lipodystrophy

Summary

Summary: A collection of heterogenous conditions resulting from defective LIPID METABOLISM and characterized by ADIPOSE TISSUE atrophy. Often there is redistribution of body fat resulting in peripheral fat wasting and central adiposity. They include generalized, localized, congenital, and acquired lipodystrophy.

Top Publications

  1. Caron Debarle M, Lagathu C, Boccara F, Vigouroux C, Capeau J. HIV-associated lipodystrophy: from fat injury to premature aging. Trends Mol Med. 2010;16:218-29 pubmed publisher
    ..However, many patients under cART display HIV-associated lipodystrophy. Moreover, some develop early age-related comorbidities...
  2. Capanni C, Squarzoni S, Cenni V, D Apice M, Gambineri A, Novelli G, et al. Familial partial lipodystrophy, mandibuloacral dysplasia and restrictive dermopathy feature barrier-to-autointegration factor (BAF) nuclear redistribution. Cell Cycle. 2012;11:3568-77 pubmed publisher
    ..dermopathy (RD), as well as the accumulation of mutated forms of prelamin A identified in familial partial lipodystrophy (FPLD) and mandibuloacral dysplasia (MADA), affect the nuclear localization of barrier-to-autointegration ..
  3. Aotani D, Ebihara K, Sawamoto N, Kusakabe T, Aizawa Abe M, Kataoka S, et al. Functional magnetic resonance imaging analysis of food-related brain activity in patients with lipodystrophy undergoing leptin replacement therapy. J Clin Endocrinol Metab. 2012;97:3663-71 pubmed publisher
    b>Lipodystrophy is a disease characterized by a paucity of adipose tissue and low circulating concentrations of adipocyte-derived leptin. Leptin-replacement therapy improves eating and metabolic disorders in patients with lipodystrophy...
  4. Takenouchi T, Hida M, Sakamoto Y, Torii C, Kosaki R, Takahashi T, et al. Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype. Am J Med Genet A. 2013;161A:3057-62 pubmed publisher
    Recently, three marfanoid patients with congenital lipodystrophy and a neonatal progeroid appearance were reported...
  5. Chong A, Lupsa B, Cochran E, Gorden P. Efficacy of leptin therapy in the different forms of human lipodystrophy. Diabetologia. 2010;53:27-35 pubmed publisher
    b>Lipodystrophy is a rare disorder characterised by loss of adipose tissue, hypoleptinaemia, severe insulin resistance, diabetes and dyslipidaemia...
  6. Savage D. Mouse models of inherited lipodystrophy. Dis Model Mech. 2009;2:554-62 pubmed publisher
    ..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...
  7. Park J, Chong A, Cochran E, Kleiner D, Haller M, Schatz D, et al. Type 1 diabetes associated with acquired generalized lipodystrophy and insulin resistance: the effect of long-term leptin therapy. J Clin Endocrinol Metab. 2008;93:26-31 pubmed
    Acquired generalized lipodystrophy (AGL) is marked by severe insulin resistance and hypertriglyceridemia. Rarely, AGL and type 1 diabetes (T1D) coexist...
  8. Kanazawa N. Nakajo-Nishimura syndrome: an autoinflammatory disorder showing pernio-like rashes and progressive partial lipodystrophy. Allergol Int. 2012;61:197-206 pubmed publisher
  9. Lombardi F, Gullotta F, Columbaro M, Filareto A, D Adamo M, Vielle A, et al. Compound heterozygosity for mutations in LMNA in a patient with a myopathic and lipodystrophic mandibuloacral dysplasia type A phenotype. J Clin Endocrinol Metab. 2007;92:4467-71 pubmed
    ..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...

More Information

Publications62

  1. Zhang J, Henagan T, Gao Z, Ye J. Inhibition of glyceroneogenesis by histone deacetylase 3 contributes to lipodystrophy in mice with adipose tissue inflammation. Endocrinology. 2011;152:1829-38 pubmed publisher
    ..Tg mice suffer a mild lipodystrophy and exhibit deficiency in adipocyte differentiation...
