Lipodystrophies: disorders of adipose tissue biology.
Open accessAbstract
The adipocytes synthesize and store triglycerides as lipid droplets surrounded by various proteins and phospholipids at its surface. Recently, the molecular basis of some of the genetic syndromes of lipodystrophies has been elucidated and some of these genetic loci have been found to contribute to lipid droplet formation in adipocytes. The two main types of genetic lipodystrophies are congenital generalized lipodystrophy (CGL) and familial partial lipodystrophy (FPL). So far, three CGL loci: 1-acylglycerol-3-phosphate-O-acyltransferase 2 (AGPAT2), Berardinelli-Seip Congenital Lipodystrophy 2 (BSCL2) and caveolin 1 (CAV1) and four FPL loci: lamin A/C (LMNA), peroxisome proliferator-activated receptor gamma (PPARG), v-AKT murine thymoma oncogene homolog 2 (AKT2) and zinc metalloprotease (ZMPSTE24), have been identified. AGPAT2 plays a critical role in the synthesis of glycerophospholipids and triglycerides required for lipid droplet formation. Another protein, seipin (encoded by BSCL2 gene), has been found to induce lipid droplet fusion. CAV1 is an integral component of caveolae and might contribute towards lipid droplet formation. PPARgamma and AKT2 play important role in adipogenesis and lipid synthesis. In this review, we discuss and speculate about the contribution of various lipodystrophy genes and their products in the lipid droplet formation.
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Inherited and congenital lipodystrophies are associated with moderate-to-severe hypertriglyceridemia and are characterized by loss of adipose tissue and either autosomal recessive or dominant inheritance.
“Inherited and congenital lipodystrophies are associated with moderate-to-severe hypertriglyceridemia and are characterized by loss of adipose tissue and either autosomal recessive or dominant inheritance (95).”
From Evaluation and Treatment of Hypertriglyceridemia: An Endocrine Society Clinical Practice Guideline (2012) · cites this paper as [95]
The Congenital Generalized Lipodystrophy section (page unavailable) describes near-total fat loss, autosomal recessive inheritance, and hypertriglyceridemia that is difficult to manage. The Familial Partial Lipodystrophy section (page unavailable) describes fat loss and both dominant and recessive forms, but reports dyslipidemia rather than specifically moderate-to-severe hypertriglyceridemia. The claimed severity and its application across the inherited forms are not established by these passages. (LLM, conf=0.86)
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Cites
Mechanisms of fatty acid-induced inhibition of glucose uptake.
Boden, G., Chen, X., Ruiz, J., White, J. V., & Rossetti, L. (1994) · Journal of Clinical Investigation · doi:10.1172/jci117252 · Cited by 3,702 · see citing works
PPARγ Is Required for the Differentiation of Adipose Tissue In Vivo and In Vitro
Rosen, E. D., Sarraf, P., Troy, A. E., Bradwin, G., Moore, K. J., Milstone, D. S., Spiegelman, B. M., & Mortensen, R. M. (1999) · Molecular Cell · doi:10.1016/s1097-2765(00)80211-7 · Cited by 2,081 · see citing works
Cardiovascular Risk and Body-Fat Abnormalities in HIV-Infected Adults
Grinspoon, S. K., & Carr, A. D. (2005) · New England Journal of Medicine · doi:10.1056/nejmra041811 · Cited by 1,073 · see citing works
Acquired and Inherited Lipodystrophies
Garg, A. (2004) · New England Journal of Medicine · doi:10.1056/nejmra025261 · Cited by 939 · see citing works
Self-citationPPAR and human metabolic disease
