PubMed:16037488 JSONTXT

{"project":"Glycan-Motif","denotations":[{"id":"T1","span":{"begin":150,"end":159},"obj":"https://glytoucan.org/Structures/Glycans/G65889KE"},{"id":"T2","span":{"begin":150,"end":159},"obj":"https://glytoucan.org/Structures/Glycans/G68158BT"},{"id":"T3","span":{"begin":294,"end":303},"obj":"https://glytoucan.org/Structures/Glycans/G65889KE"},{"id":"T4","span":{"begin":294,"end":303},"obj":"https://glytoucan.org/Structures/Glycans/G68158BT"}],"text":"Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia.\nUntreated classic galactosemia (galactose-1-phosphate uridyltransferase [GALT] deficiency) is known as a secondary congenital disorders of glycosylation (CDG) characterized by galactose deficiency of glycoproteins and glycolipids (processing defect or CDG-II). The mechanism of this undergalactosylation has not been established. Here we show that in untreated galactosemia, there is also a partial deficiency of whole glycans of serum transferrin associated with increased fucosylation and branching as seen in genetic glycosylation assembly defects (CDG-I). Thus galactosemia seems to be a secondary \"dual\" CDG causing a processing as well as an assembly N-glycosylation defect. We also demonstrated that in galactosemia patients, transferrin N-glycan biosynthesis is restored upon dietary treatment."}

{"project":"GlyCosmos6-Glycan-Motif-Image","denotations":[{"id":"T1","span":{"begin":150,"end":159},"obj":"Glycan_Motif"},{"id":"T3","span":{"begin":294,"end":303},"obj":"Glycan_Motif"}],"attributes":[{"id":"A1","pred":"image","subj":"T1","obj":"https://api.glycosmos.org/wurcs2image/0.10.0/png/binary/G68158BT"},{"id":"A2","pred":"image","subj":"T1","obj":"https://api.glycosmos.org/wurcs2image/0.10.0/png/binary/G65889KE"},{"id":"A3","pred":"image","subj":"T3","obj":"https://api.glycosmos.org/wurcs2image/0.10.0/png/binary/G68158BT"},{"id":"A4","pred":"image","subj":"T3","obj":"https://api.glycosmos.org/wurcs2image/0.10.0/png/binary/G65889KE"}],"text":"Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia.\nUntreated classic galactosemia (galactose-1-phosphate uridyltransferase [GALT] deficiency) is known as a secondary congenital disorders of glycosylation (CDG) characterized by galactose deficiency of glycoproteins and glycolipids (processing defect or CDG-II). The mechanism of this undergalactosylation has not been established. Here we show that in untreated galactosemia, there is also a partial deficiency of whole glycans of serum transferrin associated with increased fucosylation and branching as seen in genetic glycosylation assembly defects (CDG-I). Thus galactosemia seems to be a secondary \"dual\" CDG causing a processing as well as an assembly N-glycosylation defect. We also demonstrated that in galactosemia patients, transferrin N-glycan biosynthesis is restored upon dietary treatment."}

{"project":"GlyCosmos6-Glycan-Motif-Structure","denotations":[{"id":"T1","span":{"begin":150,"end":159},"obj":"https://glytoucan.org/Structures/Glycans/G65889KE"},{"id":"T2","span":{"begin":150,"end":159},"obj":"https://glytoucan.org/Structures/Glycans/G68158BT"},{"id":"T3","span":{"begin":294,"end":303},"obj":"https://glytoucan.org/Structures/Glycans/G65889KE"},{"id":"T4","span":{"begin":294,"end":303},"obj":"https://glytoucan.org/Structures/Glycans/G68158BT"}],"text":"Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia.\nUntreated classic galactosemia (galactose-1-phosphate uridyltransferase [GALT] deficiency) is known as a secondary congenital disorders of glycosylation (CDG) characterized by galactose deficiency of glycoproteins and glycolipids (processing defect or CDG-II). The mechanism of this undergalactosylation has not been established. Here we show that in untreated galactosemia, there is also a partial deficiency of whole glycans of serum transferrin associated with increased fucosylation and branching as seen in genetic glycosylation assembly defects (CDG-I). Thus galactosemia seems to be a secondary \"dual\" CDG causing a processing as well as an assembly N-glycosylation defect. We also demonstrated that in galactosemia patients, transferrin N-glycan biosynthesis is restored upon dietary treatment."}