  2. Savage D, Semple R, Clatworthy M, Lyons P, Morgan B, Cochran E, et al. Complement abnormalities in acquired lipodystrophy revisited. J Clin Endocrinol Metab. 2009;94:10-6 pubmed publisher
    b>Lipodystrophy is a heterogeneous condition characterized by an inherited or acquired deficiency in the number of adipocytes required for the storage of energy as triglycerides...
  3. Ramot Y, Czarnowicki T, Maly A, Navon Elkan P, Zlotogorski A. Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome: a case report. Pediatr Dermatol. 2011;28:538-41 pubmed publisher
    Chronic 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 ..
  4. Capeau J, Magré J, Caron Debarle M, Lagathu C, Antoine B, Bereziat V, et al. Human lipodystrophies: genetic and acquired diseases of adipose tissue. Endocr Dev. 2010;19:1-20 pubmed publisher
    ..A number of lipodystrophic patients remain undiagnosed at the genetic level. Acquired lipodystrophy can be generalized, resembling congenital forms, or partial, as the Barraquer-Simons syndrome, with loss of ..
  5. Agarwal A, Kazachkova I, Ten S, Garg A. Severe mandibuloacral dysplasia-associated lipodystrophy and progeria in a young girl with a novel homozygous Arg527Cys LMNA mutation. J Clin Endocrinol Metab. 2008;93:4617-23 pubmed publisher
    ..of a 7-yr-old girl with MAD belonging to a consanguineous pedigree and with severe progeroid features and lipodystrophy. The patient developed mandibular hypoplasia during infancy and joint stiffness, skin thinning, and mottled ..
  6. Weedon M, Ellard S, Prindle M, Caswell R, Lango Allen H, Oram R, et al. An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy. Nat Genet. 2013;45:947-50 pubmed publisher
    ..This mutation causes a distinct multisystem disorder that includes subcutaneous lipodystrophy, deafness, mandibular hypoplasia and hypogonadism in males...
  7. Barbaro G. Visceral fat as target of highly active antiretroviral therapy-associated metabolic syndrome. Curr Pharm Des. 2007;13:2208-13 pubmed
    HIV-associated lipodystrophy or lipoatrophy, unreported before the introduction of highly active antiretroviral therapy (HAART), was first described in 1998, and has a prevalence ranging from 18% to 83%...
  8. Freitas P, Carvalho D, Souto S, Santos A, Xerinda S, Marques R, et al. Impact of Lipodystrophy on the prevalence and components of metabolic syndrome in HIV-infected patients. BMC Infect Dis. 2011;11:246 pubmed publisher
    In HIV-infected patients, combination antiretroviral therapy (cART) is associated with clinical lipodystrophy (CL) and metabolic abnormalities (MA)...
  9. Duan S, Ivashchenko C, Whitesall S, D Alecy L, Duquaine D, Brosius F, et al. Hypotension, lipodystrophy, and insulin resistance in generalized PPARgamma-deficient mice rescued from embryonic lethality. J Clin Invest. 2007;117:812-22 pubmed
    ..PPARgamma inactivation caused severe lipodystrophy and insulin resistance; surprisingly, it also caused hypotension...
  10. Bayrakci Tunay V, Akbayrak T, Bakar Y, Kayihan H, Ergun N. Effects of mechanical massage, manual lymphatic drainage and connective tissue manipulation techniques on fat mass in women with cellulite. J Eur Acad Dermatol Venereol. 2010;24:138-42 pubmed publisher
    ..To evaluate and compare the effectiveness of three different noninvasive treatment techniques on fat mass and regional fat thickness of the patients with cellulites...
  11. Guo T, Bond N, Jou W, Gavrilova O, Portas J, McPherron A. Myostatin inhibition prevents diabetes and hyperphagia in a mouse model of lipodystrophy. Diabetes. 2012;61:2414-23 pubmed
    ..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...
