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.

PubWeight™: 1.38‹?› | Rank: Top 10%

🔗 View Article (PMC 1914797)

Published in Am J Hum Genet on October 01, 1996

Authors

J Tan1, J Dunn, J Jaeken, H Schachter

Author Affiliations

1: Department of Biochemistry Research, The Hospital for Sick Children, Toronto, Ontario, Canada.

Articles citing this

Metabolism, cell surface organization, and disease. Cell (2009) 2.41

Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A. Am J Hum Genet (1998) 1.66

X-ray crystal structure of rabbit N-acetylglucosaminyltransferase I: catalytic mechanism and a new protein superfamily. EMBO J (2000) 1.56

A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic. Proc Natl Acad Sci U S A (1999) 1.33

Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie. J Clin Invest (2000) 1.33

The congenital disorders of glycosylation: a multifaceted group of syndromes. NeuroRx (2006) 1.33

Carbohydrate-deficient glycoprotein syndrome type V: deficiency of dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase. Proc Natl Acad Sci U S A (1998) 1.24

The joys of HexNAc. The synthesis and function of N- and O-glycan branches. Glycoconj J (2001) 1.23

Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId. J Clin Invest (2002) 1.10

Essential and mutually compensatory roles of {alpha}-mannosidase II and {alpha}-mannosidase IIx in N-glycan processing in vivo in mice. Proc Natl Acad Sci U S A (2006) 1.03

Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1. J Inherit Metab Dis (2000) 1.03

An unfolded protein response is the initial cellular response to the expression of mutant matrilin-3 in a mouse model of multiple epiphyseal dysplasia. Cell Stress Chaperones (2010) 1.03

A novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency in glucosylation of the dolichol-linked oligosaccharide. J Clin Invest (1998) 1.02

"Orphan" retrogenes in the human genome. Mol Biol Evol (2012) 1.00

Caenorhabditis elegans triple null mutant lacking UDP-N-acetyl-D-glucosamine:alpha-3-D-mannoside beta1,2-N-acetylglucosaminyltransferase I. Biochem J (2004) 0.97

Synthesis of paucimannose N-glycans by Caenorhabditis elegans requires prior actions of UDP-N-acetyl-D-glucosamine:alpha-3-D-mannoside beta1,2-N-acetylglucosaminyltransferase I, alpha3,6-mannosidase II and a specific membrane-bound beta-N-acetylglucosaminidase. Biochem J (2003) 0.96

Deficiency of dolichyl-P-Man:Man7GlcNAc2-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation type Ig. Biochem J (2002) 0.93

Approaches to homozygosity mapping and exome sequencing for the identification of novel types of CDG. Glycoconj J (2012) 0.90

Substrate specificities and intracellular distributions of three N-glycan processing enzymes functioning at a key branch point in the insect N-glycosylation pathway. J Biol Chem (2012) 0.88

CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation. Am J Hum Genet (2016) 0.86

Congenital disorders of glycosylation type Ia and IIa are associated with different primary haemostatic complications. J Inherit Metab Dis (2001) 0.85

Tempo and mode of gene duplication in mammalian ribosomal protein evolution. PLoS One (2014) 0.84

Physiologic and pathophysiologic consequences of altered sialylation and glycosylation on ion channel function. Biochem Biophys Res Commun (2014) 0.82

Mouse models for congenital disorders of glycosylation. J Inherit Metab Dis (2011) 0.81

Two closely related forms of UDP-GlcNAc: alpha6-D-mannoside beta1,2-N-acetylglucosaminyltransferase II occur in the clawed frog Xenopus laevis. Glycoconj J (2002) 0.79

Novel multi-dimensional heteronuclear NMR techniques for the study of 13C-O-acetylated oligosaccharides: expanding the dimensions for carbohydrate structures. J Biomol NMR (1999) 0.77

Regulation of expression of the human beta-1,2-N-acetylglucosaminyltransferase II gene (MGAT2) by Ets transcription factors. Biochem J (2000) 0.77

Transcriptional regulation of the human UDP-GlcNAc:alpha-6-D-mannoside beta-1-2-N-acetylglucosaminyltransferase II gene (MGAT2) which controls complex N-glycan synthesis. Glycoconj J (1998) 0.76

Carbohydrate-deficient glycoprotein syndrome type 2. J Inherit Metab Dis (1999) 0.75

Articles cited by this

Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature (1970) 1528.65

DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci U S A (1977) 790.54

Glycosyltransferases. Structure, localization, and control of cell type-specific glycosylation. J Biol Chem (1989) 3.99