{"project":"GlycoBiology-GDGDB","denotations":[{"id":"_T1","span":{"begin":233,"end":270},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00360"},{"id":"_T2","span":{"begin":233,"end":270},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00343"},{"id":"_T3","span":{"begin":233,"end":270},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00344"},{"id":"_T4","span":{"begin":233,"end":270},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00345"},{"id":"_T5","span":{"begin":233,"end":270},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00346"},{"id":"_T6","span":{"begin":233,"end":270},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00347"},{"id":"_T7","span":{"begin":233,"end":270},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00348"},{"id":"_T8","span":{"begin":233,"end":270},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00349"},{"id":"_T9","span":{"begin":233,"end":270},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00350"},{"id":"_T10","span":{"begin":233,"end":270},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00351"},{"id":"_T11","span":{"begin":233,"end":270},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00352"},{"id":"_T12","span":{"begin":233,"end":270},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00353"},{"id":"_T13","span":{"begin":233,"end":270},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00354"},{"id":"_T14","span":{"begin":233,"end":270},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00355"},{"id":"_T15","span":{"begin":233,"end":270},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00356"},{"id":"_T16","span":{"begin":233,"end":270},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00620"},{"id":"_T17","span":{"begin":233,"end":270},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00627"},{"id":"_T18","span":{"begin":233,"end":270},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00622"},{"id":"_T19","span":{"begin":233,"end":270},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00623"},{"id":"_T20","span":{"begin":233,"end":270},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00624"},{"id":"_T21","span":{"begin":233,"end":270},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00625"},{"id":"_T22","span":{"begin":233,"end":270},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00358"},{"id":"_T23","span":{"begin":233,"end":270},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00359"},{"id":"_T24","span":{"begin":233,"end":270},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00361"},{"id":"_T25","span":{"begin":233,"end":270},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00362"},{"id":"_T26","span":{"begin":233,"end":270},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00363"},{"id":"_T27","span":{"begin":233,"end":270},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00364"},{"id":"_T28","span":{"begin":233,"end":270},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00365"},{"id":"_T29","span":{"begin":233,"end":270},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00367"},{"id":"_T30","span":{"begin":233,"end":270},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00626"},{"id":"_T31","span":{"begin":233,"end":270},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00621"},{"id":"_T32","span":{"begin":370,"end":376},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00351"},{"id":"_T33","span":{"begin":670,"end":675},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00351"}],"text":"Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia.\nUntreated classic galactosemia (galactose-1-phosphate uridyltransferase [GALT] deficiency) is known as a secondary congenital disorders of glycosylation (CDG) characterized by galactose deficiency of glycoproteins and glycolipids (processing defect or CDG-II). The mechanism of this undergalactosylation has not been established. Here we show that in untreated galactosemia, there is also a partial deficiency of whole glycans of serum transferrin associated with increased fucosylation and branching as seen in genetic glycosylation assembly defects (CDG-I). Thus galactosemia seems to be a secondary \"dual\" CDG causing a processing as well as an assembly N-glycosylation defect. We also demonstrated that in galactosemia patients, transferrin N-glycan biosynthesis is restored upon dietary treatment."}

{"project":"uniprot-human","denotations":[{"id":"T1","span":{"begin":69,"end":80},"obj":"http://www.uniprot.org/uniprot/P02787"},{"id":"T2","span":{"begin":554,"end":565},"obj":"http://www.uniprot.org/uniprot/P02787"},{"id":"T3","span":{"begin":851,"end":862},"obj":"http://www.uniprot.org/uniprot/P02787"},{"id":"T4","span":{"begin":191,"end":195},"obj":"http://www.uniprot.org/uniprot/Q53XK1"}],"text":"Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia.\nUntreated classic galactosemia (galactose-1-phosphate uridyltransferase [GALT] deficiency) is known as a secondary congenital disorders of glycosylation (CDG) characterized by galactose deficiency of glycoproteins and glycolipids (processing defect or CDG-II). The mechanism of this undergalactosylation has not been established. Here we show that in untreated galactosemia, there is also a partial deficiency of whole glycans of serum transferrin associated with increased fucosylation and branching as seen in genetic glycosylation assembly defects (CDG-I). Thus galactosemia seems to be a secondary \"dual\" CDG causing a processing as well as an assembly N-glycosylation defect. We also demonstrated that in galactosemia patients, transferrin N-glycan biosynthesis is restored upon dietary treatment."}

