Congenital disorders of glycosylation: glycosylation defects in man and biological models for their study (Q34222279)

31 July 2017

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title

Congenital disorders of glycosylation: glycosylation defects in man and biological models for their study (English)

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ORCID Public Data File 2021

31 July 2017

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author name string

Marquardt T

series ordinal

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31 July 2017

Freeze H

series ordinal

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31 July 2017

publication date

1 February 2001

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31 July 2017

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31 July 2017

volume

382

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31 July 2017

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31 July 2017

page(s)

161-177

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Oral ingestion of mannose elevates blood mannose levels: a first step toward a potential therapy for carbohydrate-deficient glycoprotein syndrome type I.

31 July 2017

cites work

1 reference

https://api.crossref.org/works/10.1515%2FBC.2001.024

Glycosyltransferase activity of Fringe modulates Notch-Delta interactions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FBC.2001.024

A novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency in glucosylation of the dolichol-linked oligosaccharide

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FBC.2001.024

Complex asparagine-linked oligosaccharides in Mgat1-null embryos

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FBC.2001.024

Expression of three Caenorhabditis elegans N-acetylglucosaminyltransferase I genes during development

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FBC.2001.024

Alpha-mannosidase-II deficiency results in dyserythropoiesis and unveils an alternate pathway in oligosaccharide biosynthesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FBC.2001.024

Hypertrophic obstructive cardiomyopathy in a neonate with the carbohydrate‐deficient glycoprotein syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FBC.2001.024

A novel disorder caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FBC.2001.024

Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FBC.2001.024

Mutants of the CMP-sialic acid transporter causing the Lec2 phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FBC.2001.024

Core 2 oligosaccharide biosynthesis distinguishes between selectin ligands essential for leukocyte homing and inflammation

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FBC.2001.024

Brief report: recurrent severe infections caused by a novel leukocyte adhesion deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FBC.2001.024

Human glycosylation disorders and sugar supplement therapy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FBC.2001.024

Rambam-Hasharon syndrome of psychomotor retardation, short stature, defective neutrophil motility, and Bombay phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FBC.2001.024

Defect in glycosylation of erythrocyte membrane proteins in congenital dyserythropoietic anaemia type II (HEMPAS).

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FBC.2001.024

Incomplete synthesis of N-glycans in congenital dyserythropoietic anemia type II caused by a defect in the gene encoding alpha-mannosidase II

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FBC.2001.024

Localization of the Congenital Dyserythropoietic Anemia II Locus to Chromosome 20q11.2 by Genomewide Search

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FBC.2001.024

Suppression of tumor growth and metastasis in Mgat5-deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FBC.2001.024

Immune regulation by the ST6Gal sialyltransferase

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FBC.2001.024

Three proteins involved in Caenorhabditis elegans vulval invagination are similar to components of a glycosylation pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FBC.2001.024

Mice lacking Dad1, the defender against apoptotic death-1, express abnormal N-linked glycoproteins and undergo increased embryonic apoptosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FBC.2001.024

Yeast mutants deficient in protein glycosylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FBC.2001.024

Ricin-resistant mutants of baby-hamster-kidney cells deficient in alpha-mannosidase-II-catalyzed processing of asparagine-linked oligosaccharides

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FBC.2001.024

A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FBC.2001.024

Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FBC.2001.024

Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FBC.2001.024

Mice lacking N-acetylglucosaminyltransferase I activity die at mid-gestation, revealing an essential role for complex or hybrid N-linked carbohydrates

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FBC.2001.024

Essential role for complex N-glycans in forming an organized layer of bronchial epithelium

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FBC.2001.024

Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FBC.2001.024

The carbohydrate-deficient glycoprotein syndromes: an overview

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FBC.2001.024

Carbohydrate deficient glycoprotein syndrome type II: a deficiency in Golgi localised N-acetyl-glucosaminyltransferase II.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FBC.2001.024

Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FBC.2001.024

Structural and functional consequences of an N-glycosylation mutation (HEMPAS) affecting human erythrocyte membrane glycoproteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FBC.2001.024

Leukocyte Adhesion Deficiency Type II is a generalized defect of de novo GDP-fucose biosynthesis. Endothelial cell fucosylation is not required for neutrophil rolling on human nonlymphoid endothelium

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FBC.2001.024

DAD1, the defender against apoptotic cell death, is a subunit of the mammalian oligosaccharyltransferase

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FBC.2001.024

Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie)

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FBC.2001.024

Carbohydrate-deficient glycoprotein syndrome type V: deficiency of dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FBC.2001.024

Carbohydrate deficient glycoprotein syndrome type IV: deficiency of dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FBC.2001.024