  12. Domingo P, Cabeza M, Pruvost A, Torres F, Salazar J, del Mar Gutierrez M, et al. Association of thymidylate synthase gene polymorphisms with stavudine triphosphate intracellular levels and lipodystrophy. Antimicrob Agents Chemother. 2011;55:1428-35 pubmed publisher
    ..0; 95% CI = 2.09 to 108.0; P = 0.0032). Our preliminary data show that polymorphisms in the thymidylate synthase gene are strongly associated with d4T-TP intracellular levels and with development of HALS. ..
  13. Torrelo A, Patel S, Colmenero I, Gurbindo D, Lendinez F, Hernandez A, et al. Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome. J Am Acad Dermatol. 2010;62:489-95 pubmed publisher
    ..recurrent fevers, annular violaceous plaques, persistent violaceous eyelid swelling, low weight and height, lipodystrophy, hepatomegaly, and a range of visceral inflammatory manifestations...
  14. Kampira E, Kumwenda J, van Oosterhout J, Dandara C. Mitochondrial subhaplogroups and differential risk of stavudine-induced lipodystrophy in Malawian HIV/AIDS patients. Pharmacogenomics. 2013;14:1999-2004 pubmed publisher
    b>Lipodystrophy remains a significant problem in HIV/AIDS patients, especially those on regimens containing either protease inhibitors or thymidine analogs (stavudine or zidovudine)...
  15. Simha V, Garg A. Inherited lipodystrophies and hypertriglyceridemia. Curr Opin Lipidol. 2009;20:300-8 pubmed publisher
    ..and treatment of these disorders based on the current understanding of the biologic role of these lipodystrophy genes...
  16. Qiu W, Wee K, Takeda K, Lim X, Sugii S, Radda G, et al. Suppression of adipogenesis by pathogenic seipin mutant is associated with inflammatory response. PLoS ONE. 2013;8:e57874 pubmed publisher
    While pathogenic mutations in BSCL2/Seipin cause congenital generalized lipodystrophy, the underlying mechanism is largely unknown...
  17. Zaremba Czogalla M, Dubińska Magiera M, Rzepecki R. Laminopathies: the molecular background of the disease and the prospects for its treatment. Cell Mol Biol Lett. 2011;16:114-48 pubmed publisher
    ..In this review, we discuss the current state of knowledge about laminopathies, the molecular mechanisms behind the development of particular phenotypes, and the prospects for stem cell and/or gene therapy treatments...
  18. Tan K, Kimber W, Luan J, Soos M, Semple R, Wareham N, et al. Analysis of genetic variation in Akt2/PKB-beta in severe insulin resistance, lipodystrophy, type 2 diabetes, and related metabolic phenotypes. Diabetes. 2007;56:714-9 pubmed
    ..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 ..
  19. Veloso S, Escote X, Ceperuelo Mallafré V, López Dupla M, Peraire J, Vilades C, et al. Leptin and adiponectin, but not IL18, are related with insulin resistance in treated HIV-1-infected patients with lipodystrophy. Cytokine. 2012;58:253-60 pubmed publisher
    ..Treated HIV-1-infected patients with lipodystrophy may develop insulin resistance and proatherogenic dyslipidemia...
  20. Nguyen D, Leistritz D, Turner L, Macgregor D, Ohson K, Dancey P, et al. Collagen expression in fibroblasts with a novel LMNA mutation. Biochem Biophys Res Commun. 2007;352:603-8 pubmed
  21. Liu Y, Ramot Y, Torrelo A, Paller A, Si N, Babay S, et al. Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity. Arthritis Rheum. 2012;64:895-907 pubmed publisher
    Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE syndrome) is an autoinflammatory syndrome recently described in children...
  22. Lupsa B, Sachdev V, Lungu A, Rosing D, Gorden P. Cardiomyopathy in congenital and acquired generalized lipodystrophy: a clinical assessment. Medicine (Baltimore). 2010;89:245-50 pubmed publisher
    b>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...
  23. Horn D, Robinson P. Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 gene. Am J Med Genet A. 2011;155A:721-4 pubmed publisher
    The association of progeroid features and lipodystrophy was very recently described in a female adult with additional manifestations of Marfan syndrome...
