Apolipoprotein CII Amyloidosis Associated With p.Lys41Thr Mutation
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چکیده
منابع مشابه
Apolipoprotein CIISt. Michael. Familial apolipoprotein CII deficiency associated with premature vascular disease.
A 60-yr-old woman and her brother, products of a consanquinous mating, were chylomicronemic. The chylomicronemia in both subjects was found to be due to the absence of functional apoCII. A mutant form, designated apoCIISt. Michael (apoCIIs), was identified by two-dimensional electrophoresis and Western blot using anti-apoCII antiserum. The isoelectric point of apoCIIs was similar to that of nor...
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Sir, Hereditary amyloidosis is a rare disorder associated with mutations encoding seven proteins: transthyretin, apolipoproteins AI and AII, gelsolina, cystatin C, lysozyme and fibrinogen A. We report a case of renal amyloidosis affecting six members of a family, associated with a novel non-stop mutation in the apolipoprotein AII gene. A 42-year-old Caucasian male with nephrotic syndrome and re...
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Amyloidosis is caused by extracellular deposition of proteins in an insoluble manner within tissues. In hereditary forms of amyloidosis, transthyretin, fibrinogen A-α, lysozyme, gelsolin, apolipoprotein A-I, and A-II accumulate in the tissue plaques. Here we describe a 52-year-old man with no family history of renal disease who presented with increased urinary frequency, gradual loss of renal f...
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In contrast to plasma from other mammals, guinea pig plasma does not stimulate the activity of lipoprotein lipases in vitro. This has led previously to the conclusion that guinea pigs lack an analogue to apolipoprotein CII (apoCII). By adsorption of lipid-binding proteins to lipid droplets, thereby separating them from other plasma components, we could demonstrate apoCII-like activity in guine...
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ژورنال
عنوان ژورنال: Kidney International Reports
سال: 2018
ISSN: 2468-0249
DOI: 10.1016/j.ekir.2018.04.009