Results 161 to 170 of about 166,041,693 (206)

Targeted Proteomics Reveals Quantitative Differences in Low-Abundance Glycosyltransferases of Patients with Congenital Disorders of Glycosylation. [PDF]

Int J Mol Sci
Sakson R, Beedgen L, Bernhard P, Alp KM, Lübbehusen N, Röth R, Niesler B, Luzarowski M, Shevchuk O, Mayer MP, Thiel C, Ruppert T.   +11 more
europepmc   +1 more source

Resilience in patients and family caregivers living with congenital disorders of glycosylation (CDG): a quantitative study using the brief resilience coping scale (BRCS). [PDF]

Orphanet J Rare Dis
Poejo J, Gomes AI, Granjo P, Dos Reis Ferreira V.   +3 more
europepmc   +1 more source

Multiplexed glycoproteomic analysis of glycosylation disorders by sequential IgY immunoseparation and MALDI TOF MS

, 2007
D Garozzo, R Barone, A Palmigiano, A Messina, L Sturiale   +4 more
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Oligosaccharyltransferase complex‐congenital disorders of glycosylation: A novel congenital disorder of glycosylation

American Journal of Medical Genetics Part A, 2020
AbstractCongenital disorders of glycosylation (CDG) are metabolic disorders that affect the glycosylation of proteins and lipids. Since glycosylation affects all organs, CDG show a wide spectrum of phenotypes. We present a patient with microcephaly, dysmorphic facies, congenital heart defect, focal epilepsy, infantile spasms, skeletal dysplasia, and a ...
Emily M. Bryant, John J. Millichap, Egidio Spinelli, Jeffrey D. Calhoun, Christopher Miller, Jessica Giannelli, Jacqueline Wolak, Victoria Sanders, Gemma L. Carvill, Joel Charrow   +9 more
openaire   +2 more sources

Congenital Disorders of Glycosylation

Advances in Neonatal Care, 2012
Congenital disorders of glycosylation (CDG) are a group of disorders involving a defect in the synthesis of oligosaccharides. Oligosaccharides are fundamental for protein stability and cellular communication and are present in almost every cell in the human body.
Amanda G, Woods, Christopher W, Woods, Timothy M, Snow   +2 more
openaire   +2 more sources

Glycosylation Analysis for Congenital Disorders of Glycosylation

Current Protocols in Human Genetics, 2015
AbstractCongenital disorders of glycosylation (CDG) are a group of diseases with highly variable phenotypes and inconsistent clinical features. Since the first description of a CDG in 1980, approximately 100 disorders have been identified. Most of these are defects in protein glycosylation, although an increasing number are defects of glycolipid or ...
Xueli, Li, Mohd A, Raihan, Francis Jeshira, Reynoso, Miao, He   +3 more
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Congenital Disorder of Glycosylation

Advances in Neonatal Care, 2012
Congenital disorders of glycosylation (CDG) are a group of rare genetically inherited disorders that involve the malfunction of attaching sugar molecules to lipids, proteins, or other organic molecules through an enzymatic process. The resulting defect in glycoprotein and glycolipid synthesis often has a heterogeneous range of multisystemic effects ...
Timothy M, Snow, Christopher W, Woods, Amanda G, Woods   +2 more
openaire   +2 more sources

Congenital disorders of glycosylation: genetic model systems lead the way

Trends in Cell Biology, 2001
N-linked glycosylation is the most frequent modification of secretory proteins in eukaryotic cells. The highly conserved glycosylation process is initiated in the endoplasmic reticulum (ER), where the Glc(3)Man(9)GlcNAc(2) oligosaccharide is assembled on
Thierry Hennet, Markus Aebi
exaly   +2 more sources

Cardiomyopathy in congenital disorders of glycosylation

Cardiology in the Young, 2003
Congenital disorders of glycosylation are a group of inherited metabolic multisystem disorders characterized by defects in the glycosylation of proteins and lipids. In most cases, neuromuscular disease is present. The purpose of this study was to characterize the cardiological aspects in this disorder.From the literature, we identified six children ...
Josef, Gehrmann, Kristina, Sohlbach, Michael, Linnebank, Hans-Josef, Böhles, Stephan, Buderus, Hans Gerd, Kehl, Johannes, Vogt, Erik, Harms, Thorsten, Marquardt   +8 more
openaire   +2 more sources