Congenital protein hypoglycosylation diseases
Susan E SparksDepartment of Pediatrics, Levine Children's Hospital at Carolinas Medical Center, Charlotte, NC, USA; Department of Pediatrics, University of North Carolina School of Medicine, Chapel Hill, NC, USAAbstract: Glycosylation is an essential process by which sugars are attached...
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Dove Medical Press
2012-07-01
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| Series: | The Application of Clinical Genetics |
| Online Access: | http://www.dovepress.com/congenital-protein-hypoglycosylation-diseases-a10305 |
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doaj-99190daf700949f3ab2550c836b4b52f2020-11-24T22:35:12ZengDove Medical PressThe Application of Clinical Genetics1178-704X2012-07-012012default4354Congenital protein hypoglycosylation diseasesSparks SESusan E SparksDepartment of Pediatrics, Levine Children's Hospital at Carolinas Medical Center, Charlotte, NC, USA; Department of Pediatrics, University of North Carolina School of Medicine, Chapel Hill, NC, USAAbstract: 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.Keywords: congenital disorders of glycosylation, dystroglycanopathies, hypoglycosylation, glycoproteinshttp://www.dovepress.com/congenital-protein-hypoglycosylation-diseases-a10305 |
| collection |
DOAJ |
| language |
English |
| format |
Article |
| sources |
DOAJ |
| author |
Sparks SE |
| spellingShingle |
Sparks SE Congenital protein hypoglycosylation diseases The Application of Clinical Genetics |
| author_facet |
Sparks SE |
| author_sort |
Sparks SE |
| title |
Congenital protein hypoglycosylation diseases |
| title_short |
Congenital protein hypoglycosylation diseases |
| title_full |
Congenital protein hypoglycosylation diseases |
| title_fullStr |
Congenital protein hypoglycosylation diseases |
| title_full_unstemmed |
Congenital protein hypoglycosylation diseases |
| title_sort |
congenital protein hypoglycosylation diseases |
| publisher |
Dove Medical Press |
| series |
The Application of Clinical Genetics |
| issn |
1178-704X |
| publishDate |
2012-07-01 |
| description |
Susan E SparksDepartment of Pediatrics, Levine Children's Hospital at Carolinas Medical Center, Charlotte, NC, USA; Department of Pediatrics, University of North Carolina School of Medicine, Chapel Hill, NC, USAAbstract: 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.Keywords: congenital disorders of glycosylation, dystroglycanopathies, hypoglycosylation, glycoproteins |
| url |
http://www.dovepress.com/congenital-protein-hypoglycosylation-diseases-a10305 |
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AT sparksse congenitalproteinhypoglycosylationdiseases |
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