Altered glycan structures: the molecular basis of congenital disorders of glycosylation.

[1]  M. Zaffanello,et al.  Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia. , 2005, Glycobiology.

[2]  N. Taniguchi,et al.  Core fucosylation of N-linked glycans in leukocyte adhesion deficiency/congenital disorder of glycosylation IIc fibroblasts. , 2005, Glycobiology.

[3]  V. Lupashin,et al.  Cog1p Plays a Central Role in the Organization of the Yeast Conserved Oligomeric Golgi Complex* , 2005, Journal of Biological Chemistry.

[4]  J. Peter-Katalinic,et al.  Glycoproteomics of N‐glycosylation by in‐gel deglycosylation and matrix‐assisted laser desorption/ionisation‐time of flight mass spectrometry mapping: Application to congenital disorders of glycosylation , 2005, Proteomics.

[5]  M. Lehrman,et al.  Analysis of Glycosylation in CDG-Ia Fibroblasts by Fluorophore-assisted Carbohydrate Electrophoresis , 2005, Journal of Biological Chemistry.

[6]  H. Freeze,et al.  Heparan sulfate depletion amplifies TNF-alpha-induced protein leakage in an in vitro model of protein-losing enteropathy. , 2005, American journal of physiology. Gastrointestinal and liver physiology.

[7]  R. Oriol,et al.  Genetic complementation reveals a novel human congenital disorder of glycosylation of type II, due to inactivation of the Golgi CMP-sialic acid transporter. , 2005, Blood.

[8]  R. Wevers,et al.  Defective protein glycosylation in patients with cutis laxa syndrome , 2005, European Journal of Human Genetics.

[9]  Toshihiko Oka,et al.  Multi-component protein complexes and Golgi membrane trafficking. , 2005, Journal of biochemistry.

[10]  Baruch S Blumberg,et al.  Use of targeted glycoproteomics to identify serum glycoproteins that correlate with liver cancer in woodchucks and humans. , 2005, Proceedings of the National Academy of Sciences of the United States of America.

[11]  A. Helenius,et al.  Roles of N-linked glycans in the endoplasmic reticulum. , 2004, Annual review of biochemistry.

[12]  T. Marquardt.  A COG in the sugar machine , 2004, Nature Medicine.

[13]  O. Bohorov,et al.  Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder , 2004, Nature Medicine.

[14]  R. Contreras,et al.  Noninvasive diagnosis of liver cirrhosis using DNA sequencer–based total serum protein glycomics , 2004, Nature Network Boston.

[15]  J. Jaeken,et al.  CDG IIx with unusual phenotype , 2004, Journal of Inherited Metabolic Disease.

[16]  E. Berger,et al.  Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik. , 2004, Human molecular genetics.

[17]  J. Marth,et al.  A genetic approach to Mammalian glycan function. , 2003, Annual review of biochemistry.

[18]  R. Wevers,et al.  Apolipoprotein C-III isofocusing in the diagnosis of genetic defects in O-glycan biosynthesis. , 2003, Clinical chemistry.

[19]  R. Dwek,et al.  Detailed glycan analysis of serum glycoproteins of patients with congenital disorders of glycosylation indicates the specific defective glycan processing step and provides an insight into pathogenesis. , 2003, Glycobiology.

[20]  H. Freeze,et al.  Deficiency of UDP‐GlcNAc:Dolichol Phosphate N‐Acetylglucosamine‐1 Phosphate Transferase (DPAGT1) Causes a Novel Congenital Disorder of Glycosylation Type Ij , 2003, Human mutation.

[21]  J. Lowe,et al.  Fucose: biosynthesis and biological function in mammals. , 2003, Glycobiology.

[22]  K. von Figura,et al.  A New Type of Congenital Disorders of Glycosylation (CDG-Ii) Provides New Insights into the Early Steps of Dolichol-linked Oligosaccharide Biosynthesis* , 2003, Journal of Biological Chemistry.

[23]  R. Contreras,et al.  Increased fucosylation and reduced branching of serum glycoprotein N-glycans in all known subtypes of congenital disorder of glycosylation I. , 2003, Glycobiology.

[24]  J. Denecke,et al.  Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies , 2003, European Journal of Pediatrics.

[25]  P. Codogno,et al.  A Deficiency in Dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl α3-Glucosyltransferase Defines a New Subtype of Congenital Disorders of Glycosylation* , 2003, The Journal of Biological Chemistry.

[26]  K. Mills,et al.  Mass spectrometric analysis of glycans in elucidating the pathogenesis of CDG type IIx , 2003, Journal of Inherited Metabolic Disease.

[27]  J. Jaeken,et al.  Congenital disorders of glycosylation (CDG): It's all in it! , 2003, Journal of Inherited Metabolic Disease.

[28]  J. Marth,et al.  Mice with a homozygous deletion of the Mgat2 gene encoding UDP-N-acetylglucosamine:alpha-6-D-mannoside beta1,2-N-acetylglucosaminyltransferase II: a model for congenital disorder of glycosylation type IIa. , 2002, Biochimica et biophysica acta.

[29]  R. Cummings,et al.  A unique molecular chaperone Cosmc required for activity of the mammalian core 1 β3-galactosyltransferase , 2002, Proceedings of the National Academy of Sciences of the United States of America.

[30]  F. Hanefeld,et al.  Deficiency of dolichyl-P-Man:Man7GlcNAc2-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation type Ig. , 2002, The Biochemical journal.

