia, factors placing affected patients at increased risk for vascular disease...
- Longitudinal evaluation and risk factors of lipodystrophy and associated metabolic changes in HIV-infected childrenMarta Beregszaszi
INSERM Unit 690, Hopital Robert Debre, Paris, France
J Acquir Immune Defic Syndr 40:161-8. 2005To assess the rate of progression of lipodystrophy and the associated metabolic disturbances over a 2-year period in children and to assess risk factors associated with lipodystrophy and metabolic disturbances.
- Impaired glucose phosphorylation and transport in skeletal muscle cause insulin resistance in HIV-1-infected patients with lipodystrophyGeorg M N Behrens
Department of Clinical Immunology, Hannover Medical School, Hannover, Germany
J Clin Invest 110:1319-27. 2002..Patients receiving HAART had signs of lipodystrophy as confirmed by dual energy x-ray absorptiometry...
- Risk of lipodystrophy in HIV-1-infected patients treated with protease inhibitors: a prospective cohort studyE Martinez
Department of Infectious Diseases, Institut d Investigacions Biomèdiques August Pi i Sunyer Hospital Clínic Universitari, Barcelona, Spain
Lancet 357:592-8. 2001Risk factors for lipodystrophy in patients infected with HIV-1 treated with highly active antiretroviral therapy (HAART) containing HIV-1 protease inhibitors are poorly understood...
- Mitochondrial DNA content, an inaccurate biomarker of mitochondrial alteration in human immunodeficiency virus-related lipodystrophyMin Ji Kim
INSERM, U582, Paris, F 75013 France
Antimicrob Agents Chemother 52:1670-6. 2008..The preservation of mtDNA-dependent mitochondrial functions occurred despite severe mtDNA depletion. The presence of significant oxidative stress and apoptosis did not correlate with the mtDNA content...
- Decreased IRS-2 and increased SREBP-1c lead to mixed insulin resistance and sensitivity in livers of lipodystrophic and ob/ob miceI Shimomura
Department of Molecular Genetics, Howard Hughes Medical Institute, University of Texas Southwestern Medical Center, Dallas 75390, USA
Mol Cell 6:77-86. 2000In mice with too little fat (lipodystrophy) or too much fat (ob/ob), leptin deficiency leads to hyperglycemia, hyperinsulinemia, and insulin resistance...
- HIV protease inhibitor substitution in patients with lipodystrophy: a randomized, controlled, open-label, multicentre studyA Carr
HIV, Immunology and Infectious Disease Clinical Services Unit, St. Vincent's Hospital, Sydney, Australia
AIDS 15:1811-22. 2001BACKGROUND: Lipodystrophy, dyslipidaemia and insulin resistance often complicate protease inhibitor-containing antiretroviral therapy...
- Highly active antiretroviral-treated HIV-infected children show fat distribution changes even in absence of lipodystrophyP Brambilla
Department of Pediatrics, Scientific Institute H S. Raffaele, University of Milan, Milan, Italy
AIDS 15:2415-22. 2001..children (HIV+) receiving highly active antiretroviral therapy (HAART) with (LD+) and without (LD-) lipodystrophy are lacking...
- Lipodystrophy in HIV-infected children is associated with high viral load and low CD4+ -lymphocyte count and CD4+ -lymphocyte percentage at baseline and use of protease inhibitors and stavudineS M Arpadi
St Luke s Roosevelt Hospital Center, Columbia University College of Physicians and Surgeons, New York City, New York, USA
J Acquir Immune Defic Syndr 27:30-4. 2001..Eight (29%) children experienced lipodystrophy (LD), defined as extremity lipoatrophy together with trunk fat accumulation...
- Trans-10,cis-12-CLA-caused lipodystrophy is associated with profound changes of fatty acid profiles of liver, white adipose tissue and erythrocytes in mice: possible link to tissue-specific alterations of fatty acid desaturationAnke Jaudszus
Institute of Nutrition, Friedrich Schiller University, Dornburger Strasse 24, Jena, Germany
Ann Nutr Metab 57:103-11. 2010..These profound changes in fatty acid composition of lipogenic organs due to t10,c12-CLA intake may be the consequence of functional alterations of lipid metabolism...
- Role of Chromogranin A in Metabolic SyndromeSushil K Mahata; Fiscal Year: 2013DESCRIPTION (provided by applicant): Project Summary: Obesity, lipodystrophy, diabetes and hypertension collectively constitute "Metabolic Syndrome" (MS)...
