Mouse models of lipodystrophy and their significance in understanding fat regulation

Current Topics in Developmental Biology

Volumn 109, Issue , 2014, Pages 53-96

  Rochford, Justin J ^a  

^a ROWETT RESEARCH INSTITUTE   (United Kingdom)

Author keywords

Adipocytes; Adipogenesis; BSCL; CGL; FPLD; Lipids; Lipodystrophy; Metabolic disease; Obesity

Indexed keywords

2-ACYLGLYCEROPHOSPHATE ACYLTRANSFERASE; ACYLTRANSFERASE; AKT2 PROTEIN, MOUSE; BSCL2 PROTEIN, HUMAN; CARRIER PROTEIN; CAV1 PROTEIN, HUMAN; CAVEOLIN 1; FAT-SPECIFIC PROTEIN 27, MOUSE; GUANINE NUCLEOTIDE BINDING PROTEIN GAMMA SUBUNIT; LAMIN A; LMNA PROTEIN, MOUSE; PERILIPIN 1; PEROXISOME PROLIFERATOR ACTIVATED RECEPTOR GAMMA; PHOSPHOPROTEIN; PROTEIN; PROTEIN KINASE B; PTRF PROTEIN, HUMAN; RNA BINDING PROTEIN;

ADIPOGENESIS; ADIPOSE TISSUE; ANIMAL; BIOLOGICAL MODEL; DISEASE MODEL; GENETICS; HUMAN; KNOCKOUT MOUSE; LIPID METABOLISM; LIPODYSTROPHY; MOUSE; PATHOPHYSIOLOGY; PHYSIOLOGY;

ACYLTRANSFERASES; ADIPOGENESIS; ADIPOSE TISSUE; ANIMALS; CARRIER PROTEINS; CAVEOLIN 1; DISEASE MODELS, ANIMAL; GTP-BINDING PROTEIN GAMMA SUBUNITS; HUMANS; LAMIN TYPE A; LIPID METABOLISM; LIPODYSTROPHY; MICE; MICE, KNOCKOUT; MODELS, BIOLOGICAL; PHOSPHOPROTEINS; PPAR GAMMA; PROTEINS; PROTO-ONCOGENE PROTEINS C-AKT; RNA-BINDING PROTEINS;

EID: 84902515114     PISSN: 00702153     EISSN: None     Source Type: Book Series    
DOI: 10.1016/B978-0-12-397920-9.00005-6     Document Type: Chapter

References (167)

1. Aboulaich N., Vener A.V., Stralfors P. Hormonal control of reversible translocation of perilipin B to the plasma membrane in primary human adipocytes. Journal of Biological Chemistry 2006, 281:11446-11449.
2. Agarwal A.K., Arioglu E., De Almeida S., Akkoc N., Taylor S.I., Bowcock A.M., et al. AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34. Nature Genetics 2002, 31:21-23.
3. Agarwal A.K., Fryns J.P., Auchus R.J., Garg A. Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia. Human Molecular Genetics 2003, 12:1995-2001.
4. Agarwal A.K., Simha V., Oral E.A., Moran S.A., Gorden P., O'Rahilly S., et al. Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy. Journal of Clinical Endocrinology and Metabolism 2003, 88:4840-4847.
5. Agarwal A.K., Sukumaran S., Cortes V.A., Tunison K., Mizrachi D., Sankella S., et al. Human 1-acylglycerol-3-phosphate O-acyltransferase isoforms 1 and 2: Biochemical characterization and inability to rescue hepatic steatosis in Agpat2(-/-) gene lipodystrophic mice. Journal of Biological Chemistry 2011, 286:37676-37691.
6. Agarwal A.K., Xing C., DeMartino G.N., Mizrachi D., Hernandez M.D., Sousa A.B., et al. PSMB8 encoding the beta5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome. American Journal of Human Genetics 2010, 87:866-872.
7. Barak Y., Nelson M.C., Ong E.S., Jones Y.Z., Ruiz-Lozano P., Chien K.R., et al. PPAR gamma is required for placental, cardiac, and adipose tissue development. Molecular Cell 1999, 4:585-595.
8. Barrowman J., Wiley P.A., Hudon-Miller S.E., Hrycyna C.A., Michaelis S. Human ZMPSTE24 disease mutations: Residual proteolytic activity correlates with disease severity. Human Molecular Genetics 2012, 21:4084-4093.
9. Bengoechea-Alonso M.T., Ericsson J. SREBP in signal transduction: Cholesterol metabolism and beyond. Current Opinion in Cell Biology 2007, 19:215-222.
10. Bergo M.O., Gavino B., Ross J., Schmidt W.K., Hong C., Kendall L.V., et al. Zmpste24 deficiency in mice causes spontaneous bone fractures, muscle weakness, and a prelamin A processing defect. Proceedings of the National Academy of Sciences of the United States of America 2002, 99:13049-13054.
11. Beyer A.M., Baumbach G.L., Halabi C.M., Modrick M.L., Lynch C.M., Gerhold T.D., et al. Interference with PPARgamma signaling causes cerebral vascular dysfunction, hypertrophy, and remodeling. Hypertension 2008, 51:867-871.
12. Binns D., Lee S., Hilton C.L., Jiang Q.X., Goodman J.M. Seipin is a discrete homooligomer. Biochemistry 2010, 49:10747-10755.
