The DOI matches its Crossref record; 112 of the 112 references it cites were found in a registry or an index.
Genetic disorders of adipose tissue development, differentiation, and death.
Abstract
Lack of adipose tissue, either complete or partial, is the hallmark of disorders known as lipodystrophies. Patients with lipodystrophies suffer from metabolic complications similar to those associated with obesity, including insulin resistance, type 2 diabetes, hypertriglyceridemia, and hepatic steatosis. The loss of body fat in inherited lipodystrophies can be caused by defects in the development and/or differentiation of adipose tissue as a consequence of mutations in a number of genes, including PPARG (encoding a nuclear hormone receptor), AGPAT2 (encoding an enzyme involved in the biosynthesis of triglyceride and phospholipids), AKT2 (encoding a protein involved in insulin signal transduction), and BSCL2 (encoding seipin, whose role in the adipocyte biology remains unclear). The loss of body fat can also be caused by the premature death of adipocytes due to mutations in lamin A/C, nuclear lamina proteins, and ZMPSTE24, which modifies the prelamin A post-translationally. In this review, we focus on the molecular basis of inherited lipodystrophies as they relate to adipocyte biology and their associated phenotypic manifestations.
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“Hepatic lipid accumulation may result when adipose lipid storage capacity is exceeded, as in obesity or adipocyte dysfunction (e.g., lipodystrophy) (213).”
From The role of mitochondria in the pathogenesis of type 2 diabetes (2010) · cites this paper as [213]
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Cites
Epigenetic differences arise during the lifetime of monozygotic twins
Fraga, M. F., Ballestar, E., Paz, M. F., Ropero, S., Setien, F., Ballestar, M. L., Heine-Suñer, D., Cigudosa, J. C., Urioste, M., Benitez, J., et al. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0500398102 · Cited by 3,602
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
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome
Eriksson, M., Brown, W. T., Gordon, L. B., Glynn, M. W., Singer, J., Scott, L., Erdos, M. R., Robbins, C. M., Moses, T. Y., Berglund, P., et al. (2003) · Nature · doi:10.1038/nature01629 · Cited by 1,990
PPARγ Is Required for Placental, Cardiac, and Adipose Tissue Development
Barak, Y., Nelson, M. C., Ong, E. S., Jones, Y., Ruiz‐Lozano, P., Chien, K. R., Koder, A., & Evans, R. M. (1999) · Molecular Cell · doi:10.1016/s1097-2765(00)80209-9 · Cited by 1,983
The activation of Akt/PKB signaling pathway and cell survival
Song, G., Ouyang, G., & Bao, S. (2005) · Journal of Cellular and Molecular Medicine · doi:10.1111/j.1582-4934.2005.tb00337.x · Cited by 1,920
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy
Bonne, G., di Barletta, M. R., Varnous, S., Bécane, H. M., Hammouda, E.-H., Merlini, L., Muntoni, F., Greenberg, C. R., Gary, F., Urtizberea, J. A., et al. (1999) · Nature Genetics · doi:10.1038/6799 · Cited by 1,384
PPARγ Mediates High-Fat Diet–Induced Adipocyte Hypertrophy and Insulin Resistance
Kubota, N., Terauchi, Y., Miki, H., Tamemoto, H., Yamauchi, T., Komeda, K., Satoh, S., Nakano, R., Ishii, C., 杉山, 拓., et al. (1999) · Molecular Cell · doi:10.1016/s1097-2765(00)80210-5 · Cited by 1,351
Leptin-Replacement Therapy for Lipodystrophy
Oral, E. A., Simha, V., Ruiz, E., Andewelt, A., Premkumar, A., Snell, P., Wagner, A. J., DePaoli, A. M., Reitman, M. L., Taylor, S. I., et al. (2002) · New England Journal of Medicine · doi:10.1056/nejmoa012437 · Cited by 1,247
Loss of a-Type Lamin Expression Compromises Nuclear Envelope Integrity Leading to Muscular Dystrophy
Sullivan, T. L., Escalante‐Alcalde, D., Bhatt, H., Anver, M. R., Bhat, N. R., Nagashima, K., Stewart, C. L., & Burke, B. E. (1999) · The Journal of Cell Biology · doi:10.1083/jcb.147.5.913 · Cited by 1,224
Acquired and Inherited Lipodystrophies
Garg, A. (2004) · New England Journal of Medicine · doi:10.1056/nejmra025261 · Cited by 940
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MAGIC, Heid, I. M., Jackson, A. U., Randall, J. C., Winkler, T. W., Qi, L., Steinthorsdottir, V., Thorleifsson, G., Zillikens, M. C., Speliotes, E. K., et al. (2010) · Nature Genetics · doi:10.1038/ng.685 · Cited by 931
Adipocytokines and the Metabolic Complications of Obesity
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Altered adipose tissue and adipocyte function in the pathogenesis of metabolic syndrome
Kahn, C. R., Wang, G., & Lee, K. Y. (2019) · Journal of Clinical Investigation · doi:10.1172/jci129187 · Cited by 686
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
Metadata
- Authors
- Agarwal, A. K., & Garg, A.
- Affiliations
- The University of Texas Southwestern Medical Center (US)
- Venue
- Annual Review of Genomics and Human Genetics
- Publisher
- Annual Reviews
- Published
- 2006-09-01
- Volume
- 7
- Issue
- 1
- Pages
- 175-199
- ISSN
- 1527-8204 (ISSN-L)
- 1545-293X
- OpenAlex
- W2121791963
- Cited by
- 150
- References
- 110
- Citations by year
- 2025: 4 · 2024: 4 · 2023: 5 · 2022: 5 · 2021: 6 · 2020: 3 · 2019: 6 · 2018: 6 · 2017: 6 · 2016: 9 · 2015: 10 · 2014: 9 · 2013: 12 · 2012: 9
- FWCI
- 1.28
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Annual Review of Genomics and Human Genetics (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Southwestern Medical Foundation
- National Institutes of Health
- National Institute of Diabetes and Digestive and Kidney Diseases (R01DK054387)
- National Center for Research Resources (M01RR000633)
- Topics
- Health Sciences › Medicine › Physiology (medical) › Adipose Tissue and Metabolism
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Peroxisome Proliferator-Activated Receptors
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Biochemistry › Lipid metabolism and biosynthesis
- Keywords
- lipodystrophy, adipose tissue development, adipogenesis, adipocyte death, PPARγ, AGPAT2, AKT2, BSCL2, seipin, lamin A/C, nuclear lamina, ZMPSTE24, prelamin A, insulin resistance, type 2 diabetes, hypertriglyceridemia, hepatic steatosis
- MeSH terms
- Adipose Tissue, Cell Differentiation, Humans, Lipodystrophy, Cell Death, Genetic Diseases, Inborn, Lipid Metabolism Disorders
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