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Keywords: Seipin
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Journal Articles
In collection:
Rare Disease Translational Research
Journal:
Disease Models & Mechanisms
Dis Model Mech (2024) 17 (6): dmm050524.
Published: 16 April 2024
...Xiaofei Bai; Harold E. Smith; Andy Golden ABSTRACT Seipin (BSCL2), a conserved endoplasmic reticulum protein, plays a critical role in lipid droplet (LD) biogenesis and in regulating LD morphology, pathogenic variants of which are associated with Berardinelli–Seip congenital generalized...
Includes: Supplementary data
Journal Articles
Journal:
Disease Models & Mechanisms
Dis Model Mech (2015) 8 (12): 1615–1624.
Published: 1 December 2015
...Guoxi Li; Libin Zhou; Ying Zhu; Conghui Wang; Sha Sha; Xunde Xian; Yong Ji; George Liu; Ling Chen ABSTRACT The seipin gene ( BSCL2 ) was originally identified in humans as a loss-of-function gene associated with congenital generalized lipodystrophy type 2 (CGL2). Neuronal seipin-knockout (seipin...
Includes: Supplementary data