Clinical glycomics for the diagnosis of congenital disorders of glycosylation

[1]  S. Moorthie.  Congenital disorders , 2018, Oxford Textbook of Global Health of Women, Newborns, Children, and Adolescents.

[2]  G. Matthijs,et al.  Congenital disorders of glycosylation (CDG): Quo vadis? , 2017, European journal of medical genetics.

[3]  A. Heck,et al.  Glycoproteomics: A Balance between High-Throughput and In-Depth Analysis. , 2017, Trends in biotechnology.

[4]  A. Palmigiano,et al.  MALDI-MS profiling of serum O-glycosylation and N-glycosylation in COG5-CDG. , 2017, Journal of mass spectrometry : JMS.

[5]  J. Jaeken,et al.  What is new in CDG? , 2017, Journal of Inherited Metabolic Disease.

[6]  I. Rudan,et al.  The N-glycosylation of immunoglobulin G as a novel biomarker of Parkinson's disease , 2017, Glycobiology.

[7]  M. He,et al.  ORAL D-GALACTOSE SUPPLEMENTATION IN PGM1-CDG , 2017, Genetics in Medicine.

[8]  B. Engelen,et al.  PGM1 deficiency: Substrate use during exercise and effect of treatment with galactose , 2017, Neuromuscular Disorders.

[9]  Gert Jan van der Wilt,et al.  A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology , 2017, Genetics in Medicine.

[10]  A. Hoischen,et al.  Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa. , 2017, American Journal of Human Genetics.

[11]  Christian Gilissen,et al.  ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation , 2016, Nature Communications.

[12]  Dian Donnai,et al.  NANS-mediated synthesis of sialic acid is required for brain and skeletal development , 2016, Nature Genetics.

[13]  Y. Wada.  Mass spectrometry of transferrin and apolipoprotein C-III for diagnosis and screening of congenital disorder of glycosylation , 2016, Glycoconjugate Journal.

[14]  A. Hoischen,et al.  CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation. , 2016, American journal of human genetics.

[15]  A. Hoischen,et al.  TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation. , 2016, American journal of human genetics.

[16]  L. R. Ruhaak,et al.  Serum Glycans as Risk Markers for Non–Small Cell Lung Cancer , 2016, Cancer Prevention Research.

[17]  A. Messina,et al.  CSF N-glycoproteomics for early diagnosis in Alzheimer's disease. , 2016, Journal of proteomics.

[18]  D. Lefeber,et al.  Clinical diagnostics and therapy monitoring in the congenital disorders of glycosylation , 2016, Glycoconjugate Journal.

[19]  Y. Wada,et al.  SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation. , 2015, American journal of human genetics.

[20]  R. Wevers,et al.  High-resolution mass spectrometry glycoprofiling of intact transferrin for diagnosis and subtype identification in the congenital disorders of glycosylation. , 2015, Translational research : the journal of laboratory and clinical medicine.

[21]  U. Reichl,et al.  Site-specific O-Glycosylation Analysis of Human Blood Plasma Proteins* , 2015, Molecular & Cellular Proteomics.

[22]  William S Hancock,et al.  In-depth N-glycome profiling of paired colorectal cancer and non-tumorigenic tissues reveals cancer-, stage- and EGFR-specific protein N-glycosylation. , 2015, Glycobiology.

[23]  Y. Wada,et al.  A new case of UDP-galactose transporter deficiency (SLC35A2-CDG): molecular basis, clinical phenotype, and therapeutic approach , 2015, Journal of Inherited Metabolic Disease.

[24]  L. Lee,et al.  Comprehensive N-glycome profiling of cultured human epithelial breast cells identifies unique secretome N-glycosylation signatures enabling tumorigenic subtype classification. , 2014, Journal of proteome research.

[25]  Nicolle H Packer,et al.  Advances in LC-MS/MS-based glycoproteomics: getting closer to system-wide site-specific mapping of the N- and O-glycoproteome. , 2014, Biochimica et biophysica acta.

