Seipinopathies
WebJul 12, 2011 · The Seipin/BSCL2 gene was originally identified as a loss-of-function gene for a rare autosomal recessive disease, congenital generalized lipodystrophy type 2 (CGL2), … WebSep 3, 2024 · Whole exome sequencing (WES) of the patient genome identified a novel variant, homozygous for a 52 bp intronic deletion in the AGPAT2 locus, coding for 1-acylglycerol-3-phosphate O-acyltransferase 2, which is uniquely associated with CGL1 seipinopathies, with no molecular evidence for dual diagnosis. Functional studies using …
Seipinopathies
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WebJan 1, 2012 · Heterozygosity for mutations (N88S and P90L) in the N-glycosylation site of seipin/BSCL2 is associated with the autosomal dominant motor neuron diseases, spastic paraplegia 17 and distal hereditary... WebNov 1, 2024 · Seipin (OMIM# 606158) is encoded by the human gene Berardinelli-Seip congenital lipodystrophy type 2 (BSCL2) [5] and FLD1 / SEI1 in yeast [6,7]. Seipin is an …
WebNoun seipinopathy ( countable and uncountable; pl. seipinopathys) ( pathology) A condition characterised by severe lipoatrophy, insulin resistance, hypertriglyceridaemia and mental … Web4 The manual also includes an introduction to ethics in the laboratory, uncommon in similar manuals. Most importantly, perhaps, is the authors' three-pronged approach to encouraging students to think like a research
Seipin is a homo-oligomeric integral membrane protein in the endoplasmic reticulum (ER) that concentrates at junctions with cytoplasmic lipid droplets (LDs). Alternatively, seipin can be referred to as Bernardinelli-Seip congenital lipodystrophy type 2 protein (BSCL2), and it is encoded by the corresponding … See more Though it was initially dubbed "mysterious protein", recent empirical studies are gradually starting to unveil some of seipin's most compelling physiological functions. Among these, the following have been identified: … See more Congenital generalized lipodystrophy CGL (congenital generalized lipodystrophy) is a heterogeneous genetic disorder characterized by almost complete loss of adipose tissue (both … See more Primary structure The seipin gene BSCL2 was originally identified in mammals and the fruit fly, and later extended to … See more There are three different variations of seipin's amino acid sequence: • a N → S change in position 88, does not affect protein subcellular location. • a S → L change in position … See more • UniProtKB - Q96G97 (BSCL2_HUMAN) • Common Therapies in Lipodystrophy Treatment • Silver–Russell syndrome • Endoplasmic Reticulum Stress in Beta Cells See more
WebHere, we summarize the inheritance mechanism of seipin-related diseases. (a–c) BSCL type 2, a loss-of-function, and recessive disease. (d-e) Seipinopathies, gain-of-function, and dominant diseases. (f–h) Progressive encephalopathy with or without lipodystrophy (PELD) and a gain-of-function and recessive disease.
Websociopath - someone with a sociopathic personality; a person with an antisocial personality disorder (`psychopath' was once widely used but has now been superseded by … british ceramic tile vouchersWebSeipin is a membrane-spanning protein that localizes to the endoplasmic reticulum (ER). It contains a conserved central domain comprising two transmembrane segments and a luminal loop region, as well as N- and C-terminal domains exposed to the cytosol [1,2,8,9]. can you vape at football gamesWebThe serpinopathies are best characterized by α 1 -antitrypsin deficiency in humans, which arises from the retention of this serpin in hepatocytes and is associated with liver disease. … can you vape at disneyWebJun 11, 2024 · “Seipinopathies,” a term created to refer to specific motor neuropathies, are dominant diseases caused by gain-of-function mutations, mostly related to nervous tissue … british ceramic tile parallelWebInherited neuropathies are a heterogeneous group of slowly progressive disorders affecting either motor, sensory, and/or autonomic nerves. Peripheral neuropathy may be the major component of a... british ceramic tiles uk administrationWebTo further understand the molecular pathogenesis of seipinopathies, we generated a transgenic (tg) mouse line expressing the human N88S seipin mutant with the murine Thy-1 promoter to permit analyses of in vivo phenotypic changes. The N88S seipin tg mice develop a progressive spastic motor deficit, reactive gliosis in the spinal cord and ... can you vape around oxygen machineWebNov 29, 2024 · Seipinopathies are usually characterized by degeneration of both upper and lower motor neurons. Hence, the finding of pyramidal signs (e.g. from isolated brisk reflexes to increased muscle tone and positive Babinski sign) is not uncommon. british ceramic tiles 567