13. Bluher M. Adipose tissue dysfunction contributes to obesity related metabolic diseases. Best Practice & Research Clinical Endocrinology & Metabolism 2013, 27:163-177.
14. Boguslavsky R.L., Stewart C.L., Worman H.J. Nuclear lamin A inhibits adipocyte differentiation: Implications for Dunnigan-type familial partial lipodystrophy. Human Molecular Genetics 2006, 15:653-663.
15. Boutet E., El Mourabit H., Prot M., Nemani M., Khallouf E., Colard O., et al. Seipin deficiency alters fatty acid Delta9 desaturation and lipid droplet formation in Berardinelli-Seip congenital lipodystrophy. Biochimie 2009, 91:796-803.
16. Bouzakri K., Zachrisson A., Al-Khalili L., Zhang B.B., Koistinen H.A., Krook A., et al. siRNA-based gene silencing reveals specialized roles of IRS-1/Akt2 and IRS-2/Akt1 in glucose and lipid metabolism in human skeletal muscle. Cell Metabolism 2006, 4:89-96.
17. Briand N., Le Lay S., Sessa W.C., Ferre P., Dugail I. Distinct roles of endothelial and adipocyte caveolin-1 in macrophage infiltration and adipose tissue metabolic activity. Diabetes 2011, 60:448-453.
18. Cao H., Hegele R.A. Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy. Human Molecular Genetics 2000, 9:109-112.
19. Capanni C., Cenni V., Mattioli E., Sabatelli P., Ognibene A., Columbaro M., et al. Failure of lamin A/C to functionally assemble in R482L mutated familial partial lipodystrophy fibroblasts: Altered intermolecular interaction with emerin and implications for gene transcription. Experimental Cell Research 2003, 291:122-134.
20. Capanni C., Mattioli E., Columbaro M., Lucarelli E., Parnaik V.K., Novelli G., et al. Altered pre-lamin A processing is a common mechanism leading to lipodystrophy. Human Molecular Genetics 2005, 14:1489-1502.
21. Capeau J., Magre J., Caron-Debarle M., Lagathu C., Antoine B., Bereziat V., et al. Human lipodystrophies: Genetic and acquired diseases of adipose tissue. Endocrine Development 2010, 19:1-20.
22. Cartwright B.R., Goodman J.M. Seipin: From human disease to molecular mechanism. Journal of Lipid Research 2012, 53:1042-1055.
23. Chadda R., Mayor S. PTRF triggers a cave in. Cell 2008, 132:23-24.
24. Chen W., Chang B., Saha P., Hartig S.M., Li L., Reddy V.T., et al. Berardinelli-Seip congenital lipodystrophy 2/seipin is a cell-autonomous regulator of lipolysis essential for adipocyte differentiation. Molecular and Cellular Biology 2012, 32:1099-1111.
25. Chen W., Yechoor V.K., Chang B.H., Li M.V., March K.L., Chan L. The human lipodystrophy gene product Berardinelli-Seip congenital lipodystrophy 2/seipin plays a key role in adipocyte differentiation. Endocrinology 2009, 150:4552-4561.
26. Chen W., Zhou H., Liu S., Fhaner C.J., Gross B.C., Lydic T.A., et al. Altered lipid metabolism in residual white adipose tissues of bscl2 deficient mice. PLoS One 2013, 8:e82526.
27. Cho H., Mu J., Kim J.K., Thorvaldsen J.L., Chu Q., Crenshaw E.B., et al. Insulin resistance and a diabetes mellitus-like syndrome in mice lacking the protein kinase Akt2 (PKB beta). Science (New York) 2001, 292:1728-1731.
28. Chong A.Y., Lupsa B.C., Cochran E.K., Gorden P. Efficacy of leptin therapy in the different forms of human lipodystrophy. Diabetologia 2010, 53:27-35.
29. Chuengsamarn S., Garza A.E., Krug A.W., Romero J.R., Adler G.K., Williams G.H., et al. Direct renin inhibition modulates insulin resistance in caveolin-1-deficient mice. Metabolism, Clinical and Experimental 2013, 62:275-281.
30. Classon M., Kennedy B.K., Mulloy R., Harlow E. Opposing roles of pRB and p107 in adipocyte differentiation. Proceedings of the National Academy of Sciences of the United States of America 2000, 97:10826-10831.
31. Cohen A.W., Razani B., Schubert W., Williams T.M., Wang X.B., Iyengar P., et al. Role of caveolin-1 in the modulation of lipolysis and lipid droplet formation. Diabetes 2004, 53:1261-1270.
32. Cortes V.A., Cautivo K.M., Rong S., Garg A., Horton J.D., Agarwal A.K. Leptin ameliorates insulin resistance and hepatic steatosis in Agpat2-/- lipodystrophic mice independent of hepatocyte leptin receptors. Journal of Lipid Research 2014, 55:276-288.
33. Cortes V.A., Curtis D.E., Sukumaran S., Shao X., Parameswara V., Rashid S., et al. Molecular mechanisms of hepatic steatosis and insulin resistance in the AGPAT2-deficient mouse model of congenital generalized lipodystrophy. Cell Metabolism 2009, 9:165-176.
34. Cottrell E.C., Mercer J.G. Leptin receptors. Handbook of experimental pharmacology 2012, 3-21. H.-G. Joost (Ed.).
35. Cui X., Wang Y., Tang Y., Liu Y., Zhao L., Deng J., et al. Seipin ablation in mice results in severe generalized lipodystrophy. Human Molecular Genetics 2011, 20:3022-3030.
