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Autor
Altassan, Ruqaiah 1 Beamer, Lesa 1 Bird, Matthew J 1 Cassiman, David 1 Edmondson, Andrew C 1 Eminoglu, Tuba F 1 Emmerzaal, Tim L 1 Felgueira, Catarina 1 Ghesquière, Bart 1 Hertecant, Jozef 1 Himmelreich, Nastassja 1 Honzik, Tomas 1 James, Phillip M 1 Kozicz, Tamas 1 Morava, Eva 1 Poschet, Gernot 1 Radenkovic, Silvia 1 Sabbagh, Leila 1 Stiers, Kyle M 1 Thiel, Christian 1
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Pracoviště
Biochemistry Department University of... 1 Center for Child and Adolescent Medic... 1 Center of Individualized Medicine Dep... 1 Centre for Organismal Studies Univers... 1 Clinical Department of Laboratory Med... 1 Department of Anatomy Radboud Univers... 1 Department of Cardiovascular Sciences... 1 Department of Pediatric Metabolism an... 1 Department of Pediatrics United Arab ... 1 Department of Pediatrics and Adolesce... 1 Division of Human Genetics Department... 1 Hayward Genetics Center Tulane Univer... 1 Laboratory of Hepatology Department o... 1 Medical Genetics Department Montréal ... 1 Metabolic Center University Hospitals... 1 Metabolomics Expertise Center Center ... 1 Metabolomics Expertise Center Departm... 1 Phoenix Children's Medical Group Gene... 1
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Autor
Altassan, Ruqaiah 1 Beamer, Lesa 1 Bird, Matthew J 1 Cassiman, David 1 Edmondson, Andrew C 1 Eminoglu, Tuba F 1 Emmerzaal, Tim L 1 Felgueira, Catarina 1 Ghesquière, Bart 1 Hertecant, Jozef 1 Himmelreich, Nastassja 1 Honzik, Tomas 1 James, Phillip M 1 Kozicz, Tamas 1 Morava, Eva 1 Poschet, Gernot 1 Radenkovic, Silvia 1 Sabbagh, Leila 1 Stiers, Kyle M 1 Thiel, Christian 1
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Pracoviště
Biochemistry Department University of... 1 Center for Child and Adolescent Medic... 1 Center of Individualized Medicine Dep... 1 Centre for Organismal Studies Univers... 1 Clinical Department of Laboratory Med... 1 Department of Anatomy Radboud Univers... 1 Department of Cardiovascular Sciences... 1 Department of Pediatric Metabolism an... 1 Department of Pediatrics United Arab ... 1 Department of Pediatrics and Adolesce... 1 Division of Human Genetics Department... 1 Hayward Genetics Center Tulane Univer... 1 Laboratory of Hepatology Department o... 1 Medical Genetics Department Montréal ... 1 Metabolic Center University Hospitals... 1 Metabolomics Expertise Center Center ... 1 Metabolomics Expertise Center Departm... 1 Phoenix Children's Medical Group Gene... 1
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Radenkovic, Silvia
Autor Radenkovic, Silvia Metabolomics Expertise Center, Center for Cancer Biology, VIB Center for Cancer Biology, 3000 Leuven, Belgium Laboratory of Hepatology, Department of Chronic Diseases, Metabolism and Aging, Katholieke Universiteit Leuven, 3000 Leuven, Belgium Metabolomics Expertise Center, Department of Oncology, Katholieke Universiteit Leuven, 3000 Leuven, Belgium
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Bird, Matthew J
Autor Bird, Matthew J Metabolomics Expertise Center, Center for Cancer Biology, VIB Center for Cancer Biology, 3000 Leuven, Belgium Laboratory of Hepatology, Department of Chronic Diseases, Metabolism and Aging, Katholieke Universiteit Leuven, 3000 Leuven, Belgium Metabolomics Expertise Center, Department of Oncology, Katholieke Universiteit Leuven, 3000 Leuven, Belgium Clinical Department of Laboratory Medicine, University Hospitals Leuven, 3000 Leuven, Belgium
- Emmerzaal, Tim L
- Wong, Sunnie Y
- Felgueira, Catarina
- Stiers, Kyle M
- Sabbagh, Leila
- Himmelreich, Nastassja
- Poschet, Gernot
- Windmolders, Petra
Digitální knihovna NLK
Plný text - Článek
Free Medical Journals od 1949 do Před 6 měsíci
PubMed Central od 1949 do Před 6 měsíci
Europe PubMed Central od 1949 do Před 6 měsíci
Open Access Digital Library od 2005-01-01
Elsevier Open Archive Journals od 1997 do Před 6 měsíci
PubMed
30982613
DOI
10.1016/j.ajhg.2019.03.003
Knihovny.cz E-zdroje
Phosphoglucomutase 1 (PGM1) encodes the metabolic enzyme that interconverts glucose-6-P and glucose-1-P. Mutations in PGM1 cause impairment in glycogen metabolism and glycosylation, the latter manifesting as a congenital disorder of glycosylation (CDG). This unique metabolic defect leads to abnormal N-glycan synthesis in the endoplasmic reticulum (ER) and the Golgi apparatus (GA). On the basis of the decreased galactosylation in glycan chains, galactose was administered to individuals with PGM1-CDG and was shown to markedly reverse most disease-related laboratory abnormalities. The disease and treatment mechanisms, however, have remained largely elusive. Here, we confirm the clinical benefit of galactose supplementation in PGM1-CDG-affected individuals and obtain significant insights into the functional and biochemical regulation of glycosylation. We report here that, by using tracer-based metabolomics, we found that galactose treatment of PGM1-CDG fibroblasts metabolically re-wires their sugar metabolism, and as such replenishes the depleted levels of galactose-1-P, as well as the levels of UDP-glucose and UDP-galactose, the nucleotide sugars that are required for ER- and GA-linked glycosylation, respectively. To this end, we further show that the galactose in UDP-galactose is incorporated into mature, de novo glycans. Our results also allude to the potential of monosaccharide therapy for several other CDG.
- MeSH
- fibroblasty účinky léků metabolismus patologie MeSH
- fosfoglukomutasa nedostatek MeSH
- galaktosa aplikace a dávkování MeSH
- glykosylace MeSH
- kohortové studie MeSH
- kultivované buňky MeSH
- lidé MeSH
- uridindifosfátgalaktosa metabolismus MeSH
- uridindifosfátglukosa metabolismus MeSH
- vrozené poruchy glykosylace farmakoterapie metabolismus patologie MeSH
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- lidé MeSH
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- časopisecké články MeSH
- práce podpořená grantem MeSH
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