Pushing the envelope on lipodystrophy.
Autosomal dominant partial lipodystrophy (PLD), in which regional adipose loss is coupled with insulin resistance, is strongly associated with missense mutations in LMNA, encoding lamin A/C-a component of the nuclear envelope. This finding indicates that other proteins and functions of the nuclear envelope may have bearing on disorders of adipose tissue and insulin action.
Flier
J S
JS
D000273:Adipose Tissue / Q000473:pathology; D006801:Humans; D007333:Insulin Resistance / Q000235:genetics; D034904:Lamin Type A; D034882:Lamins; D008060:Lipodystrophy / Q000235:genetics*; D020125:Mutation, Missense; D009685:Nuclear Envelope / Q000378:metabolism; D009687:Nuclear Proteins / Q000737:chemistry / Q000235:genetics*
D034904:Lamin Type A; D034882:Lamins; D009687:Nuclear Proteins