36. Dalamaga M., Chou S.H., Shields K., Papageorgiou P., Polyzos S.A., Mantzoros C.S. Leptin at the intersection of neuroendocrinology and metabolism: Current evidence and therapeutic perspectives. Cell Metabolism 2013, 18:29-42.
37. Danesch U., Hoeck W., Ringold G.M. Cloning and transcriptional regulation of a novel adipocyte-specific gene, FSP27. CAAT-enhancer-binding protein (C/EBP) and C/EBP-like proteins interact with sequences required for differentiation-dependent expression. Journal of Biological Chemistry 1992, 267:7185-7193.
38. Davis K.E., Moldes M., Farmer S.R. The forkhead transcription factor FoxC2 inhibits white adipocyte differentiation. Journal of Biological Chemistry 2004, 279:42453-42461.
39. Dechat T., Pfleghaar K., Sengupta K., Shimi T., Shumaker D.K., Solimando L., et al. Nuclear lamins: Major factors in the structural organization and function of the nucleus and chromatin. Genes & Development 2008, 22:832-853.
40. Dollet L., Magre J., Cariou B., Prieur X. Function of seipin: New insights from Bscl2/seipin knockout mouse models. Biochimie 2014, 96:166-172.
41. Dubern B., Clement K. Leptin and leptin receptor-related monogenic obesity. Biochimie 2012, 94:2111-2115.
42. Fehling H.J., Swat W., Laplace C., Kuhn R., Rajewsky K., Muller U., et al. MHC class I expression in mice lacking the proteasome subunit LMP-7. Science (New York, N.Y.) 1994, 265:1234-1237.
43. Fei W., Du X., Yang H. Seipin, adipogenesis and lipid droplets. Trends in Endocrinology and Metabolism 2011, 22:204-210.
44. Fei W., Shui G., Gaeta B., Du X., Kuerschner L., Li P., et al. Fld1p, a functional homologue of human seipin, regulates the size of lipid droplets in yeast. Journal of Cell Biology 2008, 180:473-482.
45. Fei W., Shui G., Zhang Y., Krahmer N., Ferguson C., Kapterian T.S., et al. A role for phosphatidic acid in the formation of "supersized" lipid droplets. PLoS Genetics 2011, 7:e1002201.
46. Ferguson R.D., Gallagher E.J., Scheinman E.J., Damouni R., LeRoith D. The epidemiology and molecular mechanisms linking obesity, diabetes, and cancer. Vitamins and Hormones 2013, 93:51-98.
47. Fischer-Posovszky P., Tews D., Horenburg S., Debatin K.M., Wabitsch M. Differential function of Akt1 and Akt2 in human adipocytes. Molecular and Cellular Endocrinology 2012, 358:135-143.
48. Gale S.E., Frolov A., Han X., Bickel P.E., Cao L., Bowcock A., et al. A regulatory role for 1-acylglycerol-3-phosphate-O-acyltransferase 2 in adipocyte differentiation. Journal of Biological Chemistry 2006, 281:11082-11089.
49. Galescu O., Bhangoo A., Ten S. Insulin resistance, lipodystrophy and cardiometabolic syndrome in HIV/AIDS. Reviews in Endocrine & Metabolic Disorders 2013, 14:133-140.
50. Gandotra S., Le Dour C., Bottomley W., Cervera P., Giral P., Reznik Y., et al. Perilipin deficiency and autosomal dominant partial lipodystrophy. New England Journal of Medicine 2011, 364:740-748.
51. Gandotra S., Lim K., Girousse A., Saudek V., O'Rahilly S., Savage D.B. Human frame shift mutations affecting the carboxyl terminus of perilipin increase lipolysis by failing to sequester the adipose triglyceride lipase (ATGL) coactivator AB-hydrolase-containing 5 (ABHD5). Journal of Biological Chemistry 2011, 286:34998-35006.
52. Garfield A.S., Chan W.S., Dennis R.J., Ito D., Heisler L.K., Rochford J.J. Neuroanatomical characterisation of the expression of the lipodystrophy and motor-neuropathy gene Bscl2 in adult mouse brain. PLoS One 2012, 7:e45790.
53. Garg A. Clinical review#: Lipodystrophies: Genetic and acquired body fat disorders. Journal of Clinical Endocrinology and Metabolism 2011, 96:3313-3325.
54. Garg A., Wilson R., Barnes R., Arioglu E., Zaidi Z., Gurakan F., et al. A gene for congenital generalized lipodystrophy maps to human chromosome 9q34. Journal of Clinical Endocrinology and Metabolism 1999, 84:3390-3394.
55. Garofalo R.S., Orena S.J., Rafidi K., Torchia A.J., Stock J.L., Hildebrandt A.L., et al. Severe diabetes, age-dependent loss of adipose tissue, and mild growth deficiency in mice lacking Akt2/PKB beta. Journal of Clinical Investigation 2003, 112:197-208.
56. Gautron L., Elmquist J.K. Sixteen years and counting: An update on leptin in energy balance. Journal of Clinical Investigation 2011, 121:2087-2093.
57. George S., Rochford J.J., Wolfrum C., Gray S.L., Schinner S., Wilson J.C., et al. A family with severe insulin resistance and diabetes due to a mutation in AKT2. Science (New York) 2004, 304:1325-1328.