{"project":"uniprot-mouse","denotations":[{"id":"T1","span":{"begin":69,"end":80},"obj":"http://www.uniprot.org/uniprot/Q63915"},{"id":"T2","span":{"begin":554,"end":565},"obj":"http://www.uniprot.org/uniprot/Q63915"},{"id":"T3","span":{"begin":851,"end":862},"obj":"http://www.uniprot.org/uniprot/Q63915"}],"text":"Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia.\nUntreated classic galactosemia (galactose-1-phosphate uridyltransferase [GALT] deficiency) is known as a secondary congenital disorders of glycosylation (CDG) characterized by galactose deficiency of glycoproteins and glycolipids (processing defect or CDG-II). The mechanism of this undergalactosylation has not been established. Here we show that in untreated galactosemia, there is also a partial deficiency of whole glycans of serum transferrin associated with increased fucosylation and branching as seen in genetic glycosylation assembly defects (CDG-I). Thus galactosemia seems to be a secondary \"dual\" CDG causing a processing as well as an assembly N-glycosylation defect. We also demonstrated that in galactosemia patients, transferrin N-glycan biosynthesis is restored upon dietary treatment."}

{"project":"GlycoBiology-NCBITAXON","denotations":[{"id":"T1","span":{"begin":383,"end":392},"obj":"http://purl.bioontology.org/ontology/NCBITAXON/127244"}],"text":"Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia.\nUntreated classic galactosemia (galactose-1-phosphate uridyltransferase [GALT] deficiency) is known as a secondary congenital disorders of glycosylation (CDG) characterized by galactose deficiency of glycoproteins and glycolipids (processing defect or CDG-II). The mechanism of this undergalactosylation has not been established. Here we show that in untreated galactosemia, there is also a partial deficiency of whole glycans of serum transferrin associated with increased fucosylation and branching as seen in genetic glycosylation assembly defects (CDG-I). Thus galactosemia seems to be a secondary \"dual\" CDG causing a processing as well as an assembly N-glycosylation defect. We also demonstrated that in galactosemia patients, transferrin N-glycan biosynthesis is restored upon dietary treatment."}

{"project":"GO-BP","denotations":[{"id":"T1","span":{"begin":33,"end":45},"obj":"http://purl.obolibrary.org/obo/GO_0036065"},{"id":"T2","span":{"begin":592,"end":604},"obj":"http://purl.obolibrary.org/obo/GO_0036065"},{"id":"T3","span":{"begin":257,"end":270},"obj":"http://purl.obolibrary.org/obo/GO_0070085"},{"id":"T4","span":{"begin":638,"end":651},"obj":"http://purl.obolibrary.org/obo/GO_0070085"},{"id":"T5","span":{"begin":777,"end":790},"obj":"http://purl.obolibrary.org/obo/GO_0070085"},{"id":"T6","span":{"begin":863,"end":884},"obj":"http://purl.obolibrary.org/obo/GO_0006487"},{"id":"T7","span":{"begin":865,"end":884},"obj":"http://purl.obolibrary.org/obo/GO_0000271"},{"id":"T8","span":{"begin":872,"end":884},"obj":"http://purl.obolibrary.org/obo/GO_0009058"}],"text":"Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia.\nUntreated classic galactosemia (galactose-1-phosphate uridyltransferase [GALT] deficiency) is known as a secondary congenital disorders of glycosylation (CDG) characterized by galactose deficiency of glycoproteins and glycolipids (processing defect or CDG-II). The mechanism of this undergalactosylation has not been established. Here we show that in untreated galactosemia, there is also a partial deficiency of whole glycans of serum transferrin associated with increased fucosylation and branching as seen in genetic glycosylation assembly defects (CDG-I). Thus galactosemia seems to be a secondary \"dual\" CDG causing a processing as well as an assembly N-glycosylation defect. We also demonstrated that in galactosemia patients, transferrin N-glycan biosynthesis is restored upon dietary treatment."}

