Familial partial lipodystrophy type 3: a new mutation on the PPARG gene (original) (raw)

• Garg A, Misra A, 2004 Lipodystrophies: rare disorders causing metabolic syndrome. Endocrinol Metab Clin North Am 33: 305–331.
  Article CAS PubMed Google Scholar
• Garg A, Agarwal AK, 2009 Lipodystrophies: Disorders of adipose tissue biology. Biochim Biophys Acta 1791: 507–513.
  Article CAS PubMed PubMed Central Google Scholar
• Haque W, Shimomura I, Matsuzawa Y, Garg A, 2002 Serum adiponectin and leptin levels in patients with lipodystrophies. J Clin Endocrinol Metab 87: 2395–2398.
  Article CAS PubMed Google Scholar
• Peters JM, Barnes R, Bennett L, Gitomer WM, Bowcock AM, Garg A, 1998 Localization of the gene for familial partial lipodystrophy (Dunnigan variety) to chromosome 1q21-22. Nat Genet 18: 292–295.
  Article CAS PubMed Google Scholar
• Garg A, 2011 Lipodystrophies: Genetic and Acquired Body Fat Disorders. J Clin Endocrinol Metab 96: 3313–3325.
  Article CAS PubMed PubMed Central Google Scholar
• Agarwal A, Garg A, 2002 A Novel Heterozygous Mutation in Peroxisome Proliferator-Activated Receptor-γ Gene in a Patient with Familial Partial Lipodystrophy. J Clin Endocrinol Metab 87: 1408–1411.
  Google Scholar
• George S, Rochford JJ, Wolfrum C, et al, 2004 A family with severe insulin resistance and diabetes due to a mutation in AKT2. Science 304: 1325–1328.
  Article CAS PubMed PubMed Central Google Scholar
• Rubio-Cabezas O, Puri V, Murano I, et al, 2009 Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation in CIDEC. EMBO Mol Med 1: 280–287.
  Article CAS PubMed PubMed Central Google Scholar
• Gandotra S, Le Dour C, Bottomley W, et al, 2011 Perilipin deficiency and autosomal dominant partial lipodystrophy. N Engl J Med 364: 740–748.
  Article CAS PubMed PubMed Central Google Scholar
• Olofsson SO, Boström P, Andersson L, et al, 2008 Triglyceride containing lipid droplets and lipid droplet-associated proteins. Curr Opin Lipidol 19: 441–447.
  Article CAS PubMed Google Scholar
• Jeninga E, Kalkhoven E, 2010 Central players in inherited lipodystrophies. Trends Endocrinol Metab 21: 581–588.
  Article CAS PubMed Google Scholar
• Garg A, 2004 Acquired and inherited lipodistrophies. N Engl J Med 350: 1220–1234.
  Article CAS PubMed Google Scholar
• Tan G, Savage D, Fielding B, et al, 2008 Fatty acid metabolism in patients with ppargamma mutations. J Clin Endocrinol Metab 93: 4462–4470.
  Article CAS PubMed Google Scholar
• Freitas P, Santos AC, Carvalho D, et al, 2010 Fat mass ratio: an objective tool to define lipodystrophy in HIV-infected patients under antiretroviral therapy. J Clin Densitom 13: 197–203.
  Article PubMed Google Scholar
• Vantyghem MC, Balavoine AS, Douillard C, et al, 2012 How to diagnose a lipodystrophy syndrome. Ann Endocrinol (Paris) 73: 170–189.
  Article CAS Google Scholar
• Fardet L, Vigouroux C, Capeau J, 2013 Syndromes lipodystrophiques. Rev Med Interne 34: 614–622.
  Article CAS PubMed Google Scholar
• Semple R, Chatterjee V, Rahilly S, 2006 PPAR-gamma and human metabolic disease. J Clin Invest 116: 581–589.
  Article CAS PubMed PubMed Central Google Scholar
• He W, Barak Y, Hevener A, et al, 2003 Adipose-specific peroxisome proliferator-activated receptor gamma knockout causes insulin resistance in fat and liver but not in muscle. Proc Natl Acad Sci U S A 100: 15712–15717.
  Article CAS PubMed PubMed Central Google Scholar
• Medina-Gomes G, Gray S, Vidal-Puig A, 2007 Adipogenesis and lipotoxicity: role of peroxisome proliferator-activated receptor g (PPARg) and PPARgcoactivator-1 (PGC1). Public Health Nutrition 10: 1132–1137.
  Google Scholar
• Hegele R, Joy T, Al-Attar D, Rutt B, 2007 Lipodystrophies: windows on adipose biology and metabolism. J Lipid Res 48: 1433–1444.
  Article CAS PubMed Google Scholar
• Visser M, Kropman E, Kranendonk, et al, 2011 Characterization of non-obese diabetic patients with marked insulin resistance identifies a novel familial partial lipodystrophy-associated PPAR-gamma mutation (Y151C). Diabetologia 54: 1639–1644.
  Article CAS PubMed PubMed Central Google Scholar
• Semple R, Savage D, Cochran E, Gorden P, O’Rahilly S, 2011 Genetic syndromes of severe insulin resistance. Endocr Rev 32: 498–514.
  Article CAS PubMed Google Scholar
• Monajemi H, Zhang L, Li G, et al, 2007 Familial Partial lipodistrophy phenotype resulting from a single-base mutation in deoxyribonucleic acid-binding domain of peroxisome proliferator-activated receptor-gamma. J Clin Endocrinol Metab 92: 1606–1612.
  Article CAS PubMed Google Scholar
• Walker UA, Kirschfink M, Peter HH, 2003 Improvement of acquired partial lipodystrophy with rosiglitazone despite ongoing complement activation. Rheumatology 42: 393–394.
  Article CAS PubMed Google Scholar
• Chong AY, Lupsa BC, Cochran EK, Gorden P, 2010 Efficacy of leptin therapy in the different forms of human lipodystrophy. Diabetologia 53: 27–35.
  Article CAS PubMed Google Scholar
• Fiorenza C, Chou S, Mantzoros C, 2011 Lipodystrophy: pathophysiology and advances in treatment. Nat Rev Endocrinol 7: 137–150.
  Article CAS PubMed Google Scholar