58. Gerin I., Bommer G.T., Lidell M.E., Cederberg A., Enerback S., Macdougald O.A. On the role of FOX transcription factors in adipocyte differentiation and insulin-stimulated glucose uptake. Journal of Biological Chemistry 2009, 284:10755-10763.
59. Giorgino F., Laviola L., Eriksson J.W. Regional differences of insulin action in adipose tissue: Insights from in vivo and in vitro studies. Acta Physiologica Scandinavica 2005, 183:13-30.
60. Girousse A., Langin D. Adipocyte lipases and lipid droplet-associated proteins: Insight from transgenic mouse models. International Journal of Obesity 2012, 36:581-594.
61. Grahn T.H., Zhang Y., Lee M.J., Sommer A.G., Mostoslavsky G., Fried S.K., et al. FSP27 and PLIN1 interaction promotes the formation of large lipid droplets in human adipocytes. Biochemical and Biophysical Research Communications 2013, 432:296-301.
62. Gray S.L., Dalla Nora E., Backlund E.C., Manieri M., Virtue S., Noland R.C., et al. Decreased brown adipocyte recruitment and thermogenic capacity in mice with impaired peroxisome proliferator-activated receptor (P465L PPARgamma) function. Endocrinology 2006, 147:5708-5714.
63. Gray S.L., Nora E.D., Grosse J., Manieri M., Stoeger T., Medina-Gomez G., et al. Leptin deficiency unmasks the deleterious effects of impaired peroxisome proliferator-activated receptor gamma function (P465L PPARgamma) in mice. Diabetes 2006, 55:2669-2677.
64. Groeneveld M.P., Huang-Doran I., Semple R.K. Adiponectin and leptin in human severe insulin resistance-Diagnostic utility and biological insights. Biochimie 2012, 94:2172-2179.
65. Guan H.P., Li Y., Jensen M.V., Newgard C.B., Steppan C.M., Lazar M.A. A futile metabolic cycle activated in adipocytes by antidiabetic agents. Nature Medicine 2002, 8:1122-1128.
66. Haque W., Garg A., Agarwal A.K. Enzymatic activity of naturally occurring 1-acylglycerol-3-phosphate-O-acyltransferase 2 mutants associated with congenital generalized lipodystrophy. Biochemical and Biophysical Research Communications 2005, 327:446-453.
67. Hayashi Y.K., 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. Journal of Clinical Investigation 2009, 119:2623-2633.
68. Hegele R.A., Anderson C.M., Wang J., Jones D.C., Cao H. Association between nuclear lamin A/C R482Q mutation and partial lipodystrophy with hyperinsulinemia, dyslipidemia, hypertension, and diabetes. Genome Research 2000, 10:652-658.
69. Hegele R.A., Cao H., Anderson C.M., Hramiak I.M. Heterogeneity of nuclear lamin A mutations in Dunnigan-type familial partial lipodystrophy. Journal of Clinical Endocrinology and Metabolism 2000, 85:3431-3435.
70. Hegele R.A., Cao H., Frankowski C., Mathews S.T., Leff T. PPARG F388L, a transactivation-deficient mutant, in familial partial lipodystrophy. Diabetes 2002, 51:3586-3590.
71. Hill M.M., Bastiani M., Luetterforst R., Kirkham M., Kirkham A., Nixon S.J., et al. PTRF-Cavin, a conserved cytoplasmic protein required for caveola formation and function. Cell 2008, 132:113-124.
72. Inohara N., Koseki T., Chen S., Wu X., Nunez G. CIDE, a novel family of cell death activators with homology to the 45 kDa subunit of the DNA fragmentation factor. EMBO Journal 1998, 17:2526-2533.
73. Jansa P., Mason S.W., Hoffmann-Rohrer U., Grummt I. Cloning and functional characterization of PTRF, a novel protein which induces dissociation of paused ternary transcription complexes. EMBO Journal 1998, 17:2855-2864.
74. Jeninga E.H., Gurnell M., Kalkhoven E. Functional implications of genetic variation in human PPARgamma. Trends in Endocrinology and metabolism 2009, 20:380-387.
75. Jiang Z.Y., Zhou Q.L., Holik J., Patel S., Leszyk J., Coleman K., et al. Identification of WNK1 as a substrate of Akt/protein kinase B and a negative regulator of insulin-stimulated mitogenesis in 3T3-L1 cells. Journal of Biological Chemistry 2005, 280:21622-21628.
76. Karlsson M., Thorn H., Parpal S., Stralfors P., Gustavsson J. Insulin induces translocation of glucose transporter GLUT4 to plasma membrane caveolae in adipocytes. FASEB Journal 2002, 16:249-251.
77. Keller P., Petrie J.T., De Rose P., Gerin I., Wright W.S., Chiang S.H., et al. Fat-specific protein 27 regulates storage of triacylglycerol. Journal of Biological Chemistry 2008, 283:14355-14365.
78. Kim C.A., Delepine M., Boutet E., El Mourabit H., Le Lay S., Meier M., et al. Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy. Journal of Clinical Endocrinology and Metabolism 2008, 93:1129-1134.
79. Kim J.B., Spiegelman B.M. ADD1/SREBP1 promotes adipocyte differentiation and gene expression linked to fatty acid metabolism. Genes & Development 1996, 10:1096-1107.