- Role of MicroRNA mi R-33 in Controlling Cholesterol/Lipid HomeostasisAnders M Naar; Fiscal Year: 2010..obesity, type II diabetes, and hypertension (all associated with metabolic syndrome), as well as lipodystrophy, Alzheimers Disease, and certain cancers, underscoring the importance of understanding fully how cholesterol ..
- A Prospective Study of Adiposity and Subclinical Coronary Artery DiseaseCHRISTINA LYNN WASSEL; Fiscal Year: 2010..Additionally, recent evidence suggests that the failure to develop adequate adipose tissue mass (lipodystrophy) and instead storing fat ectopically (i.e...
- REGULATION OF PHOSPHOLIPID SYNTHESISGeorge M Carman; Fiscal Year: 2013..The loss of lipin 1 in mice causes lipodystrophy, insulin resistance, and peripheral neuropathy, while overexpression of lipin 1 causes obesity and insulin ..
- Cellular Mechanisms for Increased Gluconeogenesis in Type 2 DiabetesVarman T Samuel; Fiscal Year: 2013..against adiposity but leads to nonalcoholic fatty liver disease and hepatic insulin resistance, akin to a mild lipodystrophy. In contrast, PC ASO also protects against adiposity but decreased liver fat and improved hepatic insulin ..
- Human Cell-Based Models of Primary Adipocyte DisordersCHAD ALBERT COWAN; Fiscal Year: 2013..Primary adipocyte disorders such as lipodystrophy have gained less attention than obesity, namely because of their lower prevalence...
- New Approaches to the Evaluation and Treatment of AcromegalyPamela U Freda; Fiscal Year: 2013..findings have led us to hypothesize that a GH-IGF-I excess specific dysregulation of adipose tissue (AT) and lipodystrophy occur which is characterized by reduced central AT depots yet increased AT in muscle and may contribute to ..
- Kinetics of DNA polymerase gamma upon mutation and nucleoside analog exposureCHRISTAL DYANE SOHL; Fiscal Year: 2013..similar to those seen in progressive external ophthalmoplegia can result, as well as lactic acidosis and lipodystrophy, and toxicity can be severe enough to require the halt of this type of treatment...
- Viral mechanisms of adipocyte dysfuntion: Role of Vpr.Ashok Balasubramanyam; Fiscal Year: 2012..dysfunction is the fundamental basis of widespread metabolic diseases that present clinically as obesity or lipodystrophy. Inflammatory processes contribute significantly to adipocyte dysfunction, leading to dyslipidemia, ..
- PHOSPHOLIPID METABOLISM AND MEMBRANE FUNCTIONGeorge M Carman; Fiscal Year: 2013..shown that genetic defects in lipin 1 and lipin 2 are manifested in several metabolic diseases that include lipodystrophy, obesity, peripheral neuropathy, myoglobinuria, and inflammation...
- Is HIV-associated lipodystrophy a risk factor for cirrhosis of the liver?George Ioannou; Fiscal Year: 2013DESCRIPTION (provided by applicant): HIV-1 and highly active antiretroviral treatment (HAART)-Associated Lipodystrophy Syndrome (HALS) is characterized by loss of subcutaneous adipose tissue and accumulation of intra-abdominal adipose ..
- A Simple Cellular Model for LipodystrophyJoel M Goodman; Fiscal Year: 2013..In contrast, some individuals cannot store any fat properly, a condition known as lipodystrophy;health outcomes of these patients are even more serious and often lead to death at an early age...
- Nuclear mechanics and mechanotransduction in muscular laminopathiesJan Lammerding; Fiscal Year: 2013..diseases, including Emery-Dreifuss muscular dystrophy, limb-girdle muscular dystrophy and familial partial lipodystrophy. Despite recent advances, the mechanism(s) responsible for the often muscle-specific defects caused by ..
- Mitochondrial Determinants of Metabolic Disease in HIV-Infected ChildrenTracie L Miller; Fiscal Year: 2013..in turn increase mitochondrial reactive oxygen stress and lactate levels, resulting in insulin resistance and lipodystrophy. We further hypothesize that levels of OXPHOS proteins/enzyme activities in peripheral blood mononuclear cells ..
- Regulation and Function of MGAT in Hepatic TAG Synthesis and Metabolic DiseaseANGELA MARIE HALL; Fiscal Year: 2013..The fld phenotype results from mutations in the gene encoding lipin 1 leading to lipodystrophy, hepatic steatosis, and hyperlipidemia...
- Designing HIV Protease Inhibitors with Lower Dosing Requirements and Lower ToxiciMitchell W Mutz; Fiscal Year: 2013..PI's) include hepatotoxicity, carotid artery thickening, hypercholesterolemia, hyperglycemia, and lipodystrophy. The elimination of P450 interactions for PI's is a high-priority research focus at several ..
