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Congenital Disorders of Glycosylation and Intellectual Disability
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Wolfe, Lynne A.; Krasnewich, Donna – Developmental Disabilities Research Reviews, 2013
The congenital disorders of glycosylation (CDG) are a rapidly growing group of inborn errors of metabolism that result from defects in the synthesis of glycans. Glycosylation is a major post-translational protein modification and an estimated 2% of the human genome encodes proteins for glycosylation. The molecular bases for the current 60…
Descriptors: Mental Retardation, Congenital Impairments, Metabolism, Comorbidity
Analysis of N- and O-Linked Protein Glycosylation in Children with Prader-Willi Syndrome
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Munce, T.; Heussler, H. S.; Bowling, F. G. – Journal of Intellectual Disability Research, 2010
Background: Current genotype-phenotype correlations in Prader-Willi syndrome (PWS) are struggling to give an explanation of the diversity in phenotype and there is a need to move towards a molecular understanding of PWS. A range of functions related to glycoproteins are involved in the pathophysiology of PWS and it may be that abnormal…
Descriptors: Mental Retardation, Genetic Disorders, Children, Physiology
An "in silico" Bioinformatics Laboratory Manual for Bioscience Departments: "Prediction of Glycosylation Sites in Phosphoethanolamine Transferases"
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Alyuruk, Hakan; Cavas, Levent – Journal of Biological Education, 2014
Genomics and proteomics projects have produced a huge amount of raw biological data including DNA and protein sequences. Although these data have been stored in data banks, their evaluation is strictly dependent on bioinformatics tools. These tools have been developed by multidisciplinary experts for fast and robust analysis of biological data.…
Descriptors: Genetics, Science Instruction, Science Laboratories, Information Technology
Developmental Defects in a Zebrafish Model for Muscular Dystrophies Associated with the Loss of Fukutin-Related Protein (FKRP)
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Thornhill, Paul; Bassett, David; Lochmuller, Hanns; Bushby, Kate; Straub, Volker – Brain, 2008
A number of muscular dystrophies are associated with the defective glycosylation of [alpha]-dystroglycan and many are now known to result from mutations in a number of genes encoding putative or known glycosyltransferases. These diseases include severe forms of congenital muscular dystrophy (CMD) such as Fukuyama type congenital muscular dystrophy…
Descriptors: Symptoms (Individual Disorders), Brain, Disabilities, Neurological Impairments
Glycoprotein Biochemistry (Biosynthesis)--A Vehicle for Teaching Many Aspects of Biochemistry and Molecular Biology.
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Cole, Clair R.; Smith, Christopher A. – Biochemical Education, 1990
Information about the biosynthesis of the carbohydrate portions or glycans of glycoproteins is presented. The teaching of glycosylation can be used to develop and emphasize many general aspects of biosynthesis, in addition to explaining specific biochemical and molecular biological features associated with producing the oligosaccharide portions of…
Descriptors: Biochemistry, Chemical Reactions, College Science, Enzymes
The Compartmental Organization of the Golgi Apparatus.
Rothman, James E. – Scientific American, 1985
Relations between structure and function of the Golgi apparatus are emerging from recent laboratory work on this cellular organelle which modifies proteins, sorts them, and packages them for delivery. The structure's three specialized compartments are explained through discussions of the glycosylation pathway, density-gradient experiments,…
Descriptors: Biochemistry, College Science, Cytology, Higher Education