[26]  N. Leymarie,et al.  Confident Assignment of Site-Specific Glycosylation in Complex Glycoproteins in a Single Step , 2014, Journal of proteome research.

[27]  Ankita Patel,et al.  PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia. , 2014, American journal of human genetics.

[28]  André M Deelder,et al.  High-throughput profiling of protein N-glycosylation by MALDI-TOF-MS employing linkage-specific sialic acid esterification. , 2014, Analytical chemistry.

[29]  D. Andreu,et al.  Mammalian protein glycosylation--structure versus function. , 2014, The Analyst.

[30]  E. Solary,et al.  Cohen syndrome is associated with major glycosylation defects. , 2014, Human molecular genetics.

[31]  M. Hegde,et al.  Glycosylation, hypogammaglobulinemia, and resistance to viral infections. , 2014, The New England journal of medicine.

[32]  A. Hoischen,et al.  Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency. , 2014, Brain : a journal of neurology.

[33]  M. Bamshad,et al.  Solving glycosylation disorders: fundamental approaches reveal complicated pathways. , 2014, American journal of human genetics.

[34]  Y. Wada,et al.  Multiple phenotypes in phosphoglucomutase 1 deficiency. , 2014, The New England journal of medicine.

[35]  N. Packer,et al.  Comparative N-glycan profiling of colorectal cancer cell lines reveals unique bisecting GlcNAc and α-2,3-linked sialic acid determinants are associated with membrane proteins of the more metastatic/aggressive cell lines. , 2014, Journal of proteome research.

[36]  G. Matthijs,et al.  MAN1B1 Deficiency: An Unexpected CDG-II , 2013, PLoS genetics.

[37]  B. Xia,et al.  Serum N-glycan and O-glycan analysis by mass spectrometry for diagnosis of congenital disorders of glycosylation. , 2013, Analytical biochemistry.

[38]  Yu-Chieh Wang,et al.  Protein post-translational modifications and regulation of pluripotency in human stem cells , 2013, Cell Research.

[39]  D. Chan,et al.  Translation of proteomic biomarkers into FDA approved cancer diagnostics: issues and challenges , 2013, Clinical Proteomics.

[40]  L. Sturiale,et al.  Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis , 2013, Journal of Medical Genetics.

[41]  R. Wevers,et al.  Intellectual disability and bleeding diathesis due to deficient CMP–sialic acid transport , 2013, Neurology.

[42]  C. Lebrilla,et al.  Isomer-specific chromatographic profiling yields highly sensitive and specific potential N-glycan biomarkers for epithelial ovarian cancer. , 2013, Journal of chromatography. A.

[43]  L. Vissers,et al.  A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype , 2012, European Journal of Human Genetics.

[44]  F. Chollet,et al.  [Early diagnosis of Alzheimer's disease]. , 2012, Revue neurologique.

[45]  T. Hennet.  Diseases of glycosylation beyond classical congenital disorders of glycosylation. , 2012, Biochimica et biophysica acta.

[46]  Machiko Kadoya,et al.  Mass spectrometry of apolipoprotein C-III, a simple analytical method for mucin-type O-glycosylation and its application to an autosomal recessive cutis laxa type-2 (ARCL2) patient. , 2012, Glycobiology.

[47]  H. Freeze,et al.  TMEM165 deficiency causes a congenital disorder of glycosylation. , 2012, American journal of human genetics.

[48]  Kelley W. Moremen,et al.  Vertebrate protein glycosylation: diversity, synthesis and function , 2012, Nature Reviews Molecular Cell Biology.

[49]  Christian Gilissen,et al.  Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing. , 2012, Human molecular genetics.

[50]  E. Morava,et al.  How to find and diagnose a CDG due to defective N-glycosylation , 2011, Journal of Inherited Metabolic Disease.

[51]  R. Wevers,et al.  Plasma N-glycan profiling by mass spectrometry for congenital disorders of glycosylation type II. , 2011, Clinical chemistry.