- Effects of Recombinant IGF-I in HIV Associated Metabolic DiseaseRoy J Kim; Fiscal Year: 2011..The purpose of this study is to test the efficacy of recombinant IGF-I in the treatment of HIV associated lipodystrophy syndrome...
- New Approaches to the Evaluation and Treatment of AcromegalyPamela U Freda; Fiscal Year: 2013..data suggest, we hypothesize that a GH-IGF-I excess specific dysregulation of adipose tissue (AT) and lipodystrophy occur...
- Energy Expenditure in HIV LipodystrophyLisa A Kosmiski; Fiscal Year: 2012HIV lipodystrophy (LD) is a common complication of HIV infection and its therapy. It is characterized by extensive subcutaneous fat loss and is associated with insulin resistance, diabetes and hypertriglyceridemia...
- Effects of recombinant human leptin in nonalcoholic fatty liver disease (NAFLD)Elif Arioglu Oral; Fiscal Year: 2013..We showed that leptin therapy in the setting of non-HIV lipodystrophy reverses insulin resistance, hypertriglyceridemia and nonalcoholic fatty liver disease (NAFLD)...
- Mechanistic studies of a PPAR-g mutation that causes lipodystrophy &diabetesOLGA IGOR ASTAPOVA; Fiscal Year: 2013..shed light on this issue by studying a unique, recently discovered PPARg mutation that causes familial partial lipodystrophy (FPLD), an extreme form of type II diabetes...
- Augmenting Pulsatile Growth Hormone: Metabolic Effects in HIV-InfectionTAKARA LEAH STANLEY; Fiscal Year: 2013..In the current proposal, Dr. Stanley will explore these themes through the model of HIV-lipodystrophy. As she progresses in her career, she plans to expand her field of investigation to pediatric conditions of ..
- MMP14-dependent regulation of adipose tissue remodeling and function (R01)Tae Hwa Chun; Fiscal Year: 2013..fibrosis) is observed in insulin-resistant individuals with inappropriate fat mass (obesity and lipodystrophy). The molecular mechanism underlying the formation of peri-adipocyte fibrosis, however, is poorly understood...
- Mechanisms of HIV Protease Inhibitor-Induced Lipid Dysregulation in AdipocytesBETH S ZHA; Fiscal Year: 2012..Dyslipidemia, insulin resistance, and lipodystrophy observed in patients receiving HAART have been linked to HIV protease inhibitors (PI)...
- MULTICENTER AIDS COHORT STUDYCharles R Rinaldo; Fiscal Year: 2013..psychological and behavioral predictors, examine the effects of HIV and prolonged HIV therapy exposure on lipodystrophy, diabetes, cardiovascular disease, liver disease, malignancies, neurocognitive function, substance use, kidney ..
- Molecular Physiology of Liver Fatty Acid TransportersAndreas Stahl; Fiscal Year: 2009Accumulation of hepatic lipids either as a result of obesity or lipodystrophy has been linked to the development of hepatic insulin resistance...
- Fat Cell Size, Overfeeding &Ectopic FatEric Ravussin; Fiscal Year: 2011..3. Subjects with acquired total lipodystrophy are severely diabetic. 4...
- Adiponectin replacement Therapy for HAND?Annadora J Bruce-Keller; Fiscal Year: 2013..Many ART drugs can cause clinically severe metabolic co-morbidities, including lipodystrophy, dyslipidemia, and insulin resistance, but it is not known how such metabolic co-morbidities relate to HAND...
- Long-acting Growth Hormone for Treating HIV-Associated Adipose Redistribution SynGeorge Cox; Fiscal Year: 2009DESCRIPTION (provided by applicant): HIV-associated adipose redistribution syndrome (HARS), a form of lipodystrophy, is a common problem in HIV patients on highly active antiretroviral therapy and occurs as a side-effect of their anti-..
- HIV associated Lipodystrophy Syndrome in Children: Role of nutrition, ART &GenesSoumya Swaminathan; Fiscal Year: 2013..Various risk factors and lipid gene polymorphism will be correlated with lipodystrophy, lipoatrophy, dyslipidemia and insulin resistance...
- Lipid droplet morphology and triglyceride storageVishwajeet Puri; Fiscal Year: 2012..We also identified a mutation in FSP27 which causes partial lipodystrophy and insulin resistance (IR) in humans...
- Role of lipid intermediates in the limited human adipose tissue expandability assAngela R Subauste; Fiscal Year: 2013..of an extreme phenotype of insulin resistance characterized by the absence of fat: congenital generalized lipodystrophy secondary to the AGPAT2 mutation...