{"project":"UBERON-AE","denotations":[{"id":"T1","span":{"begin":63,"end":68},"obj":"http://purl.obolibrary.org/obo/UBERON_0001977"},{"id":"T2","span":{"begin":548,"end":553},"obj":"http://purl.obolibrary.org/obo/UBERON_0001977"}],"text":"Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia.\nUntreated classic galactosemia (galactose-1-phosphate uridyltransferase [GALT] deficiency) is known as a secondary congenital disorders of glycosylation (CDG) characterized by galactose deficiency of glycoproteins and glycolipids (processing defect or CDG-II). The mechanism of this undergalactosylation has not been established. Here we show that in untreated galactosemia, there is also a partial deficiency of whole glycans of serum transferrin associated with increased fucosylation and branching as seen in genetic glycosylation assembly defects (CDG-I). Thus galactosemia seems to be a secondary \"dual\" CDG causing a processing as well as an assembly N-glycosylation defect. We also demonstrated that in galactosemia patients, transferrin N-glycan biosynthesis is restored upon dietary treatment."}

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"16037488-1#252#258#gene7045","span":{"begin":370,"end":376},"obj":"gene7045"},{"id":"16037488-1#10#30#diseaseC0268151","span":{"begin":128,"end":148},"obj":"diseaseC0268151"},{"id":"16037488-1#73#89#diseaseC0268151","span":{"begin":191,"end":207},"obj":"diseaseC0268151"},{"id":"16037488-1#115#152#diseaseC0282577","span":{"begin":233,"end":270},"obj":"diseaseC0282577"},{"id":"16037488-1#154#157#diseaseC0282577","span":{"begin":272,"end":275},"obj":"diseaseC0282577"}],"relations":[{"id":"252#258#gene704510#30#diseaseC0268151","pred":"associated_with","subj":"16037488-1#252#258#gene7045","obj":"16037488-1#10#30#diseaseC0268151"},{"id":"252#258#gene704573#89#diseaseC0268151","pred":"associated_with","subj":"16037488-1#252#258#gene7045","obj":"16037488-1#73#89#diseaseC0268151"},{"id":"252#258#gene7045115#152#diseaseC0282577","pred":"associated_with","subj":"16037488-1#252#258#gene7045","obj":"16037488-1#115#152#diseaseC0282577"},{"id":"252#258#gene7045154#157#diseaseC0282577","pred":"associated_with","subj":"16037488-1#252#258#gene7045","obj":"16037488-1#154#157#diseaseC0282577"}],"text":"Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia.\nUntreated classic galactosemia (galactose-1-phosphate uridyltransferase [GALT] deficiency) is known as a secondary congenital disorders of glycosylation (CDG) characterized by galactose deficiency of glycoproteins and glycolipids (processing defect or CDG-II). The mechanism of this undergalactosylation has not been established. Here we show that in untreated galactosemia, there is also a partial deficiency of whole glycans of serum transferrin associated with increased fucosylation and branching as seen in genetic glycosylation assembly defects (CDG-I). Thus galactosemia seems to be a secondary \"dual\" CDG causing a processing as well as an assembly N-glycosylation defect. We also demonstrated that in galactosemia patients, transferrin N-glycan biosynthesis is restored upon dietary treatment."}

