Related references
Note: Only part of the references are listed.Congenital disorders of glycosylation
Jaak Jaeken
YEAR IN HUMAN AND MEDICAL GENETICS: NEW TRENDS IN MENDELIAN GENETICS (2010)
O-Glycosylation Modulates Proprotein Convertase Activation of Angiopoietin-like Protein 3 POSSIBLE ROLE OF POLYPEPTIDE GalNAc-TRANSFERASE-2 IN REGULATION OF CONCENTRATIONS OF PLASMA LIPIDS
Katrine T. -B. G. Schjoldager et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2010)
Regulation of O-glycosylation through Golgi-to-ER relocation of initiation enzymes
David J. Gill et al.
JOURNAL OF CELL BIOLOGY (2010)
Quantitation of Saccharide Compositions of O-glycans by Mass Spectrometry of Glycopeptides and Its Application to Rheumatoid Arthritis
Yoshinao Wada et al.
JOURNAL OF PROTEOME RESEARCH (2010)
Comparison of Methods for Profiling O-Glycosylation HUMAN PROTEOME ORGANISATION HUMAN DISEASE GLYCOMICS/PROTEOME INITIATIVE MULTI-INSTITUTIONAL STUDY OF IgA1
Yoshinao Wada et al.
MOLECULAR & CELLULAR PROTEOMICS (2010)
Recent insights into the biological roles of mucin-type O-glycosylation
E. Tian et al.
GLYCOCONJUGATE JOURNAL (2009)
Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival
Vishwanathan Hucthagowder et al.
HUMAN MOLECULAR GENETICS (2009)
Dissociation Profile of Protonated Fucosyl Glycopeptides and Quantitation of Fucosylation Levels of Glycoproteins by Mass Spectrometry
Michiko Tajiri et al.
JOURNAL OF PROTEOME RESEARCH (2009)
Deficiencies in subunits of the Conserved Oligomeric Golgi (COG) complex define a novel group of Congenital Disorders of Glycosylation
Renate Zeevaert et al.
MOLECULAR GENETICS AND METABOLISM (2008)
Newly identified loci that influence lipid concentrations and risk of coronary artery disease
Cristen J. Willer et al.
NATURE GENETICS (2008)
Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans
Sekar Kathiresan et al.
NATURE GENETICS (2008)
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2
Uwe Kornak et al.
NATURE GENETICS (2008)
Congenital disorders of glycosylation:: Rapidly enlarging group of (neuro)metabolic disorders
Stephanie Grunewald
EARLY HUMAN DEVELOPMENT (2007)
Congenital disorders of glycosylation: CDG-I, CDG-II, and beyond
Hudson H. Freeze
CURRENT MOLECULAR MEDICINE (2007)
A rapid mass spectrometric strategy for the characterization of N- and O-glycan chains in the diagnosis of defects in glycan biosynthesis
Valegh Faid et al.
PROTEOMICS (2007)
Transferrin and apolipoprotein C-III isofocusing are complementary in the diagnosis of N- and O-glycan biosynthesis defects
Suzan Wopereis et al.
CLINICAL CHEMISTRY (2007)
Congenital disorders of N-glycosylation including diseases associated with O- as well as N-glycosylation defects
Jules G. Leroy
PEDIATRIC RESEARCH (2006)
Genetic defects in the human glycome (vol 7, pg 537, 2006)
Hudson H. Freeze
NATURE REVIEWS GENETICS (2006)
Genetic defects in the human glycome
Hudson H. Freeze
NATURE REVIEWS GENETICS (2006)
Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II
F Foulquier et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2006)
V-ATPase interacts with ARNO and Arf6 in early endosomes and regulates the protein degradative pathway
A Hurtado-Lorenzo et al.
NATURE CELL BIOLOGY (2006)
Distinct expression patterns of different subunit Isoforms of the V-ATPase in the rat epididymis
C Pietrement et al.
BIOLOGY OF REPRODUCTION (2006)
A combined defect in the biosynthesis of N- and O-glycans in patients with cutis laxa and neurological involvement:: the biochemical characteristics
S Wopereis et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2005)
Defective protein glycosylation in patients with cutis laxa syndrome
E Morava et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2005)
Genetic complementation reveals a novel human congenital disorder of glycosylation of type II, due to inactivation of the Golgi CMP-sialic acid transporter
I Martinez-Duncker et al.
BLOOD (2005)
Clinical and biochemical presentation of siblings with COG-7 deficiency, a lethal multiple O- and N-glycosylation disorder
LJM Spaapen et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2005)
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
M Butler et al.
GLYCOBIOLOGY (2003)
Apolipoprotein C-III isofocusing in the diagnosis of genetic defects in O-glycan biosynthesis
S Wopereis et al.
CLINICAL CHEMISTRY (2003)
Leukocyte adhesion deficiency (LAD) type II/carbohydrate deficient glycoprotein (CDG) IIc founder effect and genotype/phenotype correlation
A Etzioni et al.
AMERICAN JOURNAL OF MEDICAL GENETICS (2002)