Quality control in the secretory pathway. Curr Opin Cell Biol (1995) 3.71

Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I. FEBS Lett (1995) 2.64

Mice lacking N-acetylglucosaminyltransferase I activity die at mid-gestation, revealing an essential role for complex or hybrid N-linked carbohydrates. Proc Natl Acad Sci U S A (1994) 2.21

Biosynthetic controls that determine the branching and microheterogeneity of protein-bound oligosaccharides. Biochem Cell Biol (1986) 2.02

Complex asparagine-linked oligosaccharides are required for morphogenic events during post-implantation development. EMBO J (1994) 1.97

The carbohydrate-deficient glycoprotein syndromes: pre-Golgi and Golgi disorders? Glycobiology (1993) 1.92

Specific interaction between Lex and Lex determinants. A possible basis for cell recognition in preimplantation embryos and in embryonal carcinoma cells. J Biol Chem (1989) 1.88

A multivalent lacto-N-fucopentaose III-lysyllysine conjugate decompacts preimplantation mouse embryos, while the free oligosaccharide is ineffective. J Exp Med (1984) 1.63

Carbohydrate deficient glycoprotein syndrome type II: a deficiency in Golgi localised N-acetyl-glucosaminyltransferase II. Arch Dis Child (1994) 1.60

Carbohydrate-deficient glycoprotein (CDG) syndrome--a new variant, type III. Neuropediatrics (1993) 1.42

The carbohydrate-deficient glycoprotein syndromes: an overview. J Inherit Metab Dis (1993) 1.35

A new variant of the carbohydrate deficient glycoproteins syndrome. J Inherit Metab Dis (1991) 1.31

Carbohydrate-deficient glycoprotein syndrome type II. J Inherit Metab Dis (1993) 1.26

Sugar chains of serum transferrin from patients with carbohydrate deficient glycoprotein syndrome. Evidence of asparagine-N-linked oligosaccharide transfer deficiency. J Biol Chem (1993) 1.24

Structure of serum transferrin in carbohydrate-deficient glycoprotein syndrome. Biochem Biophys Res Commun (1992) 1.23

Carbohydrate-deficient glycoprotein syndrome--a fourth subtype. Neuropediatrics (1995) 1.22

Glycoconjugate expression during embryogenesis and its biological significance. Bioessays (1990) 1.18

Carbohydrate-deficient glycoprotein syndrome: not an N-linked oligosaccharide processing defect, but an abnormality in lipid-linked oligosaccharide biosynthesis? J Clin Invest (1994) 1.11

Carbohydrate-deficient glycoprotein syndromes: peculiar group of new disorders. Pediatr Neurol (1993) 1.10

The human UDP-N-acetylglucosamine: alpha-6-D-mannoside-beta-1,2- N-acetylglucosaminyltransferase II gene (MGAT2). Cloning of genomic DNA, localization to chromosome 14q21, expression in insect cells and purification of the recombinant protein. Eur J Biochem (1995) 1.09

Carbohydrate-deficient glycoprotein syndrome type II. An autosomal recessive N-acetylglucosaminyltransferase II deficiency different from typical hereditary erythroblastic multinuclearity, with a positive acidified-serum lysis test (HEMPAS). Eur J Biochem (1995) 0.90

Normal N-oligosaccharyltransferase activity in fibroblasts from patients with carbohydrate-deficient glycoprotein syndrome. J Inherit Metab Dis (1994) 0.90

Electrospray ionization-mass spectrometric analysis of serum transferrin isoforms in patients with carbohydrate-deficient glycoprotein syndrome. J Biochem (1993) 0.88

Enzymes involved in the synthesis of mannose-6-phosphate from glucose are normal in carbohydrate deficient glycoprotein syndrome fibroblasts. Biochem Biophys Res Commun (1995) 0.86

Major defect of carbohydrate-deficient-glycoprotein syndrome is not found in the synthesis of dolichyl phosphate or N-acetylglucosaminyl-pyrophosphoryl-dolichol. Biochem Biophys Res Commun (1994) 0.82

Articles by these authors

Dystonic reactions in children caused by metoclopramide. Arch Dis Child (1970) 4.80

Intracellular localization of liver sugar nucleotide glycoprotein glycosyltransferases in a Golgi-rich fraction. J Biol Chem (1970) 4.74

Evaluation of matrix-assisted laser desorption ionization-time-of-flight mass spectrometry in comparison to 16S rRNA gene sequencing for species identification of nonfermenting bacteria. J Clin Microbiol (2008) 4.18