[52]  J. Jaeken.  Congenital disorders of glycosylation (CDG): it’s (nearly) all in it! , 2011, Journal of Inherited Metabolic Disease.

[53]  L. Sturiale,et al.  The impact of mass spectrometry in the diagnosis of congenital disorders of glycosylation , 2011, Journal of Inherited Metabolic Disease.

[54]  Wanjin Hong,et al.  Identification of the first COG-CDG patient of Indian origin. , 2011, Molecular genetics and metabolism.

[55]  Martin Pabst,et al.  Glycan analysis by modern instrumental methods , 2011, Proteomics.

[56]  Wolfgang Lindner,et al.  Comparison of hydrophilic-interaction, reversed-phase and porous graphitic carbon chromatography for glycan analysis. , 2011, Journal of chromatography. A.

[57]  Y. Mechref,et al.  Analysis of Site-specific Glycosylation of Renal and Hepatic γ-Glutamyl Transpeptidase from Normal Human Tissue* , 2010, The Journal of Biological Chemistry.

[58]  Florian Gnad,et al.  Precision Mapping of an In Vivo N-Glycoproteome Reveals Rigid Topological and Sequence Constraints , 2010, Cell.

[59]  L. R. Ruhaak,et al.  Glycan labeling strategies and their use in identification and quantification , 2010, Analytical and bioanalytical chemistry.

[60]  M. Huizing,et al.  Clinical features, lectin staining, and a novel GNE frameshift mutation in hereditary inclusion body myopathy. , 2010, Clinical neuropathology.

[61]  Matthias Baumgartner,et al.  Deficiency in COG5 causes a moderate form of congenital disorders of glycosylation. , 2009, Human molecular genetics.

[62]  Richard D. Cummings,et al.  The repertoire of glycan determinants in the human glycome. , 2009, Molecular bioSystems.

[63]  Gert Matthijs,et al.  CDG nomenclature: time for a change! , 2009, Biochimica et biophysica acta.

[64]  R. Wevers,et al.  Automated measurement of permethylated serum N-glycans by MALDI-linear ion trap mass spectrometry. , 2009, Carbohydrate research.

[65]  W. Annaert,et al.  Golgi function and dysfunction in the first COG4-deficient CDG type II patient , 2009, Human molecular genetics.

[66]  J. Banoub,et al.  Mass Spectrometry, Review of the Basics: Electrospray, MALDI, and Commonly Used Mass Analyzers , 2009 .

[67]  D. Harvey,et al.  Derivatization of sialic acids for stabilization in matrix-assisted laser desorption/ionization mass spectrometry and concomitant differentiation of alpha(2 --> 3)- and alpha(2 --> 6)-isomers. , 2009, Rapid communications in mass spectrometry : RCM.

[68]  Martin Pabst,et al.  Comparison of fluorescent labels for oligosaccharides and introduction of a new postlabeling purification method. , 2009, Analytical biochemistry.

[69]  Martin Pabst,et al.  Influence of electrosorption, solvent, temperature, and ion polarity on the performance of LC-ESI-MS using graphitic carbon for acidic oligosaccharides. , 2008, Analytical chemistry.

[70]  Yehia Mechref,et al.  High-throughput solid-phase permethylation of glycans prior to mass spectrometry. , 2008, Rapid communications in mass spectrometry : RCM.

[71]  F. Chirat,et al.  A rapid mass spectrometric strategy for the characterization of N‐ and O‐glycan chains in the diagnosis of defects in glycan biosynthesis , 2007, Proteomics.

[72]  G. Matthijs,et al.  A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia , 2007, European Journal of Human Genetics.

[73]  K. Lam,et al.  Glycomics analysis of serum: a potential new biomarker for ovarian cancer? , 2007, International Journal of Gynecologic Cancer.

[74]  H. Freeze,et al.  COG8 deficiency causes new congenital disorder of glycosylation type IIh. , 2007, Human molecular genetics.