- Lipid signaling pathways regulating mitochondrial morphology, energetics, and movMichael A Frohman; Fiscal Year: 2012..Lipin 1 mutations in mice and humans have been shown to cause a form of lipodystrophy with similarities to Type II diabetes...
- Nucleoside Transporters In HAART Mitochondrial ToxicityJohn Buolamwini; Fiscal Year: 2006..major toxicities including liver damage, neuoropathy, pancreatitis, myopathy, neuropathy, lactic acidemia and lipodystrophy, some of which could result in patient fatalities...
- Cytoskeletal force generation on the nucleusTanmay P Lele; Fiscal Year: 2013..dystrophy, dilated cardiomyopathy, Hutchinson-Gilford progeria syndrome and Dunnigan-type familial partial lipodystrophy. Although the molecular mechanism underlying these diseases remains unclear, it has been hypothesized that ..
- Physiological Significance of Conjugated Double Bonds in Membrane LipidsPapasani Subbaiah; Fiscal Year: 2009..are controversial, and in addition to the beneficial effects, many undesirable effects, including fatty liver, lipodystrophy, and insulin resistance have also been reported...
- MOLECULAR BASIS OF HIV LIPODYSTROPHY: ROLE OF VPRAshok Balasubramanyam; Fiscal Year: 2003..objective of the 2 R01 projects in this RFA is to specify a key molecular mechanisms underlying HIV-associated lipodystrophy syndrome (HLS), and the consequent metabolic derangements that lead to its clinical manifestations...
- MG53-Mediated Membrane Repair in Muscle Physiology and DiseaseJianjie Ma; Fiscal Year: 2013..Since mutations in PTRF have been identified in human disorders with lipodystrophy and muscular dystrophy, conditions that often involve compromised membrane integrity or resealing capacity, ..
- Induced pluripotent stem cell therapy for lipodystrophySusan M Majka; Fiscal Year: 2013..iPS cell derived mesenchymal stem cells and adipocytes offer the potential for cell-based therapy to treat lipodystrophy. We propose to create a set of mouse iPS cell models of lipodystrophy using transgene-free approaches for the ..
- Metabolic and Nutritional Effects of ART in ChildrenMeera Chhagan; Fiscal Year: 2009..changes in the 2 years following initiation of ART;2) describe the incidence of metabolic derangements and lipodystrophy in these children and temporal relationship with commencement of ART;3) describe the relationship between ..
- INSULIN RESISTANCE IN THE HIV LIPODYSTROPHY SYNDROMEColleen Hadigan; Fiscal Year: 2004DESCRIPTION (Applicant's abstract) The lipodystrophy syndrome is a newly recognized complication of HIV disease, which affects up to half of all HIV-infected patients on potent antiretroviral therapy, and for which there is no effective ..
- Antiadipogenic Influence of HIV Protease InhibitorsM Lane; Fiscal Year: 2005The primary objective of the proposed studies is to elucidate the molecular basis of the lipodystrophy syndrome (LDS) in HIV+ patients treated with HIV protease inhibitors (PIs)...
- Hutchinson Gilford Progeria Syndrome and AtherosclerosisStephen Young; Fiscal Year: 2009..lamin A/C, have been shown to cause several forms of muscular dystrophy, a cardiomyopathy, familial partial lipodystrophy, one form of Charcot Marie Tooth neuropathy, mandibuloacral dysplasia, and Hutchinson Gilford progeria ..
- 2002 Gordon Research Conf. on Intermediate FilamentsPIERRE COULOMBE; Fiscal Year: 2002..g., amyotrophic lateral sclerosis; Alexander's diseases), and even adipose tissue (e.g., lipodystrophy)...
- MECHANISM OF PI-RELATED DYSLIPIDEMIA AND ATHEROSCLEROSISDaniel Rader; Fiscal Year: 2004..Two types of studies will be performed: a cross-sectional study in HIV patients on PI therapy with lipodystrophy (LD), patients on PI therapy without LD, and patients not on PI therapy without LD as well as control subjects:..
- Protease Inhibitor Related Adipogenesis in HIV InfectionKrishna Agrawal; Fiscal Year: 2003..However, long-term use of PIs has resulted in side effects such as peripheral lipodystrophy, hyperlipidemia, insulin resistance, and disruption of the adipogenic process...
- Development of a Biomarker for Fatigue in HIV/AIDSJoachim Voss; Fiscal Year: 2007..The strongest predictors were symptoms such as fatigue (34% of the variance), lipodystrophy (1.5%), neuropathy (1.0%), depression (1.3%), and shortness of breath (2.5%)...
