BSCL2 gene

Known as: BSCL2, Berardinelli-Seip congenital lipodystrophy 2 (seipin), SEIPIN 
 
National Institutes of Health

Papers overview

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2015
2015
The lipodystrophy protein SEIPIN is important for lipid droplet (LD) biogenesis in human and yeast cells. In contrast with the… (More)
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2014
2014
Seipin regulates lipid homeostasis by preventing lipid droplet (LD) formation in non-adipocytes but promoting it in developing… (More)
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2013
2013
Mutations in BSCL2/seipin cause Berardinelli–Seip congenital lipodystrophy (BSCL), a rare recessive disorder characterised by… (More)
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2010
2010
Seipin is a transmembrane protein that resides in the endoplasmic reticulum and concentrates at junctions between the ER and… (More)
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2008
2008
Seipin, which is encoded by the BSCL2 gene, is a glycoprotein of unknown biochemical function that is associated with dominant… (More)
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Highly Cited
2008
Highly Cited
2008
Lipid droplets (LDs) are emerging cellular organelles that are of crucial importance in cell biology and human diseases. In this… (More)
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Highly Cited
2007
Highly Cited
2007
Lipodystrophy is a disorder characterized by a loss of adipose tissue often accompanied by severe hypertriglyceridemia, insulin… (More)
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Highly Cited
2004
Highly Cited
2004
Distal hereditary motor neuropathy (dHMN) or distal spinal muscular atrophy (OMIM #182960) is a heterogeneous group of disorders… (More)
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Highly Cited
2002
Highly Cited
2002
Generalised lipodystrophy of the Berardinelli-Seip type (BSCL) is a rare autosomal recessive human disorder with severe adverse… (More)
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Highly Cited
2001
Highly Cited
2001
Congenital generalized lipodystrophy, or Berardinelli–Seip syndrome (BSCL), is a rare autosomal recessive disease characterized… (More)
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