Semple, R. K. (2006) · Journal of Clinical Investigation · doi:10.1172/jci28003 · Cited by 823 · see citing works
Identification of the gene altered in Berardinelli–Seip congenital lipodystrophy on chromosome 11q13
Magré, J., Délepine, M., Khallouf, E., Gedde‐Dahl, T., Maldergem, L. V., Sobel, E. M., Papp, J. C., Meier, M., Mégarbané, A., BSCL Working Group, et al. (2001) · Nature Genetics · doi:10.1038/ng585 · Cited by 755 · see citing works
Phenotype and Course of Hutchinson–Gilford Progeria Syndrome
Merideth, M. A., Gordon, L. B., Clauss, S. B., Sachdev, V., Smith, A. C. M., Perry, M. B., Brewer, C. C., Zalewski, C. K., Kim, H. J., Solomon, B. I., et al. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa0706898 · Cited by 740 · see citing works
Cao, H. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.1.109 · Cited by 668 · see citing works
Szymanski, K. M., Binns, D. D., Bartz, R., Grishin, N. V., Li, W., Agarwal, A. K., Garg, A., Anderson, R. G. W., & Goodman, J. M. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0704154104 · Cited by 628 · see citing works
Self-citationMechanisms of lipid-body formation
Murphy, D. J., & Vance, J. E. (1999) · Trends in Biochemical Sciences · doi:10.1016/s0968-0004(98)01349-8 · Cited by 583 · see citing works
Hutchinson–Gilford progeria syndrome: Review of the phenotype
Hennekam, R. C. M. (2006) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.31346 · Cited by 574 · see citing works
A Family with Severe Insulin Resistance and Diabetes Due to a Mutation in AKT2
George, S., Rochford, J. J., Wolfrum, C., Gray, S. L., Schinner, S., Wilson, J. C., Soos, M. A., Murgatroyd, P. R., Williams, R. M., Acerini, C. L., et al. (2004) · Science · doi:10.1126/science.1096706 · Cited by 555 · see citing works
Mandibuloacral Dysplasia Is Caused by a Mutation in LMNA-Encoding Lamin A/C
Novelli, G., Muchir, A., Sangiuolo, F. C., Helbling-Leclerc, A., D’Apice, M. R., Massart, C., Capon, F., Sbraccia, P., Federici, M., Lauro, R., et al. (2002) · The American Journal of Human Genetics · doi:10.1086/341908 · Cited by 550 · see citing works
AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34
Agarwal, A. K., Oral, E. A., de Almeida, S., Akkoç, N., Taylor, S. I., Bowcock, A. M., Barnes, R. I., & Garg, A. (2002) · Nature Genetics · doi:10.1038/ng880 · Cited by 522 · see citing works
Self-citationFld1p, a functional homologue of human seipin, regulates the size of lipid droplets in yeast
Fei, W., Shui, G., Gaëta, B. A., Du, X., Kuerschner, L., Li, P., Brown, A. J., Wenk, M. R., Parton, R. G., & Yang, H. (2008) · The Journal of Cell Biology · doi:10.1083/jcb.200711136 · Cited by 470 · see citing works
LMNA mutations in atypical Werner's syndrome
Chen, L., Lee, L., Kudlow, B. A., dos Santos, H. G., Sletvold, O., Shafeghati, Y., Botha, E. G., Garg, A., Hanson, N. B., Martin, G. M., et al. (2003) · The Lancet · doi:10.1016/s0140-6736(03)14069-x · Cited by 433 · see citing works
Self-citationZinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia
Agarwal, A. K. (2003) · Human Molecular Genetics · doi:10.1093/hmg/ddg213 · Cited by 402 · see citing works
Self-citationSerum Adiponectin and Leptin Levels in Patients with Lipodystrophies
Haque, W. A., Shimomura, I., Matsuzawa, Y., & Garg, A. (2002) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.87.5.8624 · Cited by 394 · see citing works
Self-citationKim, C., Delepine, M., Boutet, E., Mourabit, H. E., Lay, S. L., Meier, M., Nemani, M., Bridel, E., Leite, C. C., Bertola, D., et al. (2008) · Journal of Clinical Endocrinology and Metabolism · doi:10.1210/jc.2007-1328 · Cited by 390 · see citing works
