Glycans Instructing Immunity: The Emerging Role of Altered Glycosylation in Clinical Immunology

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

Paroxysmal nocturnal hemoglobinuria

(2014) R. A. Brodsky   BLOOD

Inherited biallelic CSF3R mutations in severe congenital neutropenia

(2014) A. Triot et al.   BLOOD

Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment

(2014) Yu Zhang et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels

(2014) Atfa Sassi et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

O-GlcNAc and the Epigenetic Regulation of Gene Expression

(2014) Brian A. Lewis et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

ER-associated degradation: Protein quality control and beyond

(2014) Annamaria Ruggiano et al.   JOURNAL OF CELL BIOLOGY

Jagunal homolog 1 is a critical regulator of neutrophil function in fungal host defense

(2014) Gerald Wirnsberger et al.   NATURE GENETICS

JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia

(2014) Kaan Boztug et al.   NATURE GENETICS

N-glycosylation bidirectionally extends the boundaries of thymocyte positive selection by decoupling Lck from Ca2+ signaling

(2014) Raymond W Zhou et al.   NATURE IMMUNOLOGY

Emerging functions of the unfolded protein response in immunity

(2014) Sophie Janssens et al.   NATURE IMMUNOLOGY

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

Partial IFN- R2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation

(2013) M. Moncada-Velez et al.   BLOOD

Endothelial heterogeneity and adhesion molecules N-glycosylation: Implications in leukocyte trafficking in inflammation

(2013) D. W. Scott et al.   GLYCOBIOLOGY

Engineering a Monomeric Fc Domain Modality byN-Glycosylation for the Half-life Extension of Biotherapeutics

(2013) Tetsuya Ishino et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome

(2013) Daniel Kotlarz et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Adaptive immune activation: glycosylation does matter

(2013) Margreet A Wolfert et al.   Nature Chemical Biology

G6PC3 mutations are associated with a major defect of glycosylation: a novel mechanism for neutrophil dysfunction

(2011) B. Hayee et al.   GLYCOBIOLOGY

Extended Spectrum of Human Glucose-6-Phosphatase Catalytic Subunit 3 Deficiency: Novel Genotypes and Phenotypic Variability in Severe Congenital Neutropenia

(2011) Kaan Boztug et al.   JOURNAL OF PEDIATRICS

Intravenous gammaglobulin suppresses inflammation through a novel TH2 pathway

(2011) Robert M. Anthony et al.   NATURE

Genetics and the environment converge to dysregulate N-glycosylation in multiple sclerosis

(2011) Haik Mkhikian et al.   Nature Communications

Mutations in the G6PC3 gene cause Dursun syndrome

(2010) Siddharth Banka et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Inhibitors of Endoplasmic Reticulum α-Glucosidases Potently Suppress Hepatitis C Virus Virion Assembly and Release

(2010) Xiaowang Qu et al.   ANTIMICROBIAL AGENTS AND CHEMOTHERAPY

Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis

(2010) D. H. McDermott et al.   BLOOD

Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3

(2010) Siddharth Banka et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Leukocyte Adhesion Deficiency Type II: Long-Term Follow-Up and Review of the Literature

(2010) Yael Gazit et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations

(2010) T. Dupre et al.   JOURNAL OF MEDICAL GENETICS

CDG nomenclature: Time for a change!

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

The clinical spectrum of phosphomannomutase 2 deficiency (CDG-Ia)

(2009) Stephanie Grünewald   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Neutropenia in type Ib glycogen storage disease

(2009) Janice Y Chou et al.   CURRENT OPINION IN HEMATOLOGY

Glycosylation in immune cell trafficking

(2009) Markus Sperandio et al.   IMMUNOLOGICAL REVIEWS

Congenital disorders of glycosylation in hepatology: The example of polycystic liver disease

(2009) Manoe J. Janssen et al.   JOURNAL OF HEPATOLOGY

A Syndrome with Congenital Neutropenia and Mutations inG6PC3

(2009) Kaan Boztug et al.   NEW ENGLAND JOURNAL OF MEDICINE

Endogenous galectin-1 enforces class I-restricted TCR functional fate decisions in thymocytes

(2008) S. D. Liu et al.   BLOOD

Familial pulmonary arterial hypertension, leucopenia, and atrial septal defect: a probable new familial syndrome with multisystem involvement

(2008) Ali Dursun et al.   CLINICAL DYSMORPHOLOGY

Protein-glycan interactions in the control of innate and adaptive immune responses

(2008) Yvette van Kooyk et al.   NATURE IMMUNOLOGY