منابع مشابه
Adipose-specific knockout of SEIPIN/BSCL2 results in progressive lipodystrophy.
Berardinelli-Seip congenital lipodystrophy type 2 (BSCL2) is the most severe form of human lipodystrophy, characterized by an almost complete loss of adipose tissue and severe insulin resistance. BSCL2 is caused by loss-of-function mutations in the BSCL2/SEIPIN gene, which is upregulated during adipogenesis and abundantly expressed in the adipose tissue. The physiological function of SEIPIN in ...
متن کاملWhole Exome Sequencing Reveals a BSCL2 Mutation Causing Progressive Encephalopathy with Lipodystrophy (PELD) in an Iranian Pediatric Patient
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...
متن کاملAkhenaten, a unique pharaoh.
February 2012, Vol. 102, No. 2 SAMJ Akhenaten, a unique pharaoh To the Editor: Retief and Cilliers1 suggest an interesting new theory about Akhenaten’s physical appearance, but omitted to refer to previously suggested differential diagnoses: for example, schistosomiasis,2 myotonic dystrophy,3 elephantiasis4 and AntleyBixler syndrome have also been suggested.5 More recently, we proposed homocyst...
متن کاملLipodystrophy Due to Adipose Tissue–Specific Insulin Receptor Knockout Results in Progressive NAFLD
Ectopic lipid accumulation in the liver is an almost universal feature of human and rodent models of generalized lipodystrophy and is also a common feature of type 2 diabetes, obesity, and metabolic syndrome. Here we explore the progression of fatty liver disease using a mouse model of lipodystrophy created by a fat-specific knockout of the insulin receptor (F-IRKO) or both IR and insulin-like ...
متن کاملRaptor/mTORC1 loss in adipocytes causes progressive lipodystrophy and fatty liver disease
OBJECTIVE Normal adipose tissue growth and function is critical to maintaining metabolic homeostasis and its excess (e.g. obesity) or absence (e.g. lipodystrophy) is associated with severe metabolic disease. The goal of this study was to understand the mechanisms maintaining healthy adipose tissue growth and function. METHODS Adipose tissue senses and responds to systemic changes in growth fa...
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ژورنال
عنوان ژورنال: The Journal of Nervous and Mental Disease
سال: 1921
ISSN: 0022-3018
DOI: 10.1097/00005053-192106000-00013