[75]  M. Krieger,et al.  A new inborn error of glycosylation due to a Cog8 deficiency reveals a critical role for the Cog1-Cog8 interaction in COG complex formation. , 2007, Human molecular genetics.

[76]  T. Therneau,et al.  The utility of Lens culinaris agglutinin-reactive alpha-fetoprotein in the diagnosis of hepatocellular carcinoma: evaluation in a United States referral population. , 2007, Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association.

[77]  R. Wevers,et al.  Transferrin and apolipoprotein C-III isofocusing are complementary in the diagnosis of N- and O-glycan biosynthesis defects. , 2007, Clinical chemistry.

[78]  Ron A Wevers,et al.  Mechanisms in protein O-glycan biosynthesis and clinical and molecular aspects of protein O-glycan biosynthesis defects: a review. , 2006, Clinical chemistry.

[79]  N. Callewaert,et al.  Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II. , 2006, Proceedings of the National Academy of Sciences of the United States of America.

[80]  R. Wevers,et al.  Clinical and biochemical presentation of siblings with COG-7 deficiency, a lethal multiple O- and N-glycosylation disorder , 2005, Journal of Inherited Metabolic Disease.

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

[82]  M. Tajiri,et al.  Hydrophilic affinity isolation and MALDI multiple-stage tandem mass spectrometry of glycopeptides for glycoproteomics. , 2004, Analytical chemistry.

[83]  A. Deelder,et al.  Normal-phase nanoscale liquid chromatography-mass spectrometry of underivatized oligosaccharides at low-femtomole sensitivity. , 2004, Analytical chemistry.

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

[85]  M. Lehrman,et al.  Analyses of dolichol pyrophosphate-linked oligosaccharides in cell cultures and tissues by fluorophore-assisted carbohydrate electrophoresis. , 2002, Glycobiology.

[86]  Y. Ikeda,et al.  UDP-GlcNAc concentration is an important factor in the biosynthesis of beta1,6-branched oligosaccharides: regulation based on the kinetic properties of N-acetylglucosaminyltransferase V. , 2002, Glycobiology.

[87]  S. Satomura,et al.  AFP-L3: a new generation of tumor marker for hepatocellular carcinoma. , 2001, Clinica chimica acta; international journal of clinical chemistry.

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

[89]  Y. Wada,et al.  Structure of serum transferrin in carbohydrate-deficient glycoprotein syndrome. , 1992, Biochemical and biophysical research communications.

[90]  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.

[91]  Ionel Ciucanu,et al.  A simple and rapid method for the permethylation of carbohydrates , 1984 .

[92]  B. Xia,et al.  A Novel N-Tetrasaccharide in Patients with Congenital Disorders of Glycosylation, Including Asparagine-Linked Glycosylation Protein 1, Phosphomannomutase 2, and Mannose Phosphate Isomerase Deficiencies. , 2016, Clinical chemistry.

[93]  D. Lefeber.  Protein-Specific Glycoprofiling for Patient Diagnostics. , 2016, Clinical chemistry.

[94]  H. Souayah,et al.  Deficiency of Subunit 6 of the Conserved Oligomeric Golgi Complex (COG6-CDG): Second Patient, Different Phenotype. , 2012, JIMD reports.

[95]  M. Baumgartner,et al.  Deficiency in COG 5 causes a moderate form of congenital disorders of glycosylation , 2009 .

[96]  Gert Matthijs,et al.  Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2 , 2008, Nature Genetics.

[97]  Gert Matthijs,et al.  Deficiencies in subunits of the Conserved Oligomeric Golgi (COG) complex define a novel group of Congenital Disorders of Glycosylation. , 2008, Molecular genetics and metabolism.

[98]  G. Matthijs,et al.  A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia , 2007, European Journal of Human Genetics.

[99]  Y. Wada,et al.  Electrospray ionization mass spectra of hemoglobin and transferrin by a magnetic sector mass spectrometer. Comparison with theoretical isotopic distributions. , 1992, Rapid communications in mass spectrometry : RCM.