Windpassinger, C., Auer‐Grumbach, M., Irobi, J., Patel, H., Petek, E., Hörl, G., Malli, R., Reed, J. A., Dierick, I., Verpoorten, N., et al. (2004) · Nature Genetics · doi:10.1038/ng1313 · Cited by 381 · see citing works
Garg, A. (2000) · The American Journal of Medicine · doi:10.1016/s0002-9343(99)00414-3 · Cited by 375 · see citing works
Self-citationRole of Caveolin-1 in the Modulation of Lipolysis and Lipid Droplet Formation
Cohen, A. W., Razani, B., Schubert, W., Williams, T. M., Wang, X., Iyengar, P., Brasaemle, D., Scherer, P. E., & Lisanti, M. P. (2004) · Diabetes · doi:10.2337/diabetes.53.5.1261 · Cited by 320 · see citing works
Cell biology of lipid droplets
Thiele, C., & Spandl, J. (2008) · Current Opinion in Cell Biology · doi:10.1016/j.ceb.2008.05.009 · Cited by 307 · see citing works
Generalized lipodystrophy, congenital and acquired (lipoatrophy)
Seip, M., & Trygstad, O. (1996) · Acta Paediatrica · doi:10.1111/j.1651-2227.1996.tb14262.x · Cited by 293 · see citing works
Clinical Features and Metabolic and Autoimmune Derangements in Acquired Partial Lipodystrophy
Misra, A., Peethambaram, A., & Garg, A. (2004) · Medicine · doi:10.1097/01.md.0000111061.69212.59 · Cited by 287 · see citing works
Self-citationThe processing pathway of prelamin a
Sinensky, M. S., Fantle, K., Trujillo, M., McLain, T., Kupfer, A., & Dalton, M. B. (1994) · Journal of Cell Science · doi:10.1242/jcs.107.1.61 · Cited by 278 · see citing works
Analysis of Amino Acid Motifs Diagnostic for the sn-Glycerol-3-phosphate Acyltransferase Reaction
Lewin, T. M., WANG, P. H., & Coleman, R. (1999) · Biochemistry · doi:10.1021/bi982805d · Cited by 273 · see citing works
Caveolin-1 Is Essential for Liver Regeneration
Fernandez-Rojo, M. A., Albor, C. V., Ingelmo‐Torres, M., Nixon, S. J., Ferguson, C., Kurzchalia, T. V., Tebar, F., Enrich, C., Parton, R. G., & Pol, A. (2006) · Science · doi:10.1126/science.1130773 · Cited by 271 · see citing works
Agarwal, A. K., & Garg, A. (2002) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.87.1.8290 · Cited by 269 · see citing works
Self-citationOstermeyer, A. G., Paci, J. M., Zeng, Y., Lublin, D. M., Munro, S., & Brown, D. A. (2001) · The Journal of Cell Biology · doi:10.1083/jcb.152.5.1071 · Cited by 253 · see citing works
Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy
Maldergem, L. V., Magré, J., Khallouf, T. E., Gedde‐Dahl, T., Délepine, M., Trygstad, O., Seemanová, E., Stephenson, T. J., Albott, C. S., Bonńici, F., et al. (2002) · Journal of Medical Genetics · doi:10.1136/jmg.39.10.722 · Cited by 250 · see citing works
Phenotypic and Genetic Heterogeneity in Congenital Generalized Lipodystrophy
Agarwal, A. K., Simha, V., Oral, E. A., Moran, S. A., Görden, P., O’Rahilly, S., Zaidi, Z., Gürakan, F., Arslanian, S. A., Klar, A., et al. (2003) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2003-030855 · Cited by 243 · see citing works
Self-citationClinical Features and Metabolic Derangements in Acquired Generalized Lipodystrophy
Misra, A., & Garg, A. (2003) · Medicine · doi:10.1097/00005792-200303000-00007 · Cited by 240 · see citing works
Self-citationLipodystrophy in Human Immunodeficiency Virus-Infected Patients
Chen, D., Misra, A., & Garg, A. (2002) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2002-020794 · Cited by 229 · see citing works
Self-citationCaron, M., Auclair, M., Donadille, B., Béréziat, V, Guerci, B., Laville, M., Narbonne, H., Bodemer, C., Lascols, O., Capeau, J., et al. (2007) · Cell Death & Differentiation · doi:10.1038/sj.cdd.4402197 · Cited by 226 · see citing works