- SUN-nesprin complexes in human laminopathiesBrian Burke; Fiscal Year: 2009..autosomal dominant Emery-Dreifuss muscular dystrophy (AD-EDMD), dilated cardiomyopathy, Dunnigan type familial lipodystrophy and Hutchinson Gilford progeria syndrome...
- Growth Hormone Releasing Hormone in Patients with HIV LipodystrophyTakara Stanley; Fiscal Year: 2009As HIV has evolved into a chronic disease, HIV-associated fat redistribution, or HIV lipodystrophy, has become a significant morbidity...
- BODY COMPOSITION: METHODS, MODEL & CLINICAL APPLICATIONDympna Gallagher; Fiscal Year: 2005..The newly reported HIV-lipodystrophy syndrome and its relationship to phenotypically similar subjects without viral illnesses, both before and ..
- The Role of Cholesterol in HIV Pathogenesis: Implications for NPC2EBONY MICHELLE COLEMAN; Fiscal Year: 2010..HIV-1 induced lipodystrophy and the consequent cardiovascular syndromes, as well as the critical role of cholesterol in viral pathogenesis,..
- Can IGF-I/IGFBP-3 Reverse Central Fat Accumulation?Morris Schambelan; Fiscal Year: 2005..fat accumulation, findings reminiscent of metabolic syndrome X and commonly referred to as HIV-associated lipodystrophy syndrome...
- HIV Protease Inhibitors & Glucose TransportMike Mueckler; Fiscal Year: 2007..HAART is associated with the development of numerous metabolic abnormalities, including peripheral lipodystrophy, hyperlipemia, insulin resistance, glucose intolerance, and type 2 diabetes...
- Leptin Treatment of HIV-Associated LipodystrophyMorris Schambelan; Fiscal Year: 2004..fat accumulation, findings reminiscent of syndrome X and commonly referred to as the HIV-associated lipodystrophy syndrome...
- Mechanisms of Atherosclerosis and CVD in HIV+ WomenRobert Kaplan; Fiscal Year: 2009..HIV lipodystrophy syndrome, either due to medications or HIV itself, may also be a contributing factor...
- Mitochondrial dysfunction in HAART: Point of care testsMichael Marusich; Fiscal Year: 2005..effective treatment for HIV infection but can cause serious metabolic complications including lacticacidemia, lipodystrophy, peripheral neuropathies, and cardiomyopathies...
- qHTS to Identify Modulators of Lipid StorageMathias Beller; Fiscal Year: 2009..lipid stores have dramatic consequences for the organism, as demonstrated in human diseases including lipodystrophy, atherosclerosis or obesity...
- A Physical Activity & Nutrition Intervention in HIVBarbara Smith; Fiscal Year: 2004..One new syndrome associated with the antiretroviral therapy, lipodystrophy or fat redistribution, includes peripheral wasting, central fat accumulation, elevated blood lipids, glucose ..
- MENTORED PATIENT ORIENTED RESEARCH CAREER DEVELOPMENT AWRuth Berggren; Fiscal Year: 2004..Evidence suggests that PI use could lead to lipodystrophy, a syndrome including diabetes, disfiguring body habitus changes, and disorders of lipid metabolism...
- Growth Hormone Dynamics in HIV LipodystrophyGary Meininger; Fiscal Year: 2001..whereas abdominal and peripheral subcutaneous fat are significantly reduced in patients with HIV-related lipodystrophy. Recent studies demonstrate reduced growth hormone (GH) levels in patients with HIV lipodystrophy compared to ..
- FUNCTIONAL ANALYSIS OF SMAF1, AN OBESITY CANDIDATE GENECYNTHIA SMAS; Fiscal Year: 2005..Studies in human lipodystrophy and in mouse models have demonstrated that a dearth of adipose tissue also carries health risks, most notably ..
- The Role of DGAT1 In Muscle LipotoxicityYi Hao Yu; Fiscal Year: 2006..They are commonly seen as complications of obesity, lipodystrophy, and the metabolic syndrome...
- PROTEASE INHIBITOR RELATED ATHEROSCLEROSIS IN HIVAndrew Carr; Fiscal Year: 2005....
- Lipoprotein Metabolism 2008 Gordon Research ConferenceRobert Hegele; Fiscal Year: 2008..End of Abstract) [unreadable] [unreadable] [unreadable]..
- Therapeutic Approaches to HAART-Induced LipodystrophyAbhimanyu Garg; Fiscal Year: 2006..However, such therapy causes development of 'HAART-induced lipodystrophy' characterized by marked loss of subcutaneous fat from the face, arms, legs and hips, accumulation of fat ..