  24. Hayashi Y, Matsuda C, Ogawa M, Goto K, Tominaga K, Mitsuhashi S, et al. Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy. J Clin Invest. 2009;119:2623-33 pubmed publisher
    ..Here, we identified PTRF mutations in 5 nonconsanguineous patients who presented with both generalized lipodystrophy and muscular dystrophy...
  25. Hegele R, Joy T, Al Attar S, Rutt B. Thematic review series: Adipocyte Biology. Lipodystrophies: windows on adipose biology and metabolism. J Lipid Res. 2007;48:1433-44 pubmed
    ..Molecularly characterized forms include Dunnigan-type familial partial lipodystrophy (FPLD), partial lipodystrophy with mandibuloacral dysplasia (MAD), Berardinelli-Seip congenital generalized ..
  26. Shrivastav S, Kino T, Cunningham T, Ichijo T, Schubert U, Heinklein P, et al. Human immunodeficiency virus (HIV)-1 viral protein R suppresses transcriptional activity of peroxisome proliferator-activated receptor {gamma} and inhibits adipocyte differentiation: implications for HIV-associated lipodystrophy. Mol Endocrinol. 2008;22:234-47 pubmed
    HIV-1-infected patients may develop lipodystrophy and insulin resistance...
  27. Milinkovic A, Martinez E, Lopez S, de Lazzari E, Miro O, Vidal S, et al. The impact of reducing stavudine dose versus switching to tenofovir on plasma lipids, body composition and mitochondrial function in HIV-infected patients. Antivir Ther. 2007;12:407-15 pubmed
    ..Although both strategies were associated with a trend toward a decrease in plasma lipids and an increase in body fat, the only significant changes were observed among those who switched to tenofovir. ..
  28. Mory P, Crispim F, Freire M, Salles J, Valerio C, Godoy Matos A, et al. Phenotypic diversity in patients with lipodystrophy associated with LMNA mutations. Eur J Endocrinol. 2012;167:423-31 pubmed publisher
    ..Among the lipodystrophies, LMNA mutations have been reported most frequently in patients with familial partial lipodystrophy (FPLD) of the Dunnigan variety; however, phenotypic heterogeneity in the pattern of body fat loss has been ..
  29. Aurpibul L, Puthanakit T, Taejaroenkul S, Sirisanthana T, Sirisanthana V. Recovery from lipodystrophy in HIV-infected children after substitution of stavudine with zidovudine in a non-nucleoside reverse transcriptase inhibitor-based antiretroviral therapy. Pediatr Infect Dis J. 2012;31:384-8 pubmed publisher
    Substitution of stavudine with zidovudine may lead to recovery from lipodystrophy (LD) in HIV-infected children...
  30. Gao J, Li Y, Fu X, Luo X. A Chinese patient with acquired partial lipodystrophy caused by a novel mutation with LMNB2 gene. J Pediatr Endocrinol Metab. 2012;25:375-7 pubmed
    Acquired partial lipodystrophy (APL) is a rare disorder, mainly characterized by progressive loss of subcutaneous fatty tissue, starting from the face and spreading to the upper part of the body. The etiology of APL is unknown...
  31. Vigouroux C, Caron Debarle M, Le Dour C, Magré J, Capeau J. Molecular mechanisms of human lipodystrophies: from adipocyte lipid droplet to oxidative stress and lipotoxicity. Int J Biochem Cell Biol. 2011;43:862-76 pubmed publisher
    ..Thus, the impaired ability of adipose tissue to safely store triglycerides inside the lipid droplet results in impaired insulin sensitivity and adverted liver, muscles and heart functions leading to early complications. ..
  32. Graul Neumann L, Kienitz T, Robinson P, Baasanjav S, Karow B, Gillessen Kaesbach G, et al. Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene. Am J Med Genet A. 2010;152A:2749-55 pubmed publisher
    We report on a 25-year-old woman with pronounced generalized lipodystrophy and a progeroid aspect since birth, who also had Marfan syndrome (MFS; fulfilling the Ghent criteria) with mild skeletal features, dilated aortic bulb, dural ..
