Cited by 150Adipose Tissue and MetabolismPeroxisome Proliferator-Activated ReceptorsLipid metabolism and biosynthesis

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Genetic disorders of adipose tissue development, differentiation, and death.

Agarwal, Anil K., Garg, Abhimanyu·2006·Annual Review of Genomics and Human Genetics

DOI 10.1146/annurev.genom.7.080505.115715

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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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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

Show all 110 references

Research works printed but not linked: 8

10.1210/jc.80.10.3077 · DOI
Dunnigan MG, 1974, Q. J. Med., 43, 33
10.1210/jc.75.2.358 · DOI
10.1210/jc.84.9.3390 · DOI
Gorlin RJ, 1975, Birth Defects, 11, 46
10.1210/jc.87.5.2395 · DOI
Sensenbrenner JA, 1975, Birth Defects, 11, 423
10.1172/JCI200420964 · DOI

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Authors: Agarwal, A. K., & Garg, A.
Affiliations: The University of Texas Southwestern Medical Center (US)
ORCID: Agarwal, Anil K.
Garg, Abhimanyu
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
DOI: 10.1146/annurev.genom.7.080505.115715
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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Genetic disorders of adipose tissue development, differentiation, and death.

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