HIV Protease Inhibitor-Related Lipodystrophy Syndrome
Carr, A. D. (2000) · Clinical Infectious Diseases · doi:10.1086/313854 · Cited by 209 · see citing works
PPAR gamma and human metabolic disease
Chatterjee, K. (2006) · 8th European Congress of Endocrinology incorporating the British Endocrine Societies · Cited by 209 · see citing works
Hegele, R. A., Cao, H., Liu, D. M., et al. (2006) · The American Journal of Human Genetics · doi:10.1086/505885 · Cited by 208 · see citing works
Caveolin-deficient mice: insights into caveolar function human disease
Razani, B., & Lisanti, M. P. (2001) · Journal of Clinical Investigation · doi:10.1172/jci14611 · Cited by 202 · see citing works
Caveolin-deficient mice: insights into caveolar function human disease
Razani, B., & Lisanti, M. P. (2001) · Journal of Clinical Investigation · doi:10.1172/jci200114611 · Cited by 201 · see citing works
The Human Lipodystrophy Gene BSCL2/Seipin May Be Essential for Normal Adipocyte Differentiation
Payne, V. A., Grimsey, N. J., Tuthill, A., Virtue, S., Gray, S. L., Nora, E. D., Semple, R. K., O’Rahilly, S., & Rochford, J. J. (2008) · Diabetes · doi:10.2337/db08-0184 · Cited by 199 · see citing works
Garg, A., Peshock, R. M., & Fleckenstein, J. L. (1999) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.84.1.5383 · Cited by 197 · see citing works
Self-citationCaux, F. A., Dubosclard, E., Lascols, O., Buendia, B., Chazouillères, O., Cohen, A. A., Courvalin, J., Laroche, L., Capeau, J., Vigouroux, C., et al. (2003) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2002-021506 · Cited by 196 · see citing works
A Gene for Congenital Generalized Lipodystrophy Maps to Human Chromosome 9q34
Garg, A., Wilson, R., Barnes, R., Arioǧlu, E., Zaidi, Z., Gürakan, F., Koçak, N., O’Rahilly, S., Taylor, S. I., Patel, S. B., et al. (1999) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.84.9.6103 · Cited by 192 · see citing works
Self-citationLay, S. L., Hajduch, É., Lindsay, M. R., Lièpvre, X. L., Thiele, C., Ferré, P., Parton, R. G., Kurzchalia, T. V., Simons, K., & Dugail, I. (2006) · Traffic · doi:10.1111/j.1600-0854.2006.00406.x · Cited by 182 · see citing works
Simha, V., & Garg, A. (2003) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2003-030835 · Cited by 180 · see citing works
Self-citationGarg, A. (2000) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.85.5.6605 · Cited by 173 · see citing works
Self-citationThe structure and functions of human lysophosphatidic acid acyltransferases
David, W. L. (2001) · Frontiers in bioscience · doi:10.2741/leung · Cited by 157 · see citing works
Localization of the gene for familial partial lipodystrophy (Dunnigan variety) to chromosome 1q21–22
Peters, J. M., Barnes, R., Bennett, L. B., Gitomer, W. M., Bowcock, A. M., & Garg, A. (1998) · Nature Genetics · doi:10.1038/ng0398-292 · Cited by 157 · see citing works
Self-citationAGPAT6 Is a Novel Microsomal Glycerol-3-phosphate Acyltransferase
Chen, Y., Kuo, M., Li, S., Bui, H. H., Peake, D. A., Sanders, P. E., Thibodeaux, S. J., Chu, S., Qian, Y., Zhao, Y., et al. (2008) · Journal of Biological Chemistry · doi:10.1074/jbc.m708151200 · Cited by 151 · see citing works
Premature Atherosclerosis Associated With Monogenic Insulin Resistance
Hegele, R. A. (2001) · Circulation · doi:10.1161/01.cir.103.18.2225 · Cited by 151 · see citing works
Genetic disorders of adipose tissue development, differentiation, and death.