  33. Vantyghem M, Balavoine A, Douillard C, Defrance F, Dieudonné L, Mouton F, et al. How to diagnose a lipodystrophy syndrome. Ann Endocrinol (Paris). 2012;73:170-89 pubmed publisher
    The spectrum of adipose tissue diseases ranges from obesity to lipodystrophy, and is accompanied by insulin resistance syndrome, which promotes the occurrence of type 2 diabetes, dyslipidemia and cardiovascular complications...
  34. Goulbourne C, Vaux D. HIV protease inhibitors inhibit FACE1/ZMPSTE24: a mechanism for acquired lipodystrophy in patients on highly active antiretroviral therapy?. Biochem Soc Trans. 2010;38:292-6 pubmed publisher
    ..However, one of the side effects of this component of combined highly active antiretroviral therapy is lipodystrophy, which affects a large number of the patients taking this class of drug...
  35. Decaudain A, Vantyghem M, Guerci B, Hecart A, Auclair M, Reznik Y, et al. New metabolic phenotypes in laminopathies: LMNA mutations in patients with severe metabolic syndrome. J Clin Endocrinol Metab. 2007;92:4835-44 pubmed
    ..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 ..
  36. Fretz J, Nelson T, Xi Y, Adams D, Rosen C, Horowitz M. Altered metabolism and lipodystrophy in the early B-cell factor 1-deficient mouse. Endocrinology. 2010;151:1611-21 pubmed publisher
    ..In conclusion, the Ebf1-deficient animals exhibit defects in adipose tissue deposition with increased marrow adiposity and impaired glucose mobilization. ..
  37. Samaras K, Wand H, Law M, Emery S, Cooper D, Carr A. 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 compartm. Diabetes Care. 2007;30:113-9 pubmed
    ..of HIV infection with highly active antiretroviral therapy can induce severe metabolic complications including lipodystrophy, dyslipidemia, and insulin resistance...
  38. McGrath N, Krishna G. Gastric bypass for insulin resistance due to lipodystrophy. Obes Surg. 2006;16:1542-4 pubmed
    We report a 41-year-old woman with severe insulin resistance due to partial lipodystrophy, who was successfully treated with gastric bypass surgery.
  39. Hall A, Brunt E, Chen Z, Viswakarma N, Reddy J, Wolins N, et al. Dynamic and differential regulation of proteins that coat lipid droplets in fatty liver dystrophic mice. J Lipid Res. 2010;51:554-63 pubmed publisher
    ..However, whereas perilipin-2 and perilipin-5 levels are primarily regulated posttranslationally, Cide family mRNA expression is induced, suggesting that these families of LDP are controlled at different regulatory checkpoints. ..
  40. Agarwal A, Xing C, Demartino G, Mizrachi D, Hernandez M, Sousa A, et al. PSMB8 encoding the ?5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome. Am J Hum Genet. 2010;87:866-72 pubmed publisher
    ..syndrome characterized by joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP). This revealed only one homozygous region spanning 2...
  41. Rubio Cabezas O, Puri V, Murano I, Saudek V, Semple R, Dash S, et al. Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation in CIDEC. EMBO Mol Med. 2009;1:280-7 pubmed publisher
    ..In this paper we describe a female patient with partial lipodystrophy (affecting limb, femorogluteal and subcutaneous abdominal fat), white adipocytes with multiloculated lipid ..
  42. Muschke P, Kölsch U, Jakubiczka S, Wieland I, Brune T, Wieacker P. The heterozygous LMNA mutation p.R471G causes a variable phenotype with features of two types of familial partial lipodystrophy. Am J Med Genet A. 2007;143A:2810-4 pubmed
    We report on a novel LMNA mutation (p.R471G) in a proband affected by a syndrome comprising partial lipodystrophy, insulin-resistant diabetes, acanthosis nigricans, liver steatosis, muscle weakness, and contractures...
  43. Huang Doran I, Sleigh A, Rochford J, O Rahilly S, Savage D. Lipodystrophy: metabolic insights from a rare disorder. J Endocrinol. 2010;207:245-55 pubmed publisher
    ..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...
