Clinical and biochemical presentation of siblings with COG-7 deficiency, a lethal multiple O- and N-glycosylation disorder
| العنوان: | Clinical and biochemical presentation of siblings with COG-7 deficiency, a lethal multiple O- and N-glycosylation disorder |
|---|---|
| المؤلفون: | Jaak Jaeken, Jaap A. Bakker, Richard Steet, H. J. Sijstermans, L. J. M. Spaapen, S. B. van der Meer, Ron A. Wevers |
| المصدر: | Journal of Inherited Metabolic Disease, 28, 5, pp. 707-14 Journal of Inherited Metabolic Disease, 28, 707-14 |
| بيانات النشر: | Wiley, 2005. |
| سنة النشر: | 2005 |
| مصطلحات موضوعية: | Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Glycosylation, Energy and redox metabolism [NCMLS 4], Apolipoprotein B, Golgi Apparatus, Neuroinformatics [DCN 3], Biology, chemistry.chemical_compound, symbols.namesake, Congenital Disorders of Glycosylation, N-linked glycosylation, Internal medicine, Leukocytes, Perception and Action [DCN 1], Genetics, medicine, Humans, Protein Isoforms, Apolipoproteins C, Genetics (clinical), Glycoproteins, Family Health, chemistry.chemical_classification, Apolipoprotein C-III, Isoelectric focusing, Siblings, Conserved oligomeric Golgi complex, Transferrin, Fibroblasts, Glycostation disorders [IGMD 4], Golgi apparatus, N-Acetylneuraminic Acid, Neuromuscular development and genetic disorders [UMCN 3.1], Sialic acid, Endocrinology, Liver, Genetic defects of metabolism [UMCN 5.1], chemistry, biology.protein, symbols, Female, Isoelectric Focusing, Lysosomes, Glycoprotein, Functional Neurogenomics [DCN 2], Carbohydrate Metabolism, Inborn Errors |
| الوصف: | Contains fulltext : 48723.pdf (Publisher’s version ) (Closed access) Congenital disorders of glycosylation (CDG) represent a group of inherited multiorgan diseases caused by defects in the biosynthesis of glycoproteins. We report on two dysmorphic siblings with severe liver disease who died at the age of a few weeks. Increased activities of lysosomal enzymes in plasma were found, though total sialic acid in plasma was strongly decreased. Isoelectric focusing of serum sialotransferrins showed a type 2-like CDG pattern. Some of the known CDG subtypes were excluded. O-Glycosylation was investigated by isoelectric focusing of apolipoprotein C-III, which showed increased fractions of hyposialylated isoforms. In a consecutive study a defect in the conserved oligomeric Golgi complex was established at the level of subunit COG-7, leading to disruption of multiple glycosylation functions of the Golgi. This report on patients with a new variant of CDG, due to a multiple Golgi defect, emphasizes in addition to sialotransferrins the importance of analysis of a serum O-linked glycoprotein, e.g. apolipoprotein C-III, in unclassified CDG-X cases. |
| وصف الملف: | application/pdf |
| تدمد: | 1573-2665 0141-8955 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96af222bfb63c8e8448a8c05e0262e79Test https://doi.org/10.1007/s10545-005-0015-zTest |
| حقوق: | RESTRICTED |
| رقم الانضمام: | edsair.doi.dedup.....96af222bfb63c8e8448a8c05e0262e79 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15732665 01418955 |
|---|