نتایج جستجو برای: seip
تعداد نتایج: 176 فیلتر نتایج به سال:
A bizarre disorder was recently encountered in a female child. There was severe lipodystrophy affecting the entire body, generalized muscular hypertrophy, large hands and feet, a markedly protuberant abdomen, hepatomegaly with biochemical and histological evidence of liver dysfunction, a large clitoris, enlarged cystic ovaries and a low fasting blood sugar concentration. This entity is not uniq...
Berardinelli-Seip congenital lipodystrophy 2 (BSCL2) is caused by loss-of-function mutations in SEIPIN, a protein implicated in both adipogenesis and lipid droplet expansion but whose molecular function remains obscure. Here, we identify physical and functional interactions between SEIPIN and microsomal isoforms of glycerol-3-phosphate acyltransferase (GPAT) in multiple organisms. Compared to c...
Berardinelli-Seip congenital lipodystrophy type 2 (BSCL2) is an autosomal recessive disorder characterized by an almost complete loss of adipose tissue, insulin resistance and fatty liver. Here, we create the first murine model of BSCL2 by targeted disruption of seipin, the causative gene for BSCL2. Compared with their wild-type littermates, the seipin(-/-) mice are viable and of normal weight ...
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