Literature DB >> 21384229

Congenital disorders of glycosylation (CDG): it's (nearly) all in it!

Jaak Jaeken1.   

Abstract

Congenital disorders of glycosylation (CDG) is a booming class of metabolic diseases. Its number has increased nearly fourfold (to 45) since 2003, the year of the Komrower lecture, entitled 'Congenital disorders of glycosylation CDG): It's all in it!'. This paper presents an overview of recently discovered CDG and CDG phenotypes, of a diagnostic approach, of (the lack of) treatment, of CDG genetics, of a novel CDG nomenclature and classification, and of some future directions in the CDG field.

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Year:  2011        PMID： 21384229     DOI： 10.1007/s10545-011-9299-3

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  35 in total

1.  A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia.

Authors:  Eva Morava; Renate Zeevaert; Eckhard Korsch; Karin Huijben; Suzan Wopereis; Gert Matthijs; Kathelijn Keymolen; Dirk J Lefeber; Linda De Meirleir; Ron A Wevers
Journal:  Eur J Hum Genet       Date:  2007-03-14       Impact factor: 4.246

2.  Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation.

Authors:  Jürgen Lübbehusen; Christian Thiel; Nina Rind; Daniel Ungar; Berthil H C M T Prinsen; Tom J de Koning; Peter M van Hasselt; Christian Körner
Journal:  Hum Mol Genet       Date:  2010-07-06       Impact factor: 6.150

3.  Does Rft1 flip an N-glycan lipid precursor?

Authors:  Christian G Frank; Sumana Sanyal; Jeffrey S Rush; Charles J Waechter; Anant K Menon
Journal:  Nature       Date:  2008-07-31       Impact factor: 49.962

4.  A severe human metabolic disease caused by deficiency of the endoplasmatic mannosyltransferase hALG11 leads to congenital disorder of glycosylation-Ip.

Authors:  Nina Rind; Verena Schmeiser; Christian Thiel; Birgit Absmanner; Jürgen Lübbehusen; Julia Hocks; Neophytos Apeshiotis; Ekkehard Wilichowski; Ludwig Lehle; Christian Körner
Journal:  Hum Mol Genet       Date:  2010-01-15       Impact factor: 6.150

5.  Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.

Authors:  Uwe Kornak; Ellen Reynders; Aikaterini Dimopoulou; Jeroen van Reeuwijk; Bjoern Fischer; Anna Rajab; Birgit Budde; Peter Nürnberg; Francois Foulquier; Dirk Lefeber; Zsolt Urban; Stephanie Gruenewald; Wim Annaert; Han G Brunner; Hans van Bokhoven; Ron Wevers; Eva Morava; Gert Matthijs; Lionel Van Maldergem; Stefan Mundlos
Journal:  Nat Genet       Date:  2007-12-23       Impact factor: 38.330

6.  Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder.

Authors:  Xiaohua Wu; Richard A Steet; Ognian Bohorov; Jaap Bakker; John Newell; Monty Krieger; Leo Spaapen; Stuart Kornfeld; Hudson H Freeze
Journal:  Nat Med       Date:  2004-04-25       Impact factor: 53.440

7.  An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4.

Authors:  Kimia Kahrizi; Hossein Najmabadi; Roxana Kariminejad; Payman Jamali; Mahdi Malekpour; Masoud Garshasbi; Hans Hilger Ropers; Andreas Walter Kuss; Andreas Tzschach
Journal:  Eur J Hum Genet       Date:  2008-09-10       Impact factor: 4.246

8.  CDG nomenclature: time for a change!

Authors:  Jaak Jaeken; Thierry Hennet; Gert Matthijs; Hudson H Freeze
Journal:  Biochim Biophys Acta       Date:  2009-09

9.  Molecular and clinical characterization of a Moroccan Cog7 deficient patient.

Authors:  Bobby G Ng; Christian Kranz; E E O Hagebeuk; M Duran; N G G M Abeling; B Wuyts; Daniel Ungar; Vladimir Lupashin; C M Hartdorff; B T Poll-The; Hudson H Freeze
Journal:  Mol Genet Metab       Date:  2007-03-28       Impact factor: 4.797

Review 10.  Inherited glycosylphosphatidyl inositol deficiency: a treatable CDG.

