نتایج جستجو برای: bscl2
تعداد نتایج: 108 فیلتر نتایج به سال:
Berardinelli–Seip Congenital Lipodystrophy( BSCL) also called Congenital Generalised Lipodystrophy (CGL) is a very rare autosomal recessive metabolic syndrome with a prevalence of less than1 case in 12 million. About 200 cases have been reported so far world-wide. BSCL2 ,the more severe form of the disease with onset in the neonatal period or early infancy is present in Lebanon, Portugal, Norwa...
background: progressive encephalopathy with or without lipodystrophy is a rare autosomal recessive childhood-onset seipin-associated neurodegenerative syndrome, leading to developmental regression of motor and cognitive skills. in this study, we introduce a patient with developmental regression and autism. the causative mutation was found by exome sequencing. methods: the proband showed a gener...
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 including liver and muscle. Of the four CGL types, BSCL2 (Berardinelli-Seip Congenital lipodystrophy type 2), resulting from mutations in the BSCL2/seipin gene, exhibits the most severe lipodystrophic phenotype with loss ...
sent case, the pattern of mosaicism is difficult to classify because mosaicism of adipocytes, which are mesodermal not ectodermal tissue, is currently not well understood. It is very likely, however, that this type of segmental lipodystrophy reflects mosaicism. Investigating genes known to cause inherited, systemic lipodystrophies (eg, AGTAT2, seipin, LMNA, PPAR-g, and ZMPSTE24) could aid in pr...
How proteins control the biogenesis of cellular lipid droplets (LDs) is poorly understood. Using Drosophila and human cells, we show here that seipin, an ER protein implicated in LD biology, mediates a discrete step in LD formation-the conversion of small, nascent LDs to larger, mature LDs. Seipin forms discrete and dynamic foci in the ER that interact with nascent LDs to enable their growth. I...
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