Varaico: Literature-Extracted Genetic Variants

Gene:BSCL2
Variant:p.L91P
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BSCL2

NM_001122955.4:p.L91P

Associated Papers

Adipogenin Dictates Adipose Tissue Expansion by Facilitating the Assembly of a Dodecameric Seipin Complex.

Li C et al.

Biorxiv : the Preprint Server for Biology, 2024

Oligomers of the lipodystrophy protein seipin may co-ordinate GPAT3 and AGPAT2 enzymes to facilitate adipocyte differentiation.

Sim MFM et al.

Scientific Reports, 2020

Seipin negatively regulates sphingolipid production at the ER-LD contact site.

Su WC et al.

The Journal of Cell Biology, 2019

Cryo-electron microscopy structure of the lipid droplet-formation protein seipin.

Sui X et al.

The Journal of Cell Biology, 2018

Towards a mechanistic understanding of lipodystrophy and seipin functions.

Wee K et al.

Bioscience Reports, 2014

Control of lipid droplet size in budding yeast requires the collaboration between Fld1 and Ldb16.

Wang CW et al.

Journal of Cell Science, 2014

Analysis of naturally occurring mutations in the human lipodystrophy protein seipin reveals multiple potential pathogenic mechanisms.

Sim MF et al.

Diabetologia, 2013

Deletion mutation in BSCL2 gene underlies congenital generalized lipodystrophy in a Pakistani family.

Rahman OU et al.

Diagnostic Pathology, 2013

Seipin: from human disease to molecular mechanism.

Cartwright BR et al.

Journal of Lipid Research, 2012

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."