The most-severe form of congenital generalized lipodystrophy (CGL) is caused by mutations
in BSCL2/seipin. Seipin is a homo-oligomeric integral membrane protein in the endoplasmic …

Context: Lipodystrophy syndromes are characterized by generalized or partial absence of
adipose tissue. Objective: We conducted a systematic review to synthesize data on clinical …

Berardinelli-Seip congenital lipodystrophy (BSCL) is a rare disease characterized by the
near total absence of body fat at birth. BSCL etiology involves genetic variations in four …

Celia's encephalopathy or progressive encephalopathy with/without lipodystrophy is a
neurodegenerative disease with a fatal prognosis in childhood. It is generally caused by the …

CGL (Congenital generalized lipodystrophy) is a genetic disorder characterized by near
complete loss of adipose tissue along with increased ectopic fat storage in other organs …

Seipin is a nonenzymatic protein encoded by the BSCL2 gene. It is involved in lipodystrophy
and seipinopathy diseases. Named in 2001, all seipin functions are still far from being …

Background and objectives Congenital generalized lipodystrophy (CGL) is a rare autosomal
recessive disorder with two major subtypes, which are caused by AGPAT2 and BSCL2 …

目的报告1 例先天性全身性脂肪营养不良(CGL) 患儿的临床特点及随访情况, 提高对该病的认识.
方法分析1 例CGL 患儿病史, 实验室检查和5 年随访资料, 对先证者及其父母行基因检测 …

Seipin, encoded by the BSCL2 gene, is a protein that in humans is expressed mainly in the
central nervous system. Uniquely, certain variants in BSCL2 can cause both generalized …

Illumina RNA-seq analysis was used to characterize the whole transcriptomes of peripheral
blood mononuclear cells (PBMCs) from patients with congenital generalized lipodystrophy …