80. Kim J.B., Wright H.M., Wright M., Spiegelman B.M. ADD1/SREBP1 activates PPARgamma through the production of endogenous ligand. Proceedings of the National Academy of Sciences of the United States of America 1998, 95:4333-4337.
81. Kis A., Murdoch C., Zhang M., Siva A., Rodriguez-Cuenca S., Carobbio S., et al. Defective peroxisomal proliferators activated receptor gamma activity due to dominant-negative mutation synergizes with hypertension to accelerate cardiac fibrosis in mice. European Journal of Heart Failure 2009, 11:533-541.
82. Kitamura A., Maekawa Y., Uehara H., Izumi K., Kawachi I., Nishizawa M., et al. A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans. Journal of Clinical Investigation 2011, 121:4150-4160.
83. Konner A.C., Bruning J.C. Selective insulin and leptin resistance in metabolic disorders. Cell Metabolism 2012, 16:144-152.
84. Krycer J.R., Sharpe L.J., Luu W., Brown A.J. The Akt-SREBP nexus: Cell signaling meets lipid metabolism. Trends in Endocrinology and Metabolism 2010, 21:268-276.
85. Le Lay S., Blouin C.M., Hajduch E., Dugail I. Filling up adipocytes with lipids. Lessons from caveolin-1 deficiency. Biochimica et Biophysica Acta 2009, 1791:514-518.
86. Le Lay S., Hajduch E., Lindsay M.R., Le Liepvre X., Thiele C., Ferre P., et al. Cholesterol-induced caveolin targeting to lipid droplets in adipocytes: A role for caveolar endocytosis. Traffic (Copenhagen, Denmark) 2006, 7:549-561.
87. Le Lay S., Li Q., Proschogo N., Rodriguez M., Gunaratnam K., Cartland S., et al. Caveolin-1-dependent and -independent membrane domains. Journal of Lipid Research 2009, 50:1609-1620.
88. Lefterova M.I., Zhang Y., Steger D.J., Schupp M., Schug J., Cristancho A., et al. PPARgamma and C/EBP factors orchestrate adipocyte biology via adjacent binding on a genome-wide scale. Genes & Development 2008, 22:2941-2952.
89. Levine A.J., Feng Z., Mak T.W., You H., Jin S. Coordination and communication between the p53 and IGF-1-AKT-TOR signal transduction pathways. Genes & Development 2006, 20:267-275.
90. Li J.Z., Ye J., Xue B., Qi J., Zhang J., Zhou Z., et al. Cideb regulates diet-induced obesity, liver steatosis, and insulin sensitivity by controlling lipogenesis and fatty acid oxidation. Diabetes 2007, 56:2523-2532.
91. Liu L., Brown D., McKee M., Lebrasseur N.K., Yang D., Albrecht K.H., et al. Deletion of Cavin/PTRF causes global loss of caveolae, dyslipidemia, and glucose intolerance. Cell Metabolism 2008, 8:310-317.
92. Lloyd D.J., Trembath R.C., Shackleton S. A novel interaction between lamin A and SREBP1: Implications for partial lipodystrophy and other laminopathies. Human Molecular Genetics 2002, 11:769-777.
93. Lundin C., Nordstrom R., Wagner K., Windpassinger C., Andersson H., von Heijne G., et al. Membrane topology of the human seipin protein. FEBS Letters 2006, 580:2281-2284.
94. Magre J., Delepine M., Khallouf E., Gedde-Dahl T., Van Maldergem L., Sobel E., et al. Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13. Nature Genetics 2001, 28:365-370.
95. Mallewa J.E., Wilkins E., Vilar J., Mallewa M., Doran D., Back D., et al. HIV-associated lipodystrophy: A review of underlying mechanisms and therapeutic options. Journal of Antimicrobial Chemotherapy 2008, 62:648-660.
96. Mantzoros C.S., Magkos F., Brinkoetter M., Sienkiewicz E., Dardeno T.A., Kim S.Y., et al. Leptin in human physiology and pathophysiology. American Journal of Physiology, Endocrinology and Metabolism 2011, 301:E567-E584.
97. Martin S., Fernandez-Rojo M.A., Stanley A.C., Bastiani M., Okano S., Nixon S.J., et al. Caveolin-1 deficiency leads to increased susceptibility to cell death and fibrosis in white adipose tissue: Characterization of a lipodystrophic model. PLoS One 2012, 7:e46242.
98. Martinez-Botas J., Anderson J.B., Tessier D., Lapillonne A., Chang B.H., Quast M.J., et al. Absence of perilipin results in leanness and reverses obesity in Lepr(db/db) mice. Nature Genetics 2000, 26:474-479.
99. Medina-Gomez G., Gray S., Vidal-Puig A. Adipogenesis and lipotoxicity: Role of peroxisome proliferator-activated receptor gamma (PPARgamma) and PPARgammacoactivator-1 (PGC1). Public Health Nutrition 2007, 10:1132-1137.
100. Murata T., Lin M.I., Huang Y., Yu J., Bauer P.M., Giordano F.J., et al. Reexpression of caveolin-1 in endothelium rescues the vascular, cardiac, and pulmonary defects in global caveolin-1 knockout mice. Journal of Experimental Medicine 2007, 204:2373-2382.
101. Nakae J., Kitamura T., Kitamura Y., Biggs W.H., Arden K.C., Accili D. The forkhead transcription factor Foxo1 regulates adipocyte differentiation. Developmental Cell 2003, 4:119-129.
