| Title |
SGK196 Is a Glycosylation-Specific O-Mannose Kinase Required for Dystroglycan Function
|
|---|---|
| Published in |
Science, August 2013
|
| DOI | 10.1126/science.1239951 |
| Pubmed ID | |
| Authors | |
| Abstract |
Phosphorylated O-mannosyl trisaccharide [N-acetylgalactosamine-β3-N-acetylglucosamine-β4-(phosphate-6-)mannose] is required for dystroglycan to bind laminin-G domain-containing extracellular proteins with high affinity in muscle and brain. However, the enzymes that produce this structure have not been fully elucidated. We found that glycosyltransferase-like domain-containing 2 (GTDC2) is a protein O-linked mannose β 1,4-N-acetylglucosaminyltransferase whose product could be extended by β 1,3-N-acetylgalactosaminyltransferase2 (B3GALNT2) to form the O-mannosyl trisaccharide. Furthermore, we identified SGK196 as an atypical kinase that phosphorylated the 6-position of O-mannose, specifically after the mannose had been modified by both GTDC2 and B3GALNT2. These findings suggest how mutations in GTDC2, B3GALNT2, and SGK196 disrupt dystroglycan receptor function and lead to congenital muscular dystrophy. |
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Geographical breakdown
| Country | Count | As % |
|---|---|---|
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| Japan | 1 | 33% |
| Unknown | 1 | 33% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 2 | 67% |
| Science communicators (journalists, bloggers, editors) | 1 | 33% |
Mendeley demographics
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 4 | 4% |
| United Kingdom | 4 | 4% |
| Japan | 1 | <1% |
| Spain | 1 | <1% |
| China | 1 | <1% |
| Unknown | 102 | 90% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
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| Researcher | 21 | 19% |
| Student > Bachelor | 10 | 9% |
| Professor > Associate Professor | 10 | 9% |
| Student > Master | 8 | 7% |
| Other | 23 | 20% |
| Unknown | 19 | 17% |
| Readers by discipline | Count | As % |
|---|---|---|
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| Biochemistry, Genetics and Molecular Biology | 28 | 25% |
| Medicine and Dentistry | 11 | 10% |
| Chemistry | 6 | 5% |
| Pharmacology, Toxicology and Pharmaceutical Science | 2 | 2% |
| Other | 6 | 5% |
| Unknown | 23 | 20% |