Congenital disorders of glycosylation: new defects and still counting
نویسندگان
چکیده
منابع مشابه
Congenital disorders of glycosylation.
Congenital disorders of glycosylation (CDG) are a rapidly growing group of genetic diseases that are due to defects in the synthesis of glycans and in the attachment of glycans to other compounds. Most CDG are multisystem diseases that include severe brain involvement. The CDG causing sialic acid deficiency of N-glycans can be diagnosed by isoelectrofocusing of serum sialotransferrins. An effic...
متن کاملCongenital disorders of glycosylation. Part I. Defects of protein N-glycosylation.
Glycosylation is the most common chemical process of protein modification and occurs in every living cell. Disturbances of this process may be either congenital or acquired. Congenital disorders of glycosylation (CDG) are a rapidly growing disease family, with about 50 disorders reported since its first clinical description in 1980. Most of the human diseases have been discovered recently. CDG ...
متن کاملCongenital disorders of glycosylation. Part II. Defects of protein O-glycosylation.
Glycosylation is a form of post-translational modification of proteins and occurs in every living cell. The carbohydrate chains attached to the proteins serve various functions. There are two main types of protein glycosylation: N-glycosylation and O-glycosylation. In this paper, we describe the O-glycosylation process and currently known congenital disorders of glycosylation associated with de...
متن کاملCongenital disorders of glycosylation (CDG)
Congenital Disorders of Glycosylation (CDG) comprise permanently expanding group of inherited diseases caused by defects of multiple glycosylation pathways which disturb structure of many glycoconjugates classes. The first patients were described by Jaak Jaeken in 1980, in 1984 simple test was implemented to identify new cases. In 1995, fifteen years later, enzymatic defect was revealed as phos...
متن کاملNeural and Synaptic Defects in slytherin, a Zebrafish Model for Human Congenital Disorders of Glycosylation
Congenital disorder of glycosylation type IIc (CDG IIc) is characterized by mental retardation, slowed growth and severe immunodeficiency, attributed to the lack of fucosylated glycoproteins. While impaired Notch signaling has been implicated in some aspects of CDG IIc pathogenesis, the molecular and cellular mechanisms remain poorly understood. We have identified a zebrafish mutant slytherin (...
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ژورنال
عنوان ژورنال: Journal of Inherited Metabolic Disease
سال: 2014
ISSN: 0141-8955,1573-2665
DOI: 10.1007/s10545-014-9720-9