102. Nian Z., Sun Z., Yu L., Toh S.Y., Sang J., Li P. Fat-specific protein 27 undergoes ubiquitin-dependent degradation regulated by triacylglycerol synthesis and lipid droplet formation. Journal of Biological Chemistry 2010, 285:9604-9615.
103. Nielsen R., Pedersen T.A., Hagenbeek D., Moulos P., Siersbaek R., Megens E., et al. Genome-wide profiling of PPARgamma:RXR and RNA polymerase II occupancy reveals temporal activation of distinct metabolic pathways and changes in RXR dimer composition during adipogenesis. Genes & Development 2008, 22:2953-2967.
104. Nishino N., Tamori Y., Tateya S., Kawaguchi T., Shibakusa T., Mizunoya W., et al. FSP27 contributes to efficient energy storage in murine white adipocytes by promoting the formation of unilocular lipid droplets. Journal of Clinical Investigation 2008, 118:2808-2821.
105. Oral E.A., Simha V., Ruiz E., Andewelt A., Premkumar A., Snell P., et al. Leptin-replacement therapy for lipodystrophy. New England Journal of Medicine 2002, 346:570-578.
106. Ortegren U., Aboulaich N., Ost A., Stralfors P. A new role for caveolae as metabolic platforms. Trends in Endocrinology and Metabolism 2007, 18:344-349.
107. Parton R.G., del Pozo M.A. Caveolae as plasma membrane sensors, protectors and organizers. Nature Reviews 2013, 14:98-112.
108. Payne V.A., Grimsey N., Tuthill A., Virtue S., Gray S.L., Dalla Nora E., et al. The human lipodystrophy gene BSCL2/seipin may be essential for normal adipocyte differentiation. Diabetes 2008, 57:2055-2060.
109. Pearce L.R., Komander D., Alessi D.R. The nuts and bolts of AGC protein kinases. Nature Reviews 2010, 11:9-22.
110. Pendas A.M., Zhou Z., Cadinanos J., Freije J.M., Wang J., Hultenby K., et al. Defective prelamin A processing and muscular and adipocyte alterations in Zmpste24 metalloproteinase-deficient mice. Nature Genetics 2002, 31:94-99.
111. Pendse A.A., Johnson L.A., Kim H.S., McNair M., Nipp C.T., Wilhelm C., et al. Pro- and antiatherogenic effects of a dominant-negative P465L mutation of peroxisome proliferator-activated receptor-gamma in apolipoprotein E-Null mice. Arteriosclerosis, Thrombosis, and Vascular Biology 2012, 32:1436-1444.
112. Pendse A.A., Johnson L.A., Tsai Y.S., Maeda N. Pparg-P465L mutation worsens hyperglycemia in Ins2-Akita female mice via adipose-specific insulin resistance and storage dysfunction. Diabetes 2010, 59:2890-2897.
113. Peng X.D., Xu P.Z., Chen M.L., Hahn-Windgassen A., Skeen J., Jacobs J., et al. Dwarfism, impaired skin development, skeletal muscle atrophy, delayed bone development, and impeded adipogenesis in mice lacking Akt1 and Akt2. Genes & Development 2003, 17:1352-1365.
114. Pilch P.F., Liu L. Fat caves: Caveolae, lipid trafficking and lipid metabolism in adipocytes. Trends in Endocrinology and Metabolism 2011, 22:318-324.
115. Prieur X., Dollet L., Takahashi M., Nemani M., Pillot B., Le May C., et al. Thiazolidinediones partially reverse the metabolic disturbances observed in Bscl2/seipin-deficient mice. Diabetologia 2013, 56:1813-1825.
116. Puri V., Konda S., Ranjit S., Aouadi M., Chawla A., Chouinard M., et al. Fat-specific protein 27, a novel lipid droplet protein that enhances triglyceride storage. Journal of Biological Chemistry 2007, 282:34213-34218.
117. Ramanathan N., Ahmed M., Raffan E., Stewart C.L., O'Rahilly S., Semple R.K., et al. Identification and characterisation of a novel pathogenic mutation in the human lipodystrophy gene AGPAT2: C48R: A novel mutation in AGPAT2. JIMD Reports 2013, 9:73-80.
118. Razani B., Combs T.P., Wang X.B., Frank P.G., Park D.S., Russell R.G., et al. Caveolin-1-deficient mice are lean, resistant to diet-induced obesity, and show hypertriglyceridemia with adipocyte abnormalities. Journal of Biological Chemistry 2002, 277:8635-8647.
119. Rochford J.J. Molecular mechanisms controlling human adipose tissue development: Insights from monogenic lipodystrophies. Expert Reviews in Molecular Medicine 2010, 12:e24.
120. Rodriguez-Cuenca S., Carobbio S., Velagapudi V.R., Barbarroja N., Moreno-Navarrete J.M., Tinahones F.J., et al. Peroxisome proliferator-activated receptor gamma-dependent regulation of lipolytic nodes and metabolic flexibility. Molecular and Cellular Biology 2012, 32:1555-1565.
121. Rosen E.D., MacDougald O.A. Adipocyte differentiation from the inside out. Nature Reviews 2006, 7:885-896.
122. Rosen E.D., Sarraf P., Troy A.E., Bradwin G., Moore K., Milstone D.S., et al. PPAR gamma is required for the differentiation of adipose tissue in vivo and in vitro. Molecular Cell 1999, 4:611-617.