Authors:  Antonio Almeida; Mark Layton; Anastasios Karadimitris
Journal:  Biochim Biophys Acta       Date:  2009-01-09
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  54 in total

1.  DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation.

Authors:  Melanie A Jones; Bobby G Ng; Shruti Bhide; Ephrem Chin; Devin Rhodenizer; Ping He; Marie-Estelle Losfeld; Miao He; Kimiyo Raymond; Gerard Berry; Hudson H Freeze; Madhuri R Hegde
Journal:  Am J Hum Genet       Date:  2012-02-02       Impact factor: 11.025

2.  Synthesis, Processing, and Function of N-glycans in N-glycoproteins.

Authors:  Erhard Bieberich
Journal:  Adv Neurobiol       Date:  2014

3.  Bone Dysplasia as a Key Feature in Three Patients with a Novel Congenital Disorder of Glycosylation (CDG) Type II Due to a Deep Intronic Splice Mutation in TMEM165.

Authors:  R Zeevaert; F de Zegher; L Sturiale; D Garozzo; M Smet; M Moens; G Matthijs; J Jaeken
Journal:  JIMD Rep       Date:  2012-08-22

4.  Sialic acids attached to N- and O-glycans within the Nav1.4 D1S5-S6 linker contribute to channel gating.

Authors:  Andrew R Ednie; Jean M Harper; Eric S Bennett
Journal:  Biochim Biophys Acta       Date:  2014-10-30

Review 5.  Golgi post-translational modifications and associated diseases.

Authors:  Sven Potelle; André Klein; François Foulquier
Journal:  J Inherit Metab Dis       Date:  2015-05-13       Impact factor: 4.982

6.  Mislocalization of large ARF-GEFs as a potential mechanism for BFA resistance in COG-deficient cells.

Authors:  Heather Flanagan-Steet; Steven Johnson; Richard D Smith; Julia Bangiyeva; Vladimir Lupashin; Richard Steet
Journal:  Exp Cell Res       Date:  2011-06-22       Impact factor: 3.905

7.  Abnormal Glycosylation Profile and High Alpha-Fetoprotein in a Patient with Twinkle Variants.

Authors:  Juliette Bouchereau; Sandrine Vuillaumier Barrot; Thierry Dupré; Stuart E H Moore; Ruxandra Cardas; Yline Capri; Pauline Gaignard; Abdelhamid Slama; Catherine Delanoë; Hélène Ogier de Baulny; Nathalie Seta; Manuel Schiff; Laurent Servais
Journal:  JIMD Rep       Date:  2016-02-27

Review 8.  Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases.

Authors:  F Lamari; F Mochel; F Sedel; J M Saudubray
Journal:  J Inherit Metab Dis       Date:  2012-07-20       Impact factor: 4.982

9.  A glycogene mutation map for discovery of diseases of glycosylation.

Authors:  Lars Hansen; Allan Lind-Thomsen; Hiren J Joshi; Nis Borbye Pedersen; Christian Theil Have; Yun Kong; Shengjun Wang; Thomas Sparso; Niels Grarup; Malene Bech Vester-Christensen; Katrine Schjoldager; Hudson H Freeze; Torben Hansen; Oluf Pedersen; Bernard Henrissat; Ulla Mandel; Henrik Clausen; Hans H Wandall; Eric P Bennett
Journal:  Glycobiology       Date:  2014-09-28       Impact factor: 4.313

10.  Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.

Authors:  Malcolm F Howard; Yoshiko Murakami; Alistair T Pagnamenta; Cornelia Daumer-Haas; Björn Fischer; Jochen Hecht; David A Keays; Samantha J L Knight; Uwe Kölsch; Ulrike Krüger; Steffen Leiz; Yusuke Maeda; Daphne Mitchell; Stefan Mundlos; John A Phillips; Peter N Robinson; Usha Kini; Jenny C Taylor; Denise Horn; Taroh Kinoshita; Peter M Krawitz
Journal:  Am J Hum Genet       Date:  2014-01-16       Impact factor: 11.025
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