[31]  Toshihiko Oka,et al.  Characterization of a mammalian Golgi-localized protein complex, COG, that is required for normal Golgi morphology and function , 2002, The Journal of cell biology.

[32]  E. Berger,et al.  Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId. , 2002, The Journal of clinical investigation.

[33]  H. Freeze.  Update and perspectives on congenital disorders of glycosylation. , 2001, Glycobiology.

[34]  H. Freeze,et al.  A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If). , 2001, The Journal of clinical investigation.

[35]  G. Raymond,et al.  MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If. , 2001, The Journal of clinical investigation.

[36]  David B. Whitehouse,et al.  Congenital disorders of glycosylation type I leads to altered processing of N-linked glycans, as well as underglycosylation. , 2001, The Biochemical journal.

[37]  S. Munro,et al.  The Sec34/35 Golgi transport complex is related to the exocyst, defining a family of complexes involved in multiple steps of membrane traffic. , 2001, Developmental cell.

[38]  Rita Gerardy-Schahn,et al.  The gene defective in leukocyte adhesion deficiency II encodes a putative GDP-fucose transporter , 2001, Nature Genetics.

[39]  Amos Etzioni,et al.  Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency , 2001, Nature Genetics.

[40]  H. R. Bergen,et al.  Rapid determination of transferrin isoforms by immunoaffinity liquid chromatography and electrospray mass spectrometry. , 2001, Clinical chemistry.

[41]  T. Hennet,et al.  Congenital disorders of glycosylation: genetic model systems lead the way. , 2001, Trends in cell biology.

[42]  N. Debili,et al.  Macrothrombocytopenia with abnormal demarcation membranes in megakaryocytes and neutropenia with a complete lack of sialyl-Lewis-X antigen in leukocytes--a new syndrome? , 2001, Blood.

[43]  R. Spiro,et al.  Glucose Residues as Key Determinants in the Biosynthesis and Quality Control of Glycoproteins with N-Linked Oligosaccharides* , 2000, The Journal of Biological Chemistry.

[44]  G. Dacremont,et al.  A novel disorder caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiency. , 2000, American journal of human genetics.

[45]  E. Berger,et al.  Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie. , 2000, The Journal of clinical investigation.

[46]  H. Freeze,et al.  Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie) , 2000, The Journal of clinical investigation.

[47]  U. Stephani,et al.  Carbohydrate deficient glycoprotein syndrome type IV: deficiency of dolichyl‐P‐Man:Man5 GlcNAc2‐PP‐dolichyl mannosyltransferase , 1999, The EMBO journal.

[48]  J. Marth,et al.  A recessive deletion in the GlcNAc-1-phosphotransferase gene results in peri-implantation embryonic lethality. , 1999, Glycobiology.

[49]  E. Berger,et al.  A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic. , 1999, Proceedings of the National Academy of Sciences of the United States of America.

[50]  M. Aebi,et al.  The dolichol pathway of N-linked glycosylation. , 1999, Biochimica et biophysica acta.

[51]  F. Hanefeld,et al.  Carbohydrate-deficient glycoprotein syndrome type V: deficiency of dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase. , 1998, Proceedings of the National Academy of Sciences of the United States of America.

[52]  H. Freeze,et al.  Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy. , 1998, The Journal of clinical investigation.

[53]  G. Matthijs,et al.  Carbohydrate deficient glycoprotein (CDG) syndrome type I. , 1997, Journal of medical genetics.

[54]  J. Jaeken,et al.  Mutations in the MGAT2 gene controlling complex N-glycan synthesis cause carbohydrate-deficient glycoprotein syndrome type II, an autosomal recessive disease with defective brain development. , 1996, American journal of human genetics.

[55]  H. Freeze,et al.  Mannose corrects altered N-glycosylation in carbohydrate-deficient glycoprotein syndrome fibroblasts. , 1996, The Journal of clinical investigation.

[56]  E. Schaftingen,et al.  Phosphomannomutase deficiency is a cause of carbohydrate‐deficient glycoprotein syndrome type I , 1995, FEBS letters.

[57]  P. de Cock,et al.  Carbohydrate deficient glycoprotein syndrome type II: a deficiency in Golgi localised N-acetyl-glucosaminyltransferase II. , 1994, Archives of disease in childhood.

[58]  Ylva Gavel,et al.  Sequence differences between glycosylated and non-glycosylated Asn-X-Thr/Ser acceptor sites: implications for protein engineering , 1990, Protein engineering.

[59]  D. Kingsley,et al.  Three types of low density lipoprotein receptor-deficient mutant have pleiotropic defects in the synthesis of N-linked, O-linked, and lipid- linked carbohydrate chains , 1986, The Journal of cell biology.

[60]  H. G. Eijk,et al.  Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome. , 1984, Clinica chimica acta; international journal of clinical chemistry.

[61]  J. Jaeken,et al.  Familial psychomotor retardation with markedly fluctuating serum prolactin, FSH and GH levels, partial TBG-deficiency, increased serum arylsulphatase A and increased CSF protein: a new syndrome?: 90 , 1980, Pediatric Research.

[62]  P. Stanley.  Glycosylation mutants of animal cells. , 1984, Annual review of genetics.

[63]  Identification and Functional Analysis of a Defect in the Human ALG9 Gene: Definition of Congenital Disorder of Glycosylation Type I L , 2022 .