ArticleProceedings of the National Academy of Sciences of the United States of America2005
Notch deficiency implicated in the pathogenesis of congenital disorder of glycosylation IIc.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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27 citing papers in PubMed, 60 citations in OpenAlex.
- Review
- In vivo evidence for GDP-fucose transport in the absence of transporter SLC35C1 and putative transporter SLC35C2.The Journal of biological chemistry · 2023Article
- Olfactory Sensory Neurons Control Dendritic Complexity of Mitral Cells via Notch Signaling.PLoS genetics · 2016Article
- N-glycoprotein macroheterogeneity: biological implications and proteomic characterization.Glycoconjugate journal · 2016Review
- Modeling congenital disease and inborn errors of development in Drosophila melanogaster.Disease models & mechanisms · 2016Review
- Phenotype-based clustering of glycosylation-related genes by RNAi-mediated gene silencing.Genes to cells : devoted to molecular & cellular mechanisms · 2015Article
- Dynamic regulation of innate immune responses in Drosophila by Senju-mediated glycosylation.Proceedings of the National Academy of Sciences of the United States of America · 2015Article
- O-fucose monosaccharide of Drosophila Notch has a temperature-sensitive function and cooperates with O-glucose glycan in Notch transport and Notch signaling activation.The Journal of biological chemistry · 2015Article
- In silico analysis of the fucosylation-associated genome of the human blood fluke Schistosoma mansoni: cloning and characterization of the enzymes involved in GDP-L-fucose synthesis and Golgi import.Parasites & vectors · 2013Article
- The N's and O's of Drosophila glycoprotein glycobiology.Glycoconjugate journal · 2013Review
- Article
- Therapies and therapeutic approaches in Congenital Disorders of Glycosylation.Glycoconjugate journal · 2013Review
- Rescue of Notch signaling in cells incapable of GDP-L-fucose synthesis by gap junction transfer of GDP-L-fucose in Drosophila.Proceedings of the National Academy of Sciences of the United States of America · 2012Article
- The Drosophila neurally altered carbohydrate mutant has a defective Golgi GDP-fucose transporter.The Journal of biological chemistry · 2012Article
- Human deficiencies of fucosylation and sialylation affecting selectin ligands.Seminars in immunopathology · 2012Review
- Metabolic labeling of fucosylated glycans in developing zebrafish.ACS chemical biology · 2011Article
- Identification of genes required for neural-specific glycosylation using functional genomics.PLoS genetics · 2010Article
- Slc35c2 promotes Notch1 fucosylation and is required for optimal Notch signaling in mammalian cells.The Journal of biological chemistry · 2010Article
- Article
- Neural and synaptic defects in slytherin, a zebrafish model for human congenital disorders of glycosylation.PloS one · 2010Article
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital disorder of glycosylation IIc (CDG IIc), also termed leukocyte adhesion deficiency II, is a recessive syndrome characterized by slowed growth, mental retardation, and severe immunodeficiency. Recently, the gene responsible for CDG IIc was found to encode a GDP-fucose transporter. Here, we investigated the possible cause of the developmental defects in CDG IIc patients by using a Drosophila model. Biochemically, we demonstrated that a Drosophila homolog of the GDP-fucose transporter, the Golgi GDP-fucose transporter (Gfr), specifically transports GDP-fucose in vitro. To understand the function of the Gfr gene, we generated null mutants of Gfr in Drosophila. The phenotypes of the Drosophila Gfr mutants were rescued by the human GDP-fucose transporter transgene. Our phenotype analyses revealed that Notch (N) signaling was deficient in these Gfr mutants. GDP-fucose is known to be essential for the fucosylation of N-linked glycans and for O-fucosylation, and both fucose modifications are present on N. Our results suggest that Gfr is involved in the fucosylation of N-linked glycans on N and its O-fucosylation, as well as those of bulk proteins. However, despite the essential role of N O-fucosylation during development, the Gfr homozygote was viable. Thus, our results also indicate that the Drosophila genome encodes at least another GDP-fucose transporter that is involved in the O-fucosylation of N. Finally, we found that mammalian Gfr is required for N signaling in mammalian cultured cells. Therefore, our results implicate reduced N signaling in the pathology of CDG IIc.
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