WFRF:(Wong Derek A)
Sökning: WFRF:(Wong Derek A) > ALG1-CDG: Clinical ...
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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 05121naa a2201009 4500 | |
| 001 | oai:lup.lub.lu.se:8cd3648c-a8af-468e-b1a7-1c54640d8986 | |
| 003 | SwePub | |
| 008 | 160404s2016 | |||||||||||000 ||eng| | |
| 024 | 7 | a https://lup.lub.lu.se/record/88566162 URI |
| 024 | 7 | a https://doi.org/10.1002/humu.229832 DOI |
| 040 | a (SwePub)lu | |
| 041 | a engb eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a art2 swepub-publicationtype |
| 072 | 7 | a ref2 swepub-contenttype |
| 100 | 1 | a Ng, Bobby G4 aut |
| 245 | 1 0 | a ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. |
| 264 | c 2016-03-21 | |
| 264 | 1 | b Hindawi Limited,c 2016 |
| 520 | a Congenital disorders of glycosylation (CDG) arise from pathogenic mutations in over one hundred genes leading to impaired protein or lipid glycosylation. ALG1 encodes a β1,4 mannosyltransferase that catalyzes the addition of the first of nine mannose moieties to form a dolichol-lipid linked oligosaccharide intermediate (DLO) required for proper N-linked glycosylation. ALG1 mutations cause a rare autosomal recessive disorder termed ALG1-CDG. To date thirteen mutations in eighteen patients from fourteen families have been described with varying degrees of clinical severity. We identified and characterized thirty-nine previously unreported cases of ALG1-CDG from thirty-two families and add twenty-six new mutations. Pathogenicity of each mutation was confirmed based on its inability to rescue impaired growth or hypoglycosylation of a standard biomarker in an alg1-deficient yeast strain. Using this approach we could not establish a rank order comparison of biomarker glycosylation and patient phenotype, but we identified mutations with a lethal outcome in the first two years of life. The recently identified protein-linked xeno-tetrasaccharide biomarker, NeuAc-Gal-GlcNAc2 , was seen in all twenty-seven patients tested. Our study triples the number of known patients and expands the molecular and clinical correlates of this disorder. This article is protected by copyright. All rights reserved. | |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng |
| 700 | 1 | a Shiryaev, Sergey A4 aut |
| 700 | 1 | a Rymen, Daisy4 aut |
| 700 | 1 | a Eklund, Eriku Lund University,Lunds universitet,Pediatrik, Lund,Sektion V,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Paediatrics (Lund),Section V,Department of Clinical Sciences, Lund,Faculty of Medicine4 aut0 (Swepub:lu)medk-eek |
| 700 | 1 | a Raymond, Kimiyo4 aut |
| 700 | 1 | a Kircher, Martin4 aut |
| 700 | 1 | a Abdenur, Jose E4 aut |
| 700 | 1 | a Alehan, Fusun4 aut |
| 700 | 1 | a Midro, Alina T4 aut |
| 700 | 1 | a Bamshad, Michael J4 aut |
| 700 | 1 | a Barone, Rita4 aut |
| 700 | 1 | a Berry, Gerard T4 aut |
| 700 | 1 | a Brumbaugh, Jane E4 aut |
| 700 | 1 | a Buckingham, Kati J4 aut |
| 700 | 1 | a Clarkson, Katie4 aut |
| 700 | 1 | a Cole, F Sessions4 aut |
| 700 | 1 | a O'Connor, Shawn4 aut |
| 700 | 1 | a Cooper, Gregory M4 aut |
| 700 | 1 | a Van Coster, Rudy4 aut |
| 700 | 1 | a Demmer, Laurie A4 aut |
| 700 | 1 | a Diogo, Luisa4 aut |
| 700 | 1 | a Fay, Alexander J4 aut |
| 700 | 1 | a Ficicioglu, Can4 aut |
| 700 | 1 | a Fiumara, Agata4 aut |
| 700 | 1 | a Gahl, William A4 aut |
| 700 | 1 | a Ganetzky, Rebecca4 aut |
| 700 | 1 | a Goel, Himanshu4 aut |
| 700 | 1 | a Harshman, Lyndsay A4 aut |
| 700 | 1 | a He, Miao4 aut |
| 700 | 1 | a Jaeken, Jaak4 aut |
| 700 | 1 | a James, Philip M4 aut |
| 700 | 1 | a Katz, Daniel4 aut |
| 700 | 1 | a Keldermans, Liesbeth4 aut |
| 700 | 1 | a Kibaek, Maria4 aut |
| 700 | 1 | a Kornberg, Andrew J4 aut |
| 700 | 1 | a Lachlan, Katherine4 aut |
| 700 | 1 | a Lam, Christina4 aut |
| 700 | 1 | a Yaplito-Lee, Joy4 aut |
| 700 | 1 | a Nickerson, Deborah A4 aut |
| 700 | 1 | a Peters, Heidi L4 aut |
| 700 | 1 | a Race, Valerie4 aut |
| 700 | 1 | a Régal, Luc4 aut |
| 700 | 1 | a Rush, Jeffrey S4 aut |
| 700 | 1 | a Rutledge, S Lane4 aut |
| 700 | 1 | a Shendure, Jay4 aut |
| 700 | 1 | a Souche, Erika4 aut |
| 700 | 1 | a Sparks, Susan E4 aut |
| 700 | 1 | a Trapane, Pamela4 aut |
| 700 | 1 | a Sanchez-Valle, Amarilis4 aut |
| 700 | 1 | a Vilain, Eric4 aut |
| 700 | 1 | a Vøllo, Arve4 aut |
| 700 | 1 | a Waechter, Charles J4 aut |
| 700 | 1 | a Wang, Raymond Y4 aut |
| 700 | 1 | a Wolfe, Lynne A4 aut |
| 700 | 1 | a Wong, Derek A4 aut |
| 700 | 1 | a Wood, Tim4 aut |
| 700 | 1 | a Yang, Amy C4 aut |
| 700 | 1 | a Matthijs, Gert4 aut |
| 700 | 1 | a Freeze, Hudson H4 aut |
| 710 | 2 | a Pediatrik, Lundb Sektion V4 org |
| 773 | 0 | t Human Mutationd : Hindawi Limitedx 1059-7794 |
| 856 | 4 | u http://www.ncbi.nlm.nih.gov/pubmed/26931382?dopt=Abstracty FULLTEXT |
| 856 | 4 | u http://dx.doi.org/10.1002/humu.22983y FULLTEXT |
| 856 | 4 | u http://minerva-access.unimelb.edu.au/bitstream/11343/291084/1/humu.22983.pdf |
| 856 | 4 8 | u https://lup.lub.lu.se/record/8856616 |
| 856 | 4 8 | u https://doi.org/10.1002/humu.22983 |
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- Jaeken, Jaak
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- Yaplito-Lee, Joy
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