Occupation, education, and coronary heart disease. Risk is influenced more by education and background than by occupational experiences, in the Bell System. Science (1968) 4.07

Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I. FEBS Lett (1995) 2.64

The UDP glycosyltransferase gene superfamily: recommended nomenclature update based on evolutionary divergence. Pharmacogenetics (1997) 2.55

Tumorigenicity of the met proto-oncogene and the gene for hepatocyte growth factor. Mol Cell Biol (1992) 2.53

Biosynthesis of glycoprotein by liver. The incorporation in vivo of 14C-glucosamine into protein-bound hexosamine and sialic acid of rat liver subcellular fractions. J Biol Chem (1966) 2.46

Final results of the Royal College of Radiologists' trial comparing two different radiotherapy schedules in the treatment of cerebral metastases. Clin Oncol (R Coll Radiol) (1996) 2.37

Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome). Nat Genet (1997) 2.30

Combined chemotherapy with ABCM versus melphalan for treatment of myelomatosis. The Medical Research Council Working Party for Leukaemia in Adults. Lancet (1992) 2.08

Biosynthetic controls that determine the branching and microheterogeneity of protein-bound oligosaccharides. Biochem Cell Biol (1986) 2.02

Why are children in the same family so different? Nonshared environment a decade later. Can J Psychiatry (2001) 1.98

Complex asparagine-linked oligosaccharides are required for morphogenic events during post-implantation development. EMBO J (1994) 1.97

A cross-language study of prosodic modifications in mothers' and fathers' speech to preverbal infants. J Child Lang (1989) 1.94

Superior mesenteric artery syndrome: an uncommon cause of intestinal obstruction. South Med J (2000) 1.89

Defective interfering particles of poliovirus: mapping of the deletion and evidence that the deletions in the genomes of DI(1), (2) and (3) are located in the same region. J Mol Biol (1979) 1.87

Theory of mind, emotion understanding, language, and family background: individual differences and interrelations. Child Dev (1999) 1.87

Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome. Clin Chim Acta (1984) 1.83

Geomapping of chlamydia and gonorrhoea in Birmingham. Sex Transm Infect (2000) 1.80

Chinese hamster ovary cells selected for resistance to the cytotoxicity of phytohemagglutinin are deficient in a UDP-N-acetylglucosamine--glycoprotein N-acetylglucosaminyltransferase activity. Proc Natl Acad Sci U S A (1975) 1.79

Integrating nature and nurture: implications of person-environment correlations and interactions for developmental psychopathology. Dev Psychopathol (1997) 1.79

Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type. Neurology (2008) 1.78

A structural basis for four distinct elution profiles on concanavalin A--Sepharose affinity chromatography of glycopeptides. Can J Biochem (1979) 1.76

A study of patterns of drinking in patients attending seven general practitioners. Health Bull (Edinb) (1979) 1.76

Control of glycoprotein synthesis. Processing of asparagine-linked oligosaccharides by one or more rat liver Golgi alpha-D-mannosidases dependent on the prior action of UDP-N-acetylglucosamine: alpha-D-mannoside beta 2-N-acetylglucosaminyltransferase I. J Biol Chem (1980) 1.67

Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A. Am J Hum Genet (1998) 1.66

Images of the terminal ileum are more convincing than cecal images for verifying the extent of colonoscopy. Endoscopy (2011) 1.64

Definitions of inflammatory bowel disease of unknown etiology. Gastroenterology (1975) 1.63

Effect of enzyme therapy in juvenile patients with Pompe disease: a three-year open-label study. Neuromuscul Disord (2010) 1.62

An infantile autistic syndrome characterised by the presence of succinylpurines in body fluids. Lancet (1984) 1.61

Carbohydrate deficient glycoprotein syndrome type II: a deficiency in Golgi localised N-acetyl-glucosaminyltransferase II. Arch Dis Child (1994) 1.60

Increased viral titer through concentration of viral harvests from retroviral packaging lines. Hum Gene Ther (1993) 1.58

X-ray crystal structure of rabbit N-acetylglucosaminyltransferase I: catalytic mechanism and a new protein superfamily. EMBO J (2000) 1.56

Trick or treat?: uneven understanding of mind and emotion and executive dysfunction in "hard-to-manage" preschoolers. J Child Psychol Psychiatry (1998) 1.53

Endocrinology of the carbohydrate-deficient glycoprotein syndrome type 1 from birth through adolescence. Pediatr Res (1995) 1.52

