Literature DB >> 17395513

Molecular and clinical characterization of a Moroccan Cog7 deficient patient.

Bobby G Ng1, 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.   

Abstract

Mutations in the N-linked glycosylation pathway cause rare autosomal recessive defects known as Congenital Disorders of Glycosylation (CDG). A previously reported mutation in the Conserved Oligomeric Golgi complex gene, COG7, defined a new subtype of CDG in a Tunisian family. The mutation disrupted the hetero-octomeric COG complex and altered both N- and O-linked glycosylation. Here we present clinical and biochemical data from a second family with the same mutation.

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Year:  2007        PMID： 17395513      PMCID： PMC1941618          DOI： 10.1016/j.ymgme.2007.02.011

Source DB:  PubMed          Journal:  Mol Genet Metab        ISSN： 1096-7192            Impact factor:   4.797


  11 in total

Review 1.  Genetic defects in the human glycome.

Authors:  Hudson H Freeze
Journal:  Nat Rev Genet       Date:  2006-06-06       Impact factor: 53.242

2.  Subunit architecture of the conserved oligomeric Golgi complex.

Authors:  Daniel Ungar; Toshihiko Oka; Eliza Vasile; Monty Krieger; Frederick M Hughson
Journal:  J Biol Chem       Date:  2005-07-14       Impact factor: 5.157

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

Authors:  Toshihiko Oka; Eliza Vasile; Marsha Penman; Carl D Novina; Derek M Dykxhoorn; Daniel Ungar; Frederick M Hughson; Monty Krieger
Journal:  J Biol Chem       Date:  2005-07-28       Impact factor: 5.157

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

Authors:  François Foulquier; Eliza Vasile; Els Schollen; Nico Callewaert; Tim Raemaekers; Dulce Quelhas; Jaak Jaeken; Philippa Mills; Bryan Winchester; Monty Krieger; Wim Annaert; Gert Matthijs
Journal:  Proc Natl Acad Sci U S A       Date:  2006-02-28       Impact factor: 11.205

5.  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

6.  The COG and COPI complexes interact to control the abundance of GEARs, a subset of Golgi integral membrane proteins.

Authors:  Toshihiko Oka; Daniel Ungar; Frederick M Hughson; Monty Krieger
Journal:  Mol Biol Cell       Date:  2004-03-05       Impact factor: 4.138

Review 7.  Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies.

Authors:  T Marquardt; J Denecke
Journal:  Eur J Pediatr       Date:  2003-03-15       Impact factor: 3.183

8.  COG-7-deficient Human Fibroblasts Exhibit Altered Recycling of Golgi Proteins.

Authors:  Richard Steet; Stuart Kornfeld
Journal:  Mol Biol Cell       Date:  2006-03-01       Impact factor: 4.138

9.  The binary interacting network of the conserved oligomeric Golgi tethering complex.

Authors:  Eva Loh; Wanjin Hong
Journal:  J Biol Chem       Date:  2004-03-26       Impact factor: 5.157

10.  Characterization of a mammalian Golgi-localized protein complex, COG, that is required for normal Golgi morphology and function.

Authors:  Daniel Ungar; Toshihiko Oka; Elizabeth E Brittle; Eliza Vasile; Vladimir V Lupashin; Jon E Chatterton; John E Heuser; Monty Krieger; M Gerard Waters
Journal:  J Cell Biol       Date:  2002-04-29       Impact factor: 10.539
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  30 in total

1.  Identification of the first COG-CDG patient of Indian origin.

Authors:  Bobby G Ng; Vandana Sharma; Liangwu Sun; Eva Loh; Wanjin Hong; Stacey K H Tay; Hudson H Freeze
Journal:  Mol Genet Metab       Date:  2010-11-24       Impact factor: 4.797

Review 2.  Role of the conserved oligomeric Golgi (COG) complex in protein glycosylation.

Authors:  Richard D Smith; Vladimir V Lupashin
Journal:  Carbohydr Res       Date:  2008-02-02       Impact factor: 2.104

3.  Direct interaction between the COG complex and the SM protein, Sly1, is required for Golgi SNARE pairing.

Authors:  Orly Laufman; Amir Kedan; Wanjin Hong; Sima Lev
Journal:  EMBO J       Date:  2009-06-18       Impact factor: 11.598

4.  Conserved oligomeric Golgi complex specifically regulates the maintenance of Golgi glycosylation machinery.

Authors:  Irina D Pokrovskaya; Rose Willett; Richard D Smith; Willy Morelle; Tetyana Kudlyk; Vladimir V Lupashin
Journal:  Glycobiology       Date:  2011-03-18       Impact factor: 4.313

Review 5.  Congenital disorders of glycosylation (CDG): it's (nearly) all in it!

Authors:  Jaak Jaeken
Journal:  J Inherit Metab Dis       Date:  2011-03-08       Impact factor: 4.982

6.  Deficiency of Subunit 6 of the Conserved Oligomeric Golgi Complex (COG6-CDG): Second Patient, Different Phenotype.

Authors:  S Huybrechts; C De Laet; P Bontems; S Rooze; H Souayah; Y Sznajer; L Sturiale; D Garozzo; G Matthijs; A Ferster; J Jaeken; P Goyens
Journal:  JIMD Rep       Date:  2011-11-02

Review 7.  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

8.  PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia.

Authors:  Asbjørg Stray-Pedersen; Paul H Backe; Hanne S Sorte; Lars Mørkrid; Niti Y Chokshi; Hans Christian Erichsen; Tomasz Gambin; Katja B P Elgstøen; Magnar Bjørås; Marcin W Wlodarski; Marcus Krüger; Shalini N Jhangiani; Donna M Muzny; Ankita Patel; Kimiyo M Raymond; Ghadir S Sasa; Robert A Krance; Caridad A Martinez; Shirley M Abraham; Carsten Speckmann; Stephan Ehl; Patricia Hall; Lisa R Forbes; Else Merckoll; Jostein Westvik; Gen Nishimura; Cecilie F Rustad; Tore G Abrahamsen; Arild Rønnestad; Liv T Osnes; Torstein Egeland; Olaug K Rødningen; Christine R Beck; Eric A Boerwinkle; Richard A Gibbs; James R Lupski; Jordan S Orange; Ekkehart Lausch; I Celine Hanson
Journal:  Am J Hum Genet       Date:  2014-06-12       Impact factor: 11.025

9.  Comparative analyses of the Conserved Oligomeric Golgi (COG) complex in vertebrates.

Authors:  Rita Quental; Luísa Azevedo; Rune Matthiesen; António Amorim
Journal:  BMC Evol Biol       Date:  2010-07-15       Impact factor: 3.260

10.  Golgi function and dysfunction in the first COG4-deficient CDG type II patient.

Authors:  Ellen Reynders; François Foulquier; Elisa Leão Teles; Dulce Quelhas; Willy Morelle; Cathérine Rabouille; Wim Annaert; Gert Matthijs
Journal:  Hum Mol Genet       Date:  2009-06-03       Impact factor: 6.150
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