Disialotransferrin developmental deficiency syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FBC.2001.024

Targeted mutation in beta1,4-galactosyltransferase leads to pituitary insufficiency and neonatal lethality

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FBC.2001.024

Human dolichol-phosphate-mannose synthase consists of three subunits, DPM1, DPM2 and DPM3

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FBC.2001.024

DPM2 regulates biosynthesis of dolichol phosphate-mannose in mammalian cells: correct subcellular localization and stabilization of DPM1, and binding of dolichol phosphate

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FBC.2001.024

A recessive deletion in the GlcNAc-1-phosphotransferase gene results in peri-implantation embryonic lethality

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FBC.2001.024

Will the transgenic mouse serve as a Rosetta Stone to glycoconjugate function?

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FBC.2001.024

Recent advances in gene mutagenesis by site-directed recombination

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FBC.2001.024

PMM (PMM1), the human homologue of SEC53 or yeast phosphomannomutase, is localized on chromosome 22q13

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FBC.2001.024

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FBC.2001.024

Lack of Homozygotes for the Most Frequent Disease Allele in Carbohydrate-Deficient Glycoprotein Syndrome Type 1A

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FBC.2001.024

Molecular cloning and expression of cDNAs encoding human alpha-mannosidase II and a previously unrecognized alpha-mannosidase IIx isozyme

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FBC.2001.024

Fringe is a glycosyltransferase that modifies Notch

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FBC.2001.024

Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FBC.2001.024

Identification of 23 complementation groups required for post-translational events in the yeast secretory pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FBC.2001.024

Molecular cloning and expression of GDP-D-mannose-4,6-dehydratase, a key enzyme for fucose metabolism defective in Lec13 cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FBC.2001.024

Mannose corrects altered N-glycosylation in carbohydrate-deficient glycoprotein syndrome fibroblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FBC.2001.024

Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG. First International Workshop on CDGS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FBC.2001.024

Early manifestations of the carbohydrate-deficient glycoprotein syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FBC.2001.024

Human Hepatoma Cell Mutant Defective in Cell Surface Protein Trafficking

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FBC.2001.024

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FBC.2001.024

The ST3Gal-I sialyltransferase controls CD8+ T lymphocyte homeostasis by modulating O-glycan biosynthesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FBC.2001.024

Purification, cDNA cloning and heterologous expression of human phosphomannose isomerase

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FBC.2001.024

Glycosylation defect in Lec1 Chinese hamster ovary mutant is due to a point mutation in N-acetylglucosaminyltransferase I gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FBC.2001.024

Nonglucosylated oligosaccharides are transferred to protein in MI8-5 Chinese hamster ovary cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FBC.2001.024

A new variant of the carbohydrate deficient glycoproteins syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FBC.2001.024

Isolation of the ALG6 locus of Saccharomyces cerevisiae required for glucosylation in the N-linked glycosylation pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FBC.2001.024

Two Chinese hamster ovary glycosylation mutants affected in the conversion of GDP-mannose to GDP-fucose

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FBC.2001.024

Mutants in dolichol synthesis: conversion of polyprenol to dolichol appears to be a rate-limiting step in dolichol synthesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FBC.2001.024

Proteoglycans and pattern formation: sugar biochemistry meets developmental genetics

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FBC.2001.024

Function and structure of Drosophila glycans

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FBC.2001.024

Lectin-resistant CHO cells: selection of new mutant phenotypes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FBC.2001.024

Glycosylation mutants of animal cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FBC.2001.024

Carbohydrate deficient serum transferrin in a new systemic hereditary syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FBC.2001.024

A homologue of Saccharomyces cerevisiae Dpm1p is not sufficient for synthesis of dolichol-phosphate-mannose in mammalian cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FBC.2001.024

Expression of Thy-1 glycoprotein on lectin-resistant lymphoma cell lines

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FBC.2001.024

A functional link between N-linked glycosylation and apoptosis in Chinese hamster ovary cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FBC.2001.024

Expression cloning of a novel suppressor of the Lec15 and Lec35 glycosylation mutations of Chinese hamster ovary cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FBC.2001.024

A point mutation causes mistargeting of Golgi GlcNAc-TV in the Lec4A Chinese hamster ovary glycosylation mutant

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FBC.2001.024

Analysis of multiple mutations in the hALG6 gene in a patient with congenital disorder of glycosylation Ic

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FBC.2001.024

Dyserythropoiesis and congenital dyserythropoietic anaemias

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FBC.2001.024

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FBC.2001.024

21 January 2018

Identifiers

DOI

10.1515/BC.2001.024

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31 July 2017

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