Cognitive outcome of patients with classic infantile Pompe disease receiving enzyme therapy. Neurology (2012) 1.52

Vigabatrin in GABA metabolism disorders. Lancet (1989) 1.51

Cigarette smoking and histological outcome in women with mildly dyskaryotic cervical smears. Br J Obstet Gynaecol (1994) 1.50

Inherited disorders of GABA metabolism. J Inherit Metab Dis (1993) 1.50

Low cerebrospinal fluid concentration of free gamma-aminobutyric acid in startle disease. Lancet (1992) 1.49

Environmental tobacco smoke exposure among non-smoking waiters: measurement of expired carbon monoxide levels. Sao Paulo Med J (2000) 1.49

D-penicillamine-induced IgA deficiency in Wilson's disease. Lancet (1976) 1.47

Toxic dilation complicating Crohn's disease of the colon. Gastroenterology (1967) 1.46

Mosaic 13 trisomy due to de novo 13/13 translocation with subsequent fission. Karyotype: 46,XX,-13, +t(13;13)(p11;q11)/46,XX,del(13)(p11). A second example. Ann Genet (1989) 1.46

Health care coverage of high school athletics in South Carolina: does school size make a difference? J S C Med Assoc (1999) 1.45

The supportive care needs of men with prostate cancer (2000). Psychooncology (2001) 1.43

Predictors of change in unmet supportive care needs in cancer. Psychooncology (2010) 1.42

Microheterogeneity of serum glycoproteins and their liver precursors in patients with carbohydrate-deficient glycoprotein syndrome type I: apparent deficiencies in clusterin and serum amyloid P. J Lab Clin Med (1997) 1.42

Modeling human congenital disorder of glycosylation type IIa in the mouse: conservation of asparagine-linked glycan-dependent functions in mammalian physiology and insights into disease pathogenesis. Glycobiology (2001) 1.41

Ethnic minorities and the psychiatric system. Br J Psychiatry (1990) 1.40

Antisocial, angry, and unsympathetic: "hard-to-manage" preschoolers' peer problems and possible cognitive influences. J Child Psychol Psychiatry (2000) 1.40

A man with weight loss, ataxia, and confusion for 3 months. Lancet (1996) 1.39

Ulcerative and "granulomatous" colitis--validity of differential diagnostic criteria. A study of 100 patients treated by total colectomy. Ann Intern Med (1970) 1.38

A novel technique for correction of intestinal atresia at the ligament of Treitz. J Pediatr Surg (2000) 1.38

Carbohydrate deficient serum transferrin in a new systemic hereditary syndrome. Arch Dis Child (1990) 1.38

Understanding mind and emotion: longitudinal associations with mental-state talk between young friends. Dev Psychol (1998) 1.38

All day drinking--its impact on an accident and emergency department. Health Trends (1990) 1.36

The development of dysplasia and adenocarcinoma during endoscopic surveillance of Barrett's esophagus. Am J Gastroenterol (1998) 1.35

Malformative syndrome associated with a ring 10 chromosome and a translocated 10q/19 chromosome. Hum Genet (1978) 1.34

A genome-wide linkage scan for genes controlling variation in urinary albumin excretion in type II diabetes. Kidney Int (2006) 1.34

A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases. J Med Genet (2001) 1.34

Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie. J Clin Invest (2000) 1.33

MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If. J Clin Invest (2001) 1.33

Effect of mutations found in carbohydrate-deficient glycoprotein syndrome type IA on the activity of phosphomannomutase 2. FEBS Lett (1999) 1.31

Isolation, characterization and inactivation of the mouse Mgat3 gene: the bisecting N-acetylglucosamine in asparagine-linked oligosaccharides appears dispensable for viability and reproduction. Glycobiology (1997) 1.31

Xeroderma pigmentosum complementation group G associated with Cockayne syndrome. Am J Hum Genet (1993) 1.31

Control of glycoprotein synthesis. Lectin-resistant mutant containing only one of two distinct N-acetylglucosaminyltransferase activities present in wild type Chinese hamster ovary cells. J Biol Chem (1977) 1.31

A new variant of the carbohydrate deficient glycoproteins syndrome. J Inherit Metab Dis (1991) 1.31

The inhibition of rat liver polyribosome breakdown in the presence of liver supernatant. J Biol Chem (1966) 1.30

A randomized trial of the effect of clodronate on skeletal morbidity in multiple myeloma. MRC Working Party on Leukaemia in Adults. Br J Haematol (1998) 1.30