Agarwal, A. K., & Garg, A. (2006) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.7.080505.115715 · Cited by 150 · see citing works
Cao, H., Alston, L. R., Ruschman, J., & Hegele, R. A. (2008) · Lipids in Health and Disease · doi:10.1186/1476-511x-7-3 · Cited by 149 · see citing works
Garg, A. (1999) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.84.1.170 · Cited by 149 · see citing works
Self-citationFan, J., Carpentier, J., OBBERGHEN, E. V., Grünfeld, C., Görden, P., & Orci, L. (1983) · Journal of Cell Science · doi:10.1242/jcs.61.1.219 · Cited by 148 · see citing works
Garg, A., Speckman, R. A., & Bowcock, A. M. (2002) · The American Journal of Medicine · doi:10.1016/s0002-9343(02)01070-7 · Cited by 146 · see citing works
Self-citationGenetic Basis of Lipodystrophies and Management of Metabolic Complications
Agarwal, A. K., & Garg, A. (2006) · Annual Review of Medicine · doi:10.1146/annurev.med.57.022605.114424 · Cited by 146 · see citing works
Self-citationSimha, V., Agarwal, A. K., Oral, E. A., Fryns, J., & Garg, A. (2003) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2002-021575 · Cited by 136 · see citing works
Self-citationNagle, C. A., Vergnes, L., DeJong, H., et al. (2008) · Journal of Lipid Research · doi:10.1194/jlr.m700592-jlr200 · Cited by 133 · see citing works
Peculiar distribution of adipose tissue in patients with congenital generalized lipodystrophy
Garg, A., Fleckenstein, J. L., Peshock, R. M., & Grundy, S. M. (1992) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.75.2.1639935 · Cited by 128 · see citing works
Self-citationMembrane topology of the human seipin protein
Lundin, C., Nordström, R., Wagner, K., et al. (2006) · FEBS Letters · doi:10.1016/j.febslet.2006.03.040 · Cited by 126 · see citing works
Köbberling Type of Familial Partial Lipodystrophy
Herbst, K. L., Tannock, L. R., Deeb, S. S., Purnell, J. Q., Brunzell, J. D., & Chait, A. (2003) · Diabetes Care · doi:10.2337/diacare.26.6.1819 · Cited by 119 · see citing works
Simha, V., & Garg, A. (2002) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.87.2.8258 · Cited by 118 · see citing works
Self-citationProgeria: A cell culture study and clinical report of familial incidence
Rautenstrauch, T., Snigula, F., Krieg, T., Gay, S., & M�ller, P. K. (1977) · European Journal of Pediatrics · doi:10.1007/bf00477545 · Cited by 95 · see citing works
Cao, J., Shan, D., Revett, T., et al. (2008) · Journal of Biological Chemistry · doi:10.1074/jbc.m800364200 · Cited by 93 · see citing works
An unidentified neonatal progeroid syndrome: Follow-up report
Wiedemann, H. ‐. (1979) · European Journal of Pediatrics · doi:10.1007/bf00441901 · Cited by 88 · see citing works
Prevalence of Mutations in AGPAT2 Among Human Lipodystrophies
Magré, J., Délepine, M., Maldergem, L. V., Robert, J., Maassen, J. A., Meier, M., Panz, V. R., Kim, C. A., Tubiana‐Rufi, N., Czernichow, P., et al. (2003) · Diabetes · doi:10.2337/diabetes.52.6.1573 · Cited by 84 · see citing works
Triglyceride containing lipid droplets and lipid droplet-associated proteins
Olofsson, S., Boström, P., Andersson, L. K., Rutberg, M., Levin, M. C., Perman, J., & Borén, J. (2008) · Current Opinion in Lipidology · doi:10.1097/mol.0b013e32830dd09b · Cited by 83 · see citing works
Risk Factors for Diabetes in Familial Partial Lipodystrophy, Dunnigan Variety
Haque, W. A., Oral, E. A., Dietz, K. R., Bowcock, A. M., Agarwal, A. K., & Garg, A. (2003) · Diabetes Care · doi:10.2337/diacare.26.5.1350 · Cited by 80 · see citing works
Self-citationCharacterization of seipin/BSCL2, a protein associated with spastic paraplegia 17
Ito, D., Fujisawa, T., Iida, H., & Suzuki, N. (2008) · Neurobiology of Disease · doi:10.1016/j.nbd.2008.05.004 · Cited by 76 · see citing works
Agarwal, A. K., & Garg, A. (2004) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2004.07.009 · Cited by 73 · see citing works
Self-citationThe Nuclear Envelope and Human Disease
Muchir, A., & Worman, H. J. (2004) · Physiology · doi:10.1152/physiol.00022.2004 · Cited by 70 · see citing works
Genetic basis of congenital generalized lipodystrophy
Agarwal, A. K., Barnes, R. I., & Garg, A. (2003) · International Journal of Obesity · doi:10.1038/sj.ijo.0802487 · Cited by 58 · see citing works
Self-citationThe structure and functions of human lysophosphatidic acid acyltransferases
Leung, D. W. (2001) · Frontiers in bioscience · doi:10.2741/a656 · Cited by 56 · see citing works
Haque, W. A., Garg, A., & Agarwal, A. K. (2004) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2004.12.024 · Cited by 54 · see citing works
Self-citationMiyoshi, Y., Akagi, M., Agarwal, A., et al. (2008) · Clinical Genetics · doi:10.1111/j.1399-0004.2008.00992.x · Cited by 52 · see citing works
Self-citationSimha, V., Agarwal, A. K., Aronin, P. A., Iannaccone, S. T., & Garg, A. (2008) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32457 · Cited by 48 · see citing works
Self-citationEbihara, K., Kusakabe, T., Masuzaki, H., Kobayashi, N., Tanaka, T., Chusho, H., Miyanaga, F., Miyazawa, T., Hayashi, T., Hosoda, K., et al. (2004) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2003-031211 · Cited by 47 · see citing works
The SHORT syndrome: further delineation and natural history.