  44. Cao H, Alston L, Ruschman J, Hegele R. Heterozygous CAV1 frameshift mutations (MIM 601047) in patients with atypical partial lipodystrophy and hypertriglyceridemia. Lipids Health Dis. 2008;7:3 pubmed publisher
    ..From genomic DNA of patients with atypical lipodystrophy and hypertriglyceridemia who had no mutations in any known lipodystrophy gene, we used DNA sequence analysis ..
  45. Aurpibul L, Puthanakit T, Lee B, Mangklabruks A, Sirisanthana T, Sirisanthana V. Lipodystrophy and metabolic changes in HIV-infected children on non-nucleoside reverse transcriptase inhibitor-based antiretroviral therapy. Antivir Ther. 2007;12:1247-54 pubmed
    ..The objective of this study was to estimate the prevalence of lipodystrophy (LD) and other metabolic changes in HIV-infected children receiving HAART...
  46. Miyamoto L, Ebihara K, Kusakabe T, Aotani D, Yamamoto Kataoka S, Sakai T, et al. Leptin activates hepatic 5'-AMP-activated protein kinase through sympathetic nervous system and ?1-adrenergic receptor: a potential mechanism for improvement of fatty liver in lipodystrophy by leptin. J Biol Chem. 2012;287:40441-7 pubmed publisher
    ..Hepatic AMPK plays significant roles in the pathophysiology of lipodystrophy and metabolic action of leptin. Leptin is an adipocyte-derived hormone that regulates energy homeostasis...
  47. Carboni N, Porcu M, Mura M, Cocco E, Marrosu G, Maioli M, et al. Evolution of the phenotype in a family with an LMNA gene mutation presenting with isolated cardiac involvement. Muscle Nerve. 2010;41:85-91 pubmed publisher
    ..One of the 3 longest surviving relatives manifested late lipodystrophy, and the other 2 had lipodystrophy, insulin-resistant diabetes, and distal peripheral neuropathy...
  48. Dutchak P, Katafuchi T, Bookout A, Choi J, Yu R, Mangelsdorf D, et al. Fibroblast growth factor-21 regulates PPAR? activity and the antidiabetic actions of thiazolidinediones. Cell. 2012;148:556-67 pubmed publisher
    ..Adding back FGF21 prevents sumoylation and restores PPAR? activity. Collectively, these results reveal FGF21 as a key mediator of the physiologic and pharmacologic actions of PPAR?. ..
  49. Kim S, Huang L, Snow K, Ablamunits V, Hasham M, Young T, et al. A mouse model of conditional lipodystrophy. Proc Natl Acad Sci U S A. 2007;104:16627-32 pubmed
    ..We report here the generation and analysis of Pparg(ldi), a targeted allele that confers conditional dominant lipodystrophy in mice...
  50. Rochford J. Molecular mechanisms controlling human adipose tissue development: insights from monogenic lipodystrophies. Expert Rev Mol Med. 2010;12:e24 pubmed publisher
    ..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...
  51. Fawcett K, Grimsey N, Loos R, Wheeler E, Daly A, Soos M, et al. Evaluating the role of LPIN1 variation in insulin resistance, body weight, and human lipodystrophy in U.K. Populations. Diabetes. 2008;57:2527-33 pubmed publisher
    Loss of lipin 1 activity causes lipodystrophy and insulin resistance in the fld mouse, and LPIN1 expression and common genetic variation were recently suggested to influence adiposity and insulin sensitivity in humans...
  52. Herrero L, Shapiro H, Nayer A, Lee J, Shoelson S. Inflammation and adipose tissue macrophages in lipodystrophic mice. Proc Natl Acad Sci U S A. 2010;107:240-5 pubmed publisher
    b>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, ..
  53. Luther J, Driessler F, Megges M, Hess A, Herbort B, Mandic V, et al. Elevated Fra-1 expression causes severe lipodystrophy. J Cell Sci. 2011;124:1465-76 pubmed publisher
    ..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 ..