Qualitative differences in the N-acetyl-D-galactosaminyltransferases produced by human A1 and A2 genes. Proc Natl Acad Sci U S A (1973) 1.29

4-Hydroxybutyric aciduria: application of a fluorometric assay to the determination of succinic semialdehyde dehydrogenase activity in extracts of cultured human lymphoblasts. Clin Chim Acta (1991) 1.29

The transmembrane and flanking sequences of beta 1,2-N-acetylglucosaminyltransferase I specify medial-Golgi localization. J Biol Chem (1992) 1.28

Control of branching during the biosynthesis of asparagine-linked oligosaccharides. Can J Biochem Cell Biol (1983) 1.27

Pork liver guanosine diphosphate-L-fucose glycoprotein fucosyltransferases. J Biol Chem (1971) 1.26

Overexpression of Na+/Ca2+ exchanger alters contractility and SR Ca2+ content in adult rat myocytes. Am J Physiol Heart Circ Physiol (2001) 1.24

Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman. Am J Med Genet A (2008) 1.23

Congenital folate malabsorption. Eur J Pediatr (1985) 1.22

Product-identification and substrate-specificity studies of the GDP-L-fucose:2-acetamido-2-deoxy-beta-D-glucoside (FUC goes to Asn-linked GlcNAc) 6-alpha-L-fucosyltransferase in a Golgi-rich fraction from porcine liver. Carbohydr Res (1982) 1.22

Immunofluorescent study of the replication of infectious pancreatic necrosis virus in trout and Atlantic salmon cell cultures. Infect Immun (1973) 1.22

Infrequent genomic rearrangement and normal expression of the putative RB1 gene in retinoblastoma tumors. Mol Cell Biol (1988) 1.22

Gamma-aminobutyric acid-transaminase deficiency: a newly recognized inborn error of neurotransmitter metabolism. Neuropediatrics (1984) 1.21

Control of glycoprotein synthesis. Purification and characterization of rabbit liver UDP-N-acetylglucosamine:alpha-3-D-mannoside beta-1,2-N-acetylglucosaminyltransferase I. J Biol Chem (1988) 1.21

Control of glycoprotein synthesis. J Biol Chem (1983) 1.21

An apparent homozygous X-linked disorder with carbohydrate-deficient serum glycoproteins. Lancet (1987) 1.21

Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation. Am J Hum Genet (1998) 1.20

Individual differences in young children's pretend play with mother and sibling: links to relationships and understanding of other people's feelings and beliefs. Child Dev (1995) 1.20

Molecular cloning and expression of cDNA encoding the enzyme that controls conversion of high-mannose to hybrid and complex N-glycans: UDP-N-acetylglucosamine: alpha-3-D-mannoside beta-1,2-N-acetylglucosaminyltransferase I. Proc Natl Acad Sci U S A (1991) 1.19

Prenatal diagnosis in CDG1 families: beware of heterogeneity. Eur J Hum Genet (1998) 1.19

Expression of collagenase (MMP2), stromelysin (MMP3) and tissue inhibitor of the metalloproteinases (TIMP1) in pancreatic and ampullary disease. Br J Cancer (1996) 1.16

Identification of hereditary hemorrhagic telangiectasia type 1 in newborns by protein expression and mutation analysis of endoglin. Pediatr Res (2000) 1.16

L-2-hydroxyglutaric acidemia: a novel inherited neurometabolic disease. Ann Neurol (1992) 1.16

Continuities in emotion understanding from three to six years. Child Dev (1996) 1.15

The subcellular sites of glycosylation. Biochem Soc Symp (1974) 1.15

Diminished insulin sensitivity and increased insulin response in nonobese, nondiabetic Mexican Americans. Metabolism (1990) 1.14

Control of glycoprotein synthesis. Bovine colostrum UDP-N-acetylglucosamine:alpha-D-mannoside beta 2-N-acetylglucosaminyltransferase I. Separation from UDP-N-acetylglucosamine:alpha-D-mannoside beta 2-N-acetylglucosaminyltransferase II, partial purification, and substrate specificity. J Biol Chem (1980) 1.14

Intracellular localization of GDP-L-fucose:glycoprotein and CMP-sialic acid: apolipoprotein glycosyltransferases in rat and pork livers. Arch Biochem Biophys (1975) 1.14

Glatiramer acetate after induction therapy with mitoxantrone in relapsing multiple sclerosis. Mult Scler (2008) 1.13