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BSCL2 gene

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

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
Further delineation of AGPAT2 and BSCL2 related congenital generalized lipodystrophy in young infants.
2018
2018
Wrapping up the fats—a structure of the lipid droplet biogenesis protein seipin
Maria Bohnert discusses the potential functional insight into lipid droplet formation provided by Sui et al.’s new cryo-EM… 
Review
2017
Review
2017
The collaborative work of droplet assembly.
2016
2016
Impaired adipogenic capacity in induced pluripotent stem cells from lipodystrophic patients with BSCL2 mutations.
2015
2015
Diet rich in Docosahexaenoic Acid/Eicosapentaenoic Acid robustly ameliorates hepatic steatosis and insulin resistance in seipin deficient lipodystrophy mice
BackgroundN-3 polyunsaturated fatty acids (n-3 PUFAs), in particular eicosapentaenoic acid (EPA) and docosahexaenoic acid (DHA… 
Review
2014
Review
2014
Function of seipin: new insights from Bscl2/seipin knockout mouse models.
2014
2014
Motor neuropathy‐associated mutation impairs Seipin functions in neurotransmission
Gain‐of‐toxic‐function mutations in Seipin (Asparagine 88 to Serine (N88S) and Serine 90 to Leucine (S90L) mutations, both of… 
2013
2013
Seipin differentially regulates lipogenesis and adipogenesis through a conserved core sequence and an evolutionarily acquired C-terminus.
Homozygous mutations in BSCL2 (Berardinelli-Seip congenital lipodystrophy)/seipin cause CGL2 (congenital generalized… 
2013
2013
Altered Lipid Metabolism in Residual White Adipose Tissues of Bscl2 Deficient Mice
Mutations in BSCL2 underlie human congenital generalized lipodystrophy type 2 disease. We previously reported that Bscl2 −/− mice… 
2011
2011
N 88 S seipin mutant transgenic mice develop features of seipinopathy / BSCL 2-related motor neuron disease via endoplasmic reticulum stress
Heterozygosity for mutations (N88S and P90L) in the N-glycosylation site of seipin/BSCL2 is associated with the autosomal… 
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