Clinical glycomics for the diagnosis of congenital disorders of glycosylation

Congenital disorders of glycosylation (CDG): Quo vadis?

(2017) Romain Péanne et al.   European Journal of Medical Genetics

Oral D-galactose supplementation in PGM1-CDG

(2017) Sunnie Yan-Wai Wong et al.   GENETICS IN MEDICINE

A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology

(2017) Lisenka E.L.M. Vissers et al.   GENETICS IN MEDICINE

The N-glycosylation of immunoglobulin G as a novel biomarker of Parkinson's disease

(2017) Alyce C Russell et al.   GLYCOBIOLOGY

What is new in CDG?

(2017) Jaak Jaeken et al.   JOURNAL OF INHERITED METABOLIC DISEASE

MALDI-MS profiling of serum O -glycosylation and N -glycosylation in COG5-CDG

(2017) A. Palmigiano et al.   JOURNAL OF MASS SPECTROMETRY

PGM1 deficiency: Substrate use during exercise and effect of treatment with galactose

(2017) N.C. Voermans et al.   NEUROMUSCULAR DISORDERS

Glycoproteomics: A Balance between High-Throughput and In-Depth Analysis

(2017) Yang Yang et al.   TRENDS IN BIOTECHNOLOGY

TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation

(2016) Jos C. Jansen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation

(2016) Jos C. Jansen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Serum Glycans as Risk Markers for Non–Small Cell Lung Cancer

(2016) L. Renee Ruhaak et al.   Cancer Prevention Research

Mass spectrometry of transferrin and apolipoprotein C-III for diagnosis and screening of congenital disorder of glycosylation

(2016) Yoshinao Wada   GLYCOCONJUGATE JOURNAL

Clinical diagnostics and therapy monitoring in the congenital disorders of glycosylation

(2016) Monique Van Scherpenzeel et al.   GLYCOCONJUGATE JOURNAL

CSF N-glycoproteomics for early diagnosis in Alzheimer's disease

(2016) Angelo Palmigiano et al.   Journal of Proteomics

NANS-mediated synthesis of sialic acid is required for brain and skeletal development

(2016) Clara D M van Karnebeek et al.   NATURE GENETICS

ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation

(2016) Eric J. R. Jansen et al.   Nature Communications

SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation

(2015) Julien H. Park et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Protein-Specific Glycoprofiling for Patient Diagnostics

(2015) D. J. Lefeber   CLINICAL CHEMISTRY

A Novel N-Tetrasaccharide in Patients with Congenital Disorders of Glycosylation, Including Asparagine-Linked Glycosylation Protein 1, Phosphomannomutase 2, and Mannose Phosphate Isomerase Deficiencies

(2015) W. Zhang et al.   CLINICAL CHEMISTRY

In-depthN-glycome profiling of paired colorectal cancer and non-tumorigenic tissues reveals cancer-, stage- and EGFR-specific protein N-glycosylation

(2015) Manveen K Sethi et al.   GLYCOBIOLOGY

A new case of UDP-galactose transporter deficiency (SLC35A2-CDG): molecular basis, clinical phenotype, and therapeutic approach

(2015) K. Dörre et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Site-specificO-Glycosylation Analysis of Human Blood Plasma Proteins

(2015) Marcus Hoffmann et al.   MOLECULAR & CELLULAR PROTEOMICS

High-resolution mass spectrometry glycoprofiling of intact transferrin for diagnosis and subtype identification in the congenital disorders of glycosylation

(2015) Monique van Scherpenzeel et al.   Translational Research

PGM3 Mutations Cause a Congenital Disorder of Glycosylation with Severe Immunodeficiency and Skeletal Dysplasia

(2014) Asbjørg Stray-Pedersen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Solving Glycosylation Disorders: Fundamental Approaches Reveal Complicated Pathways

(2014) Hudson H. Freeze et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mammalian protein glycosylation – structure versus function

(2014) S. Defaus et al.   ANALYST

High-Throughput Profiling of Protein N-Glycosylation by MALDI-TOF-MS Employing Linkage-Specific Sialic Acid Esterification

(2014) Karli R. Reiding et al.   ANALYTICAL CHEMISTRY

Advances in LC–MS/MS-based glycoproteomics: Getting closer to system-wide site-specific mapping of the N- and O-glycoproteome

(2014) Morten Thaysen-Andersen et al.   BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS

Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency

(2014) Monique Van Scherpenzeel et al.   BRAIN

Confident Assignment of Site-Specific Glycosylation in Complex Glycoproteins in a Single Step

(2014) Kshitij Khatri et al.   JOURNAL OF PROTEOME RESEARCH

Comprehensive N-Glycome Profiling of Cultured Human Epithelial Breast Cells Identifies Unique Secretome N-Glycosylation Signatures Enabling Tumorigenic Subtype Classification

(2014) Ling Y. Lee et al.   JOURNAL OF PROTEOME RESEARCH

Glycosylation, Hypogammaglobulinemia, and Resistance to Viral Infections

(2014) Mohammed A. Sadat et al.   NEW ENGLAND JOURNAL OF MEDICINE

Multiple Phenotypes in Phosphoglucomutase 1 Deficiency

(2014) Laura C. Tegtmeyer et al.   NEW ENGLAND JOURNAL OF MEDICINE

Serum N-glycan and O-glycan analysis by mass spectrometry for diagnosis of congenital disorders of glycosylation