{"project":"sentences","denotations":[{"id":"TextSentencer_T1","span":{"begin":0,"end":117},"obj":"Sentence"},{"id":"TextSentencer_T2","span":{"begin":118,"end":378},"obj":"Sentence"},{"id":"TextSentencer_T3","span":{"begin":379,"end":447},"obj":"Sentence"},{"id":"TextSentencer_T4","span":{"begin":448,"end":677},"obj":"Sentence"},{"id":"TextSentencer_T5","span":{"begin":678,"end":798},"obj":"Sentence"},{"id":"TextSentencer_T6","span":{"begin":799,"end":920},"obj":"Sentence"},{"id":"T1","span":{"begin":0,"end":117},"obj":"Sentence"},{"id":"T2","span":{"begin":118,"end":378},"obj":"Sentence"},{"id":"T3","span":{"begin":379,"end":447},"obj":"Sentence"},{"id":"T4","span":{"begin":448,"end":677},"obj":"Sentence"},{"id":"T5","span":{"begin":678,"end":798},"obj":"Sentence"},{"id":"T6","span":{"begin":799,"end":920},"obj":"Sentence"},{"id":"T1","span":{"begin":0,"end":117},"obj":"Sentence"},{"id":"T2","span":{"begin":118,"end":378},"obj":"Sentence"},{"id":"T3","span":{"begin":379,"end":447},"obj":"Sentence"},{"id":"T4","span":{"begin":448,"end":677},"obj":"Sentence"},{"id":"T5","span":{"begin":678,"end":798},"obj":"Sentence"},{"id":"T6","span":{"begin":799,"end":920},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia.\nUntreated classic galactosemia (galactose-1-phosphate uridyltransferase [GALT] deficiency) is known as a secondary congenital disorders of glycosylation (CDG) characterized by galactose deficiency of glycoproteins and glycolipids (processing defect or CDG-II). The mechanism of this undergalactosylation has not been established. Here we show that in untreated galactosemia, there is also a partial deficiency of whole glycans of serum transferrin associated with increased fucosylation and branching as seen in genetic glycosylation assembly defects (CDG-I). Thus galactosemia seems to be a secondary \"dual\" CDG causing a processing as well as an assembly N-glycosylation defect. We also demonstrated that in galactosemia patients, transferrin N-glycan biosynthesis is restored upon dietary treatment."}

{"project":"GlycoBiology-Motifs","denotations":[{"id":"T1","span":{"begin":81,"end":90},"obj":"http://rdf.glycoinfo.org/glycan/G00027MO"},{"id":"T2","span":{"begin":863,"end":871},"obj":"http://rdf.glycoinfo.org/glycan/G00027MO"}],"text":"Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia.\nUntreated classic galactosemia (galactose-1-phosphate uridyltransferase [GALT] deficiency) is known as a secondary congenital disorders of glycosylation (CDG) characterized by galactose deficiency of glycoproteins and glycolipids (processing defect or CDG-II). The mechanism of this undergalactosylation has not been established. Here we show that in untreated galactosemia, there is also a partial deficiency of whole glycans of serum transferrin associated with increased fucosylation and branching as seen in genetic glycosylation assembly defects (CDG-I). Thus galactosemia seems to be a secondary \"dual\" CDG causing a processing as well as an assembly N-glycosylation defect. We also demonstrated that in galactosemia patients, transferrin N-glycan biosynthesis is restored upon dietary treatment."}

{"project":"performance-test","denotations":[{"id":"PD-UBERON-AE-B_T1","span":{"begin":63,"end":68},"obj":"http://purl.obolibrary.org/obo/UBERON_0001977"},{"id":"PD-UBERON-AE-B_T2","span":{"begin":548,"end":553},"obj":"http://purl.obolibrary.org/obo/UBERON_0001977"}],"text":"Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia.\nUntreated classic galactosemia (galactose-1-phosphate uridyltransferase [GALT] deficiency) is known as a secondary congenital disorders of glycosylation (CDG) characterized by galactose deficiency of glycoproteins and glycolipids (processing defect or CDG-II). The mechanism of this undergalactosylation has not been established. Here we show that in untreated galactosemia, there is also a partial deficiency of whole glycans of serum transferrin associated with increased fucosylation and branching as seen in genetic glycosylation assembly defects (CDG-I). Thus galactosemia seems to be a secondary \"dual\" CDG causing a processing as well as an assembly N-glycosylation defect. We also demonstrated that in galactosemia patients, transferrin N-glycan biosynthesis is restored upon dietary treatment."}

