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Genetic defects in the human glycome

author

Hudson H. Freeze

published in: Nature Reviews Genetics

date of publication: 2006-06-06

Cites articles 109

Date

Title

Authors

2006-02-23

Mechanisms in protein O-glycan biosynthesis and clinical and molecular aspects of protein O-glycan biosynthesis defects: a review

Ron A. Wevers
2006-05

COG-7-deficient Human Fibroblasts Exhibit Altered Recycling of Golgi Proteins
2006-01-10

Retrograde transport on the COG railway

Daniel Ungar
2006-02

COG complex-mediated recycling of Golgi glycosyltransferases is essential for normal protein glycosylation
2006-02-28

Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II.

D Quelhas, François Foulquier, Nico Callewaert, Philippa B Mills
2006-02-01

Cryptogenic liver disease in four children: a novel congenital disorder of glycosylation

Hudson H. Freeze, Pietro Vajro
2006-01-24

Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha / beta -subunits precursor gene
2006-02-03

A genetic model for muscle-eye-brain disease in mice lacking protein O-mannose 1,2-N-acetylglucosaminyltransferase (POMGnT1)

Sherry L Ball, Vance P. Lemmon, Henry J Kaminski
2006-02

Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations

Eugenio Mercuri, Martin Brockington, Francesco Muntoni, Angela Berardinelli, Haluk Topaloglu, Anna Pichiecchio, Enzo Ricci, Filippo Maria Santorelli
2006-01-01

Human Disease Glycomics/Proteome Initiative Workshop and the 4th HUPO Annual Congress
2006-04-01

The congenital disorders of glycosylation: a multifaceted group of syndromes

Hudson H. Freeze
2005-11-01

Glycomics: an integrated systems approach to structure-function relationships of glycans

Ram Sasisekharan, Rahul Raman
2005-12-13

The molecular basis of coupling of translocation and N-glycosylation
2005-11-29

An evolving view of the eukaryotic oligosaccharyltransferase
2005-01-01

Congenital disorder of glycosylation type Ia in a 6-year-old girl with a mild intellectual phenotype: two novel PMM2 mutations

David J Coman
2005-08

Congenital disorder of glycosylation type Id: clinical phenotype, molecular analysis, prenatal diagnosis, and glycosylation of fetal proteins
2005-01-01

Clinical and biochemical presentation of siblings with COG-7 deficiency, a lethal multiple O- and N-glycosylation disorder.

Jaap A. Bakker, Ron A. Wevers
2005-09-23

Genetic analysis of the subunit organization and function of the conserved oligomeric golgi (COG) complex: studies of COG5- and COG7-deficient mammalian cells
2005-12-14

The conserved oligomeric Golgi complex acts in organ morphogenesis via glycosylation of an ADAM protease in C. elegans.
2005-04-01

Defective protein glycosylation in patients with cutis laxa syndrome.

Ron A. Wevers
2005-07-21

Patients with unsolved congenital disorders of glycosylation type II can be subdivided in six distinct biochemical groups.

Ron A. Wevers
2005-10-01

Altered glycan structures: the molecular basis of congenital disorders of glycosylation

Hudson H. Freeze, Markus Aebi
2005-10

Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase

Bernard Henrissat
2005-07-21

Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia

Rita Barone, Marco Zaffanello, Domenico Garozzo
2005-09-01

An updated review of the long-term neurological effects of galactosemia

Donald L. Gilbert
2005-11-01

Variable site-occupancy classification of N-linked glycosylation using artificial neural networks

Muhammad Karim
2005-07-25

Controlling N-linked glycan site occupancy

Michael J Betenbaugh
2005-05-29

Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations

Stephanie Boisson-Dupuis, Alexandre Alcais, Laurent Abel, David N. Cooper, Jean-Laurent Casanova, Nadia Chuzhanova, Mehdi Mirsaeidi, Jacinta Bustamante, Ariane Chapgier, Soheila Khalilzadeh, Guillaume Vogt, Claire Soudais, Davood Mansouri, Oscar de la Calle-Martin, Jennifer M Puck, Hans D. Ochs, Claire Fieschi
2005-04-01

Glyc-O-genetics of Walker-Warburg syndrome
2005-05-13

POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome

Luciano Merlini, Hans Scheffer, Martijn A Huynen, Hans Van Bokhoven
2005-02-01

Defective glycosaminoglycan substitution of decorin in a patient with progeroid syndrome is a direct consequence of two point mutations in the galactosyltransferase I (beta4GalT-7) gene.

Martin Götte
2005-11-01

Mice deficient in Ext2 lack heparan sulfate and develop exostoses

Zena Werb

Article - wd:Q34534962

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