(2013) Baoyun Xia et al.   ANALYTICAL BIOCHEMISTRY

Protein post-translational modifications and regulation of pluripotency in human stem cells

(2013) Yu-Chieh Wang et al.   CELL RESEARCH

Cohen syndrome is associated with major glycosylation defects

(2013) Laurence Duplomb et al.   HUMAN MOLECULAR GENETICS

Isomer-specific chromatographic profiling yields highly sensitive and specific potential N-glycan biomarkers for epithelial ovarian cancer

(2013) Serenus Hua et al.   JOURNAL OF CHROMATOGRAPHY A

Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis

(2013) Simon Edvardson et al.   JOURNAL OF MEDICAL GENETICS

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

(2013) Manveen K. Sethi et al.   JOURNAL OF PROTEOME RESEARCH

Intellectual disability and bleeding diathesis due to deficient CMP-sialic acid transport

(2013) M. Mohamed et al.   NEUROLOGY

MAN1B1 Deficiency: An Unexpected CDG-II

(2013) Daisy Rymen et al.   PLoS Genetics

TMEM165 Deficiency Causes a Congenital Disorder of Glycosylation

(2012) François Foulquier et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Diseases of glycosylation beyond classical congenital disorders of glycosylation

(2012) Thierry Hennet   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS

A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype

(2012) Zafar Iqbal et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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) Yoshinao Wada et al.   GLYCOBIOLOGY

Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing

(2012) Sharita Timal et al.   HUMAN MOLECULAR GENETICS

Vertebrate protein glycosylation: diversity, synthesis and function

(2012) Kelley W. Moremen et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Plasma N-Glycan Profiling by Mass Spectrometry for Congenital Disorders of Glycosylation Type II

(2011) M. Guillard et al.   CLINICAL CHEMISTRY

Congenital disorders of glycosylation (CDG): it’s (nearly) all in it!

(2011) Jaak Jaeken   JOURNAL OF INHERITED METABOLIC DISEASE

How to find and diagnose a CDG due to defective N-glycosylation

(2011) Dirk J. Lefeber et al.   JOURNAL OF INHERITED METABOLIC DISEASE

The impact of mass spectrometry in the diagnosis of congenital disorders of glycosylation

(2011) Luisa Sturiale et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Glycan labeling strategies and their use in identification and quantification

(2010) L. R. Ruhaak et al.   ANALYTICAL AND BIOANALYTICAL CHEMISTRY

Precision Mapping of an In Vivo N-Glycoproteome Reveals Rigid Topological and Sequence Constraints

(2010) Dorota F. Zielinska et al.   CELL

Analysis of Site-specific Glycosylation of Renal and Hepatic γ-Glutamyl Transpeptidase from Normal Human Tissue

(2010) Matthew B. West et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Comparison of hydrophilic-interaction, reversed-phase and porous graphitic carbon chromatography for glycan analysis

(2010) Michael Melmer et al.   JOURNAL OF CHROMATOGRAPHY A

Identification of the first COG–CDG patient of Indian origin

(2010) Bobby G. Ng et al.   MOLECULAR GENETICS AND METABOLISM

Glycan analysis by modern instrumental methods

(2010) Martin Pabst et al.   PROTEOMICS

Mass Spectrometry, Review of the Basics: Electrospray, MALDI, and Commonly Used Mass Analyzers

(2009) Anas El-Aneed et al.   APPLIED SPECTROSCOPY REVIEWS

CDG nomenclature: Time for a change!

(2009) Jaak Jaeken et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Automated measurement of permethylated serum N-glycans by MALDI–linear ion trap mass spectrometry

(2009) Maïlys Guillard et al.   CARBOHYDRATE RESEARCH

Deficiency in COG5 causes a moderate form of congenital disorders of glycosylation

(2009) P. Paesold-Burda et al.   HUMAN MOLECULAR GENETICS

Golgi function and dysfunction in the first COG4-deficient CDG type II patient

(2009) Ellen Reynders et al.   HUMAN MOLECULAR GENETICS

The repertoire of glycan determinants in the human glycome

(2009) Richard D. Cummings   Molecular BioSystems

Comparison of fluorescent labels for oligosaccharides and introduction of a new postlabeling purification method

(2008) Martin Pabst et al.   ANALYTICAL BIOCHEMISTRY

Influence of Electrosorption, Solvent, Temperature, and Ion Polarity on the Performance of LC-ESI-MS Using Graphitic Carbon for Acidic Oligosaccharides

(2008) Martin Pabst et al.   ANALYTICAL CHEMISTRY

High-throughput solid-phase permethylation of glycans prior to mass spectrometry

(2008) Pilsoo Kang et al.   RAPID COMMUNICATIONS IN MASS SPECTROMETRY

Derivatization of sialic acids for stabilization in matrix-assisted laser desorption/ionization mass spectrometry and concomitant differentiation ofα(2 → 3)- andα(2 → 6)-isomers

(2008) Susan F. Wheeler et al.   RAPID COMMUNICATIONS IN MASS SPECTROMETRY

Glycomics analysis of serum: a potential new biomarker for ovarian cancer?

(2007) G.S. LEISEROWITZ et al.   INTERNATIONAL JOURNAL OF GYNECOLOGICAL CANCER

Deficiencies in subunits of the Conserved Oligomeric Golgi (COG) complex define a novel group of Congenital Disorders of Glycosylation

(2007) Renate Zeevaert et al.   MOLECULAR GENETICS AND METABOLISM