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Congenital protein hypoglycosylation diseases
Glycosylation is an essential process by which sugars are attached to proteins and lipids. Complete lack of glycosylation is not compatible with life. Because of the widespread function of glycosylation, inherited disorders of glycosylation are multisystemic. Since the identification of the first de...
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Dove Medical Press
2012
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3681192/ https://www.ncbi.nlm.nih.gov/pubmed/23776380 http://dx.doi.org/10.2147/TACG.S18673 |
Sumario: | Glycosylation is an essential process by which sugars are attached to proteins and lipids. Complete lack of glycosylation is not compatible with life. Because of the widespread function of glycosylation, inherited disorders of glycosylation are multisystemic. Since the identification of the first defect on N-linked glycosylation in the 1980s, there are over 40 different congenital protein hypoglycosylation diseases. This review will include defects of N-linked glycosylation, O-linked glycosylation and disorders of combined N- and O-linked glycosylation. |
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