{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":370,"end":376},"obj":"gene:7045"},{"id":"T1","span":{"begin":128,"end":148},"obj":"disease:C0268151"},{"id":"T2","span":{"begin":370,"end":376},"obj":"gene:7045"},{"id":"T3","span":{"begin":191,"end":207},"obj":"disease:C0268151"},{"id":"T4","span":{"begin":370,"end":376},"obj":"gene:7045"},{"id":"T5","span":{"begin":233,"end":270},"obj":"disease:C0282577"},{"id":"T6","span":{"begin":370,"end":376},"obj":"gene:7045"},{"id":"T7","span":{"begin":272,"end":275},"obj":"disease:C0282577"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"},{"id":"R2","pred":"associated_with","subj":"T2","obj":"T3"},{"id":"R3","pred":"associated_with","subj":"T4","obj":"T5"},{"id":"R4","pred":"associated_with","subj":"T6","obj":"T7"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia.\nUntreated classic galactosemia (galactose-1-phosphate uridyltransferase [GALT] deficiency) is known as a secondary congenital disorders of glycosylation (CDG) characterized by galactose deficiency of glycoproteins and glycolipids (processing defect or CDG-II). The mechanism of this undergalactosylation has not been established. Here we show that in untreated galactosemia, there is also a partial deficiency of whole glycans of serum transferrin associated with increased fucosylation and branching as seen in genetic glycosylation assembly defects (CDG-I). Thus galactosemia seems to be a secondary \"dual\" CDG causing a processing as well as an assembly N-glycosylation defect. We also demonstrated that in galactosemia patients, transferrin N-glycan biosynthesis is restored upon dietary treatment."}

{"project":"HP-phenotype","denotations":[{"id":"T1","span":{"begin":104,"end":116},"obj":"Phenotype"},{"id":"T2","span":{"begin":136,"end":148},"obj":"Phenotype"},{"id":"T3","span":{"begin":479,"end":491},"obj":"Phenotype"},{"id":"T4","span":{"begin":683,"end":695},"obj":"Phenotype"},{"id":"T5","span":{"begin":828,"end":840},"obj":"Phenotype"}],"attributes":[{"id":"A1","pred":"hp_id","subj":"T1","obj":"HP:0012024"},{"id":"A2","pred":"hp_id","subj":"T2","obj":"HP:0012024"},{"id":"A3","pred":"hp_id","subj":"T3","obj":"HP:0012024"},{"id":"A4","pred":"hp_id","subj":"T4","obj":"HP:0012024"},{"id":"A5","pred":"hp_id","subj":"T5","obj":"HP:0012024"}],"namespaces":[{"prefix":"HP","uri":"http://purl.obolibrary.org/obo/HP_"}],"text":"Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia.\nUntreated classic galactosemia (galactose-1-phosphate uridyltransferase [GALT] deficiency) is known as a secondary congenital disorders of glycosylation (CDG) characterized by galactose deficiency of glycoproteins and glycolipids (processing defect or CDG-II). The mechanism of this undergalactosylation has not been established. Here we show that in untreated galactosemia, there is also a partial deficiency of whole glycans of serum transferrin associated with increased fucosylation and branching as seen in genetic glycosylation assembly defects (CDG-I). Thus galactosemia seems to be a secondary \"dual\" CDG causing a processing as well as an assembly N-glycosylation defect. We also demonstrated that in galactosemia patients, transferrin N-glycan biosynthesis is restored upon dietary treatment."}