Lipson, A., Cowell, C., & Gorlin, R. J. (1989) · Journal of Medical Genetics · doi:10.1136/jmg.26.7.473 · Cited by 36 · see citing works
Yamashita, Y., Ono, J., Okada, S., Wataya‐Kaneda, M., Yoshikawa, K., Nishizawa, M., Hirayama, Y., Kobayashi, E., Seyama, K., & Hino, O. (2000) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(20000117)90:2 · Cited by 30 · see citing works
Familial lipodystrophy associated with neurodegeneration and congenital cataracts
Berger, J. R., Oral, E. A., & Taylor, S. I. (2002) · Neurology · doi:10.1212/wnl.58.1.43 · Cited by 24 · see citing works
Koenig, R., Brendel, L., & Fuchs, S. (2003) · Clinical Dysmorphology · doi:10.1097/00019605-200301000-00008 · Cited by 23 · see citing works
Nuclear envelope proteins and human disease.
Worman, H. J. (2004) · PubMed · Cited by 3 · see citing works
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- [43]Ae Kim C Delepine M Boutet E El Mourabit H Le Lay S Meier M Nemani M Bridel E Leite CC Bertola DR Semple RK O'Rahilly S Dugail I Capeau J Lathrop M Magre J Association of a homozygous nonsense Caveolin-1 mutation with Berardinelli-Seip Congenital Lipodystrophy J Clin Endocrinol Metab 2008 18211975
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Sepe, A., Tchkonia, T., Thomou, T., Zamboni, M., & Kirkland, J. L. (2011) · Gerontology · doi:10.1159/000279755 · Cited by 232 · see citing works
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- Authors
- Garg, A., & Agarwal, A. K.
- Affiliations
- The University of Texas Southwestern Medical Center (US)
- Corresponding author
- Garg, Abhimanyu
- Agarwal, Anil K.
- Venue
- Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids
- Publisher
- Elsevier BV
- Published
- 2009-06
- Volume
- 1791
- Issue
- 6
- Pages
- 507-513
- ISSN
- 1388-1981 (ISSN-L)
- PMC
- PMC2693450
- OpenAlex
- W1985649195
- Cited by
- 184
- References
- 83
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- FWCI
- 1.58
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institutes of Health
- National Institute of Diabetes and Digestive and Kidney Diseases (R01-DK-54387, R01DK054387)
- National Center for Research Resources (UL1RR024982)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Biochemistry › Lipid metabolism and biosynthesis
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipid metabolism and disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Peroxisome Proliferator-Activated Receptors
- Keywords
- lipodystrophy, adipocytes, lipid droplet formation, congenital generalized lipodystrophy, familial partial lipodystrophy, AGPAT2, BSCL2, seipin, caveolin-1, caveolae, lamin A/C, PPARγ, AKT2, ZMPSTE24, adipogenesis, triglyceride synthesis, glycerophospholipid biosynthesis, genetic loci
- MeSH terms
- Animals, Glycerol-3-Phosphate O-Acyltransferase, Humans, Membrane Proteins, Metalloendopeptidases, Organelles, Adipocytes, Lamin Type A, GTP-Binding Protein gamma Subunits, PPAR gamma, Lipid Metabolism, Proto-Oncogene Proteins c-akt, Caveolin 1, Lipodystrophy, Familial Partial, Lipodystrophy, Congenital Generalized
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