کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
9879432 | 1534758 | 2005 | 9 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
A combined defect in the biosynthesis of N- and O-glycans in patients with cutis laxa and neurological involvement: the biochemical characteristics
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کلمات کلیدی
CMP-NeuAcUDP-GalApoC-IIIO-GlycosylationIEFNeuAcCDGTBGECMGalNAcN-acetylgalactosamineN-glycosylation - N-گلیکوزیلتcongenital disorder of glycosylation - اختلال مادرزادی گلیسوزیله شدنCongenital disorders of glycosylation - اختلالات مادرزادی گلیکوزیلاتisoelectric focusing - تمرکز ذره ای الکتریکیExtracellular matrix - ماتریکس خارج سلولیCutis laxa - پوست شلGal - گالGalactose - گالاکتوزمی thyroxine-binding globulin - گلوبولین اتصال دهنده تیروکسین
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
سالمندی
پیش نمایش صفحه اول مقاله
![عکس صفحه اول مقاله: A combined defect in the biosynthesis of N- and O-glycans in patients with cutis laxa and neurological involvement: the biochemical characteristics A combined defect in the biosynthesis of N- and O-glycans in patients with cutis laxa and neurological involvement: the biochemical characteristics](/preview/png/9879432.png)
چکیده انگلیسی
Based on our preliminary observation of abnormal glycosylation in a cutis laxa patient, nine cutis laxa patients were analyzed for congenital defects of glycosylation (CDG). Isoelectric focusing of plasma transferrin and apolipoproteinC-III showed that three out of nine patients had a defect in the biosynthesis of N-glycans and core 1 mucin type O-glycans, respectively. Mass spectrometric N-glycan analyses revealed a relative increase of glycans lacking sialic acid and glycans lacking sialic acid and galactose residues. Mutation analysis of the fibulin-5 gene (FBLN5), which has been reported in cases of autosomal recessive cutis laxa, revealed no mutations in the patients' DNA. Evidence is presented that extracellular matrix (ECM) proteins of skin are likely to be highly glycosylated with N- and/or mucin type O-glycans by using algorithms for predicting glycosylation. The conclusions in this study were that the clinical phenotype of autosomal recessive cutis laxa seen in three patients is not caused by mutations in the FBLN5 gene. Our findings define a novel form of CDG with cutis laxa and neurological involvement due to a defect in the sialylation and/or galactosylation of N- and O-glycans. Improper glycosylation of ECM proteins of skin may form the pathophysiological basis for the cutis laxa phenotype.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease - Volume 1741, Issues 1â2, 30 June 2005, Pages 156-164
Journal: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease - Volume 1741, Issues 1â2, 30 June 2005, Pages 156-164
نویسندگان
Suzan Wopereis, Ãva Morava, Stephanie Grünewald, Philippa B. Mills, Bryan G. Winchester, Peter Clayton, Paul Coucke, Karin M.L.C. Huijben, Ron A. Wevers,