{"project":"mondo_disease","denotations":[{"id":"T1","span":{"begin":104,"end":116},"obj":"Disease"},{"id":"T3","span":{"begin":128,"end":148},"obj":"Disease"},{"id":"T4","span":{"begin":191,"end":207},"obj":"Disease"},{"id":"T5","span":{"begin":233,"end":270},"obj":"Disease"},{"id":"T6","span":{"begin":272,"end":275},"obj":"Disease"},{"id":"T7","span":{"begin":370,"end":376},"obj":"Disease"},{"id":"T8","span":{"begin":370,"end":373},"obj":"Disease"},{"id":"T9","span":{"begin":479,"end":491},"obj":"Disease"},{"id":"T11","span":{"begin":670,"end":673},"obj":"Disease"},{"id":"T12","span":{"begin":683,"end":695},"obj":"Disease"},{"id":"T14","span":{"begin":727,"end":730},"obj":"Disease"},{"id":"T15","span":{"begin":828,"end":840},"obj":"Disease"}],"attributes":[{"id":"A1","pred":"mondo_id","subj":"T1","obj":"http://purl.obolibrary.org/obo/MONDO_0009258"},{"id":"A2","pred":"mondo_id","subj":"T1","obj":"http://purl.obolibrary.org/obo/MONDO_0018116"},{"id":"A3","pred":"mondo_id","subj":"T3","obj":"http://purl.obolibrary.org/obo/MONDO_0009258"},{"id":"A4","pred":"mondo_id","subj":"T4","obj":"http://purl.obolibrary.org/obo/MONDO_0009258"},{"id":"A5","pred":"mondo_id","subj":"T5","obj":"http://purl.obolibrary.org/obo/MONDO_0015286"},{"id":"A6","pred":"mondo_id","subj":"T6","obj":"http://purl.obolibrary.org/obo/MONDO_0015286"},{"id":"A7","pred":"mondo_id","subj":"T7","obj":"http://purl.obolibrary.org/obo/MONDO_0011933"},{"id":"A8","pred":"mondo_id","subj":"T8","obj":"http://purl.obolibrary.org/obo/MONDO_0015286"},{"id":"A9","pred":"mondo_id","subj":"T9","obj":"http://purl.obolibrary.org/obo/MONDO_0009258"},{"id":"A10","pred":"mondo_id","subj":"T9","obj":"http://purl.obolibrary.org/obo/MONDO_0018116"},{"id":"A11","pred":"mondo_id","subj":"T11","obj":"http://purl.obolibrary.org/obo/MONDO_0015286"},{"id":"A12","pred":"mondo_id","subj":"T12","obj":"http://purl.obolibrary.org/obo/MONDO_0009258"},{"id":"A13","pred":"mondo_id","subj":"T12","obj":"http://purl.obolibrary.org/obo/MONDO_0018116"},{"id":"A14","pred":"mondo_id","subj":"T14","obj":"http://purl.obolibrary.org/obo/MONDO_0015286"},{"id":"A15","pred":"mondo_id","subj":"T15","obj":"http://purl.obolibrary.org/obo/MONDO_0009258"},{"id":"A16","pred":"mondo_id","subj":"T15","obj":"http://purl.obolibrary.org/obo/MONDO_0018116"}],"text":"Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia.\nUntreated classic galactosemia (galactose-1-phosphate uridyltransferase [GALT] deficiency) is known as a secondary congenital disorders of glycosylation (CDG) characterized by galactose deficiency of glycoproteins and glycolipids (processing defect or CDG-II). The mechanism of this undergalactosylation has not been established. Here we show that in untreated galactosemia, there is also a partial deficiency of whole glycans of serum transferrin associated with increased fucosylation and branching as seen in genetic glycosylation assembly defects (CDG-I). Thus galactosemia seems to be a secondary \"dual\" CDG causing a processing as well as an assembly N-glycosylation defect. We also demonstrated that in galactosemia patients, transferrin N-glycan biosynthesis is restored upon dietary treatment."}

{"project":"Anatomy-UBERON","denotations":[{"id":"T1","span":{"begin":191,"end":195},"obj":"Body_part"}],"attributes":[{"id":"A1","pred":"uberon_id","subj":"T1","obj":"http://purl.obolibrary.org/obo/UBERON_0001962"}],"text":"Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia.\nUntreated classic galactosemia (galactose-1-phosphate uridyltransferase [GALT] deficiency) is known as a secondary congenital disorders of glycosylation (CDG) characterized by galactose deficiency of glycoproteins and glycolipids (processing defect or CDG-II). The mechanism of this undergalactosylation has not been established. Here we show that in untreated galactosemia, there is also a partial deficiency of whole glycans of serum transferrin associated with increased fucosylation and branching as seen in genetic glycosylation assembly defects (CDG-I). Thus galactosemia seems to be a secondary \"dual\" CDG causing a processing as well as an assembly N-glycosylation defect. We also demonstrated that in galactosemia patients, transferrin N-glycan biosynthesis is restored upon dietary treatment."}