123. Rosen E.D., Spiegelman B.M. What we talk about when we talk about fat. Cell 2014, 156:20-44.
124. Rubio-Cabezas O., Puri V., Murano I., Saudek V., Semple R.K., Dash S., et al. Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation in CIDEC. EMBO Molecular Medicine 2009, 1:280-287.
125. Safar Zadeh E., Lungu A.O., Cochran E.K., Brown R.J., Ghany M.G., Heller T., et al. The liver diseases of lipodystrophy: The long-term effect of leptin treatment. Journal of Hepatology 2013, 59:131-137.
126. Saha P.K., Kojima H., Martinez-Botas J., Sunehag A.L., Chan L. Metabolic adaptations in the absence of perilipin: Increased beta-oxidation and decreased hepatic glucose production associated with peripheral insulin resistance but normal glucose tolerance in perilipin-null mice. Journal of Biological Chemistry 2004, 279:35150-35158.
127. Savage D.B., Tan G.D., Acerini C.L., Jebb S.A., Agostini M., Gurnell M., et al. Human metabolic syndrome resulting from dominant-negative mutations in the nuclear receptor peroxisome proliferator-activated receptor-gamma. Diabetes 2003, 52:910-917.
128. Semple R.K., Chatterjee V.K., O'Rahilly S. PPAR gamma and human metabolic disease. Journal of Clinical Investigation 2006, 116:581-589.
129. Shackleton S., Lloyd D.J., Jackson S.N., Evans R., Niermeijer M.F., Singh B.M., et al. LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. Nature Genetics 2000, 24:153-156.
130. Shastry S., Delgado M.R., Dirik E., Turkmen M., Agarwal A.K., Garg A. Congenital generalized lipodystrophy, type 4 (CGL4) associated with myopathy due to novel PTRF mutations. American Journal of Medical Genetics Part A 2010, 152A:2245-2253.
131. Sim M.F.M., Dennis R.J., Aubry E.M., Ramanathan N., Sembongi H., Saudek V., et al. The human lipodystrophy protein seipin is an ER membrane adaptor for the adipogenic PA phosphatase lipin 1. Molecular Metabolism 2013, 2:38-46.
132. Sim M.F.M., Talukder M.M.U., Dennis R.J., O'Rahilly S., Edwardson J.M., Rochford J.J. Analysis of naturally occurring mutations in the human lipodystrophy protein seipin reveals multiple potential pathogenic mechanisms. Diabetologia 2013, 56(11):2498-2506.
133. Skinner J.R., Harris L.A., Shew T.M., Abumrad N.A., Wolins N.E. Perilipin 1 moves between the fat droplet and the endoplasmic reticulum. Adipocyte 2013, 2:80-86.
134. Subauste A.R., Das A.K., Li X., Elliott B.G., Evans C., El Azzouny M., et al. Alterations in lipid signaling underlie lipodystrophy secondary to AGPAT2 mutations. Diabetes 2012, 61:2922-2931.
135. Sullivan T., Escalante-Alcalde D., Bhatt H., Anver M., Bhat N., Nagashima K., et al. Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy. Journal of Cell Biology 1999, 147:913-920.
136. Sun K., Kusminski C.M., Scherer P.E. Adipose tissue remodeling and obesity. Journal of Clinical Investigation 2011, 121:2094-2101.
137. Szymanski K.M., Binns D., Bartz R., Grishin N.V., Li W.P., Agarwal A.K., et al. The lipodystrophy protein seipin is found at endoplasmic reticulum lipid droplet junctions and is important for droplet morphology. Proceedings of the National Academy of Sciences of the United States of America 2007, 104:20890-20895.
138. Tansey J.T., Sztalryd C., Gruia-Gray J., Roush D.L., Zee J.V., Gavrilova O., et al. Perilipin ablation results in a lean mouse with aberrant adipocyte lipolysis, enhanced leptin production, and resistance to diet-induced obesity. Proceedings of the National Academy of Sciences of the United States of America 2001, 98:6494-6499.
139. Tian Y., Bi J., Shui G., Liu Z., Xiang Y., Liu Y., et al. Tissue-autonomous function of Drosophila seipin in preventing ectopic lipid droplet formation. PLoS Genetics 2011, 7:e1001364.
140. Toh S.Y., Gong J., Du G., Li J.Z., Yang S., Ye J., et al. Up-regulation of mitochondrial activity and acquirement of brown adipose tissue-like property in the white adipose tissue of fsp27 deficient mice. PLoS One 2008, 3:e2890.
141. Tontonoz P., Spiegelman B.M. Fat and beyond: The diverse biology of PPARgamma. Annual Review of Biochemistry 2008, 77:289-312.
142. Tsai Y.S., Kim H.J., Takahashi N., Kim H.S., Hagaman J.R., Kim J.K., et al. Hypertension and abnormal fat distribution but not insulin resistance in mice with P465L PPARgamma. Journal of Clinical Investigation 2004, 114:240-249.
143. Tsukahara T., Tsukahara R., Fujiwara Y., Yue J., Cheng Y., Guo H., et al. Phospholipase D2-dependent inhibition of the nuclear hormone receptor PPARgamma by cyclic phosphatidic acid. Molecular Cell 2010, 39:421-432.
144. Unger R.H., Clark G.O., Scherer P.E., Orci L. Lipid homeostasis, lipotoxicity and the metabolic syndrome. Biochimica et Biophysica Acta 2010, 1801:209-214.
