PPARG F388L, a Transactivation-Deficient Mutant, in Familial Partial Lipodystrophy
نویسندگان
چکیده
منابع مشابه
PPARG F388L, a transactivation-deficient mutant, in familial partial lipodystrophy.
Autosomal dominant familial partial lipodystrophy (FPLD) due to mutant LMNA encoding nuclear lamin A/C is characterized by adipose tissue repartitioning together with multiple metabolic disturbances, including insulin resistance and dyslipidemia. There is emerging evidence that some rare mutations in peroxisome proliferator-activated receptor-gamma (PPAR-gamma), encoded by PPARG, might be assoc...
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Familial partial lipodystrophy is an autosomal dominant genetic disorder characterized by lipoatrophy of the extremities and gluteal region and lipohypertrophy of the face, neck and/or trunk. It is associated with insulin resistance, hypertriglyceridemia and increased risk of recurrent episodes of pancreatitis. The PPARG mutation forms, called familial partial lipodystrophies type 3, are very r...
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The peroxisome proliferator-activated receptors (PPARs) are transcription factors that regulate glucose and lipid metabolism. The role of PPARs in several chronic diseases such as type 2 diabetes, obesity and atherosclerosis is well known and, for this reason, they are the targets of antidiabetic and hypolipidaemic drugs. In the last decade, some rare mutations in human PPARγ that might be asso...
متن کاملStructure of the lamin A/C R482W mutant responsible for dominant familial partial lipodystrophy (FPLD).
Proteins of the A-type lamin family, which consists of two members, lamin A and lamin C, are the major components of a thin proteinaceous filamentous meshwork, the lamina, that underlies the inner nuclear membrane. A-type lamins have recently become the focus of extensive functional studies as a consequence of the linking of at least eight congenital diseases to mutations in the lamin A/C gene ...
متن کاملConsider cardiomyopathy in subjects with familial partial lipodystrophy.
Familial Partial Lipodystrophy To the Editor: Hegele1 excellently described the presence of premature coronary artery disease in 8 out of 23 adult subjects (aged above 35 years) with familial partial lipodystrophy (FPL) carrying LMNA mutations. His intriguing observations underline the striking similarity between FPL and the metabolic syndrome (also called syndrome X). The latter is known to re...
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ژورنال
عنوان ژورنال: Diabetes
سال: 2002
ISSN: 0012-1797,1939-327X
DOI: 10.2337/diabetes.51.12.3586