ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.

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Ng, Bobby G (author)

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.

Article/chapterEnglish2016

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2016-03-21
Hindawi Limited,2016

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LIBRIS-ID:oai:lup.lub.lu.se:8cd3648c-a8af-468e-b1a7-1c54640d8986
https://lup.lub.lu.se/record/8856616URI
https://doi.org/10.1002/humu.22983DOI

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Language:English
Summary in:English

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SwePubSwePub

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Subject category:art swepub-publicationtype
Subject category:ref swepub-contenttype

Notes

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.

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Shiryaev, Sergey A (author)
Rymen, Daisy (author)
Eklund, ErikLund 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 Medicine(Swepub:lu)medk-eek (author)
Raymond, Kimiyo (author)
Kircher, Martin (author)
Abdenur, Jose E (author)
Alehan, Fusun (author)
Midro, Alina T (author)
Bamshad, Michael J (author)
Barone, Rita (author)
Berry, Gerard T (author)
Brumbaugh, Jane E (author)
Buckingham, Kati J (author)
Clarkson, Katie (author)
Cole, F Sessions (author)
O'Connor, Shawn (author)
Cooper, Gregory M (author)
Van Coster, Rudy (author)
Demmer, Laurie A (author)
Diogo, Luisa (author)
Fay, Alexander J (author)
Ficicioglu, Can (author)
Fiumara, Agata (author)
Gahl, William A (author)
Ganetzky, Rebecca (author)
Goel, Himanshu (author)
Harshman, Lyndsay A (author)
He, Miao (author)
Jaeken, Jaak (author)
James, Philip M (author)
Katz, Daniel (author)
Keldermans, Liesbeth (author)
Kibaek, Maria (author)
Kornberg, Andrew J (author)
Lachlan, Katherine (author)
Lam, Christina (author)
Yaplito-Lee, Joy (author)
Nickerson, Deborah A (author)
Peters, Heidi L (author)
Race, Valerie (author)
Régal, Luc (author)
Rush, Jeffrey S (author)
Rutledge, S Lane (author)
Shendure, Jay (author)
Souche, Erika (author)
Sparks, Susan E (author)
Trapane, Pamela (author)
Sanchez-Valle, Amarilis (author)
Vilain, Eric (author)
Vøllo, Arve (author)
Waechter, Charles J (author)
Wang, Raymond Y (author)
Wolfe, Lynne A (author)
Wong, Derek A (author)
Wood, Tim (author)
Yang, Amy C (author)
Matthijs, Gert (author)
Freeze, Hudson H (author)
Pediatrik, LundSektion V (creator_code:org_t)

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In:Human Mutation: Hindawi Limited1059-7794

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By the author/editor: Ng, Bobby G; Shiryaev, Sergey ...; Rymen, Daisy; Eklund, Erik; Raymond, Kimiyo; Kircher, Martin; show more...; Abdenur, Jose E; Alehan, Fusun; Midro, Alina T; Bamshad, Michael ...; Barone, Rita; Berry, Gerard T; Brumbaugh, Jane ...; Buckingham, Kati ...; Clarkson, Katie; Cole, F Sessions; O'Connor, Shawn; Cooper, Gregory ...; Van Coster, Rudy; Demmer, Laurie A; Diogo, Luisa; Fay, Alexander J; Ficicioglu, Can; Fiumara, Agata; Gahl, William A; Ganetzky, Rebecc ...; Goel, Himanshu; Harshman, Lyndsa ...; He, Miao; Jaeken, Jaak; James, Philip M; Katz, Daniel; Keldermans, Lies ...; Kibaek, Maria; Kornberg, Andrew ...; Lachlan, Katheri ...; Lam, Christina; Yaplito-Lee, Joy; Nickerson, Debor ...; Peters, Heidi L; Race, Valerie; Régal, Luc; Rush, Jeffrey S; Rutledge, S Lane; Shendure, Jay; Souche, Erika; Sparks, Susan E; Trapane, Pamela; Sanchez-Valle, A ...; Vilain, Eric; Vøllo, Arve; Waechter, Charle ...; Wang, Raymond Y; Wolfe, Lynne A; Wong, Derek A; Wood, Tim; Yang, Amy C; Matthijs, Gert; Freeze, Hudson H; show less...

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MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Basic Medicine; and Medical Genetics

Articles in the publication: Human Mutation

By the university: Lund University

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