145. Unger R.H., Scherer P.E. Gluttony, sloth and the metabolic syndrome: A roadmap to lipotoxicity. Trends in Endocrinology and Metabolism 2010, 21(6):345-352.
146. Van Maldergem L., Magre J., Khallouf T.E., Gedde-Dahl T., Delepine M., Trygstad O., et al. Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy. Journal of Medical Genetics 2002, 39:722-733.
147. Vantyghem M.C., Balavoine A.S., Douillard C., Defrance F., Dieudonne L., Mouton F., et al. How to diagnose a lipodystrophy syndrome. Annales d'endocrinologie 2012, 73:170-189.
148. Vatier C., Bidault G., Briand N., Guenantin A.C., Teyssieres L., Lascols O., et al. What the genetics of lipodystrophy can teach us about insulin resistance and diabetes. Current Diabetes Reports 2013, 13:757-767.
149. Victoria B., Cabezas-Agricola J.M., Gonzalez-Mendez B., Lattanzi G., Del Coco R., Loidi L., et al. Reduced adipogenic gene expression in fibroblasts from a patient with type 2 congenital generalized lipodystrophy. Diabetic Medicine 2010, 27:1178-1187.
150. Vigouroux C., Caron-Debarle M., Le Dour C., Magre J., Capeau J. Molecular mechanisms of human lipodystrophies: From adipocyte lipid droplet to oxidative stress and lipotoxicity. International Journal of Biochemistry & Cell Biology 2011, 43(6):862-876.
151. Virtue S., Vidal-Puig A. Adipose tissue expandability, lipotoxicity and the metabolic syndrome-An allostatic perspective. Biochimica et Biophysica Acta 2010, 1801:338-349.
152. Vogel P., Read R., Hansen G., Wingert J., Dacosta C.M., Buhring L.M., et al. Pathology of congenital generalized lipodystrophy in Agpat2-/- mice. Veterinary Pathology 2011, 48:642-654.
153. Weedon M.N., Ellard S., Prindle M.J., 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. Nature Genetics 2013, 45:947-950.
154. Windpassinger C., Auer-Grumbach M., Irobi J., Patel H., Petek E., Horl G., et al. Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. Nature Genetics 2004, 36:271-276.
155. Wojtanik K.M., Edgemon K., Viswanadha S., Lindsey B., Haluzik M., Chen W., et al. The role of LMNA in adipose: A novel mouse model of lipodystrophy based on the Dunnigan-type familial partial lipodystrophy mutation. Journal of Lipid Research 2009, 50:1068-1079.
156. Wolfrum C., Shih D.Q., Kuwajima S., Norris A.W., Kahn C.R., Stoffel M. Role of Foxa-2 in adipocyte metabolism and differentiation. Journal of Clinical Investigation 2003, 112:345-356.
157. Wolinski H., Kolb D., Hermann S., Koning R.I., Kohlwein S.D. A role for seipin in lipid droplet dynamics and inheritance in yeast. Journal of Cell Science 2011, 124:3894-3904.
158. Worman H.J., Bonne G. "Laminopathies": A wide spectrum of human diseases. Experimental Cell Research 2007, 313:2121-2133.
159. Yamauchi T., Kamon J., Minokoshi Y., Ito Y., Waki H., Uchida S., et al. Adiponectin stimulates glucose utilization and fatty-acid oxidation by activating AMP-activated protein kinase. Nature Medicine 2002, 8:1288-1295.
160. Yamauchi T., Kamon J., Waki H., Terauchi Y., Kubota N., Hara K., et al. The fat-derived hormone adiponectin reverses insulin resistance associated with both lipoatrophy and obesity. Nature Medicine 2001, 7:941-946.
161. Yang J., Cron P., Good V.M., Thompson V., Hemmings B.A., Barford D. Crystal structure of an activated Akt/protein kinase B ternary complex with GSK3-peptide and AMP-PNP. Nature Structural Biology 2002, 9:940-944.
162. Yang W., Thein S., Guo X., Xu F., Venkatesh B., Sugii S., et al. Seipin differentially regulates lipogenesis and adipogenesis through a conserved core sequence and an evolutionarily acquired C-terminus. Biochemical Journal 2013, 452(1):37-44.
163. Yang W., Thein S., Wang X., Bi X., Ericksen R.E., Xu F., et al. BSCL2/seipin regulates adipogenesis through actin cytoskeleton remodelling. Human Molecular Genetics 2014, 23:502-513.
164. Yeo G.S., Heisler L.K. Unraveling the brain regulation of appetite: Lessons from genetics. Nature Neuroscience 2012, 15:1343-1349.
165. Yun S.J., Kim E.K., Tucker D.F., Kim C.D., Birnbaum M.J., Bae S.S. Isoform-specific regulation of adipocyte differentiation by Akt/protein kinase Balpha. Biochemical and Biophysical Research Communications 2008, 371:138-143.
166. Zechner R., Zimmermann R., Eichmann T.O., Kohlwein S.D., Haemmerle G., Lass A., et al. Fat signals-lipases and lipolysis in lipid metabolism and signaling. Cell Metabolism 2012, 15:279-291.
167. Zhou Z., Yon Toh S., Chen Z., Guo K., Ng C.P., Ponniah S., et al. Cidea-deficient mice have lean phenotype and are resistant to obesity. Nature Genetics 2003, 35:49-56.