COG defects, birth and rise!

被引：56

作者：

Foulquier, Francois ^{[1
,2
]}

机构：

[1] Univ Sci & Technol Lille, Unite Glycobiol Struct & Fonct, UMR CNRS 8576, IFR147, Lille, France

[2] Catholic Univ Louvain, Ctr Human Genet, B-3000 Louvain, Belgium

来源：

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE | 2009年 / 1792卷 / 09期

关键词：

COG; CDG; Glycosylation; Golgi; Trafficking; CONGENITAL DISORDER; DEFICIENCY REVEALS; PROTEIN COMPLEX; GOLGI; GLYCOSYLATION; TRANSPORT; GENE; ORGANIZATION; MUTATION; MUTANTS;

D O I：

10.1016/j.bbadis.2008.10.020

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

The COG complex is a cytosolic heteromeric Golgi complex constituted of 8 subunits (Cog1 to Cog8) and involved in retrograde vesicular Golgi trafficking. The involvement of this complex in glycosylation and more specifically in Golgi glycosyltransferases localization has been highlighted with the discovery of COG subunit deficiencies leading to CDG (Congenital Disorders of Glycosylation), a group of inherited disorders of glycosylation. To date, many COG deficient CDG patients have been discovered and this article reviews the birth and rise of this group of defects. The architecture of the COG complex and its cellular functions in Golgi trafficking and Golgi glycosylation are discussed. (C) 2008 Elsevier B.V. All rights reserved.

引用

页码：896 / 902

页数：7

共 37 条

[11] Congenital disorders of glycosylation (CDG): It's all in it! [J].

Jaeken, J .

JOURNAL OF INHERITED METABOLIC DISEASE, 2003, 26 (02) :99-118

[12] 3 TYPES OF LOW-DENSITY-LIPOPROTEIN RECEPTOR-DEFICIENT MUTANT HAVE PLEIOTROPIC DEFECTS IN THE SYNTHESIS OF N-LINKED, O-LINKED, AND LIPID-LINKED CARBOHYDRATE CHAINS [J].

KINGSLEY, DM ;

KOZARSKY, KF ;

SEGAL, M ;

KRIEGER, M .

JOURNAL OF CELL BIOLOGY, 1986, 102 (05) :1576-1585

[13] BREFELDIN-A - INSIGHTS INTO THE CONTROL OF MEMBRANE TRAFFIC AND ORGANELLE STRUCTURE [J].

KLAUSNER, RD ;

DONALDSON, JG ;

LIPPINCOTTSCHWARTZ, J .

JOURNAL OF CELL BIOLOGY, 1992, 116 (05) :1071-1080

[14] Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2 [J].

Kornak, Uwe ;

Reynders, Ellen ;

Dimopoulou, Aikaterini ;

van Reeuwijk, Jeroen ;

Fischer, Bjoern ;

Rajab, Anna ;

Budde, Birgit ;

Nurnberg, Peter ;

Foulquier, Francois ;

Lefeber, Dirk ;

Urban, Zsolt ;

Gruenewald, Stephanie ;

Annaert, Wim ;

Brunner, Han G. ;

van Bokhoven, Hans ;

Wevers, Ron ;

Morava, Eva ;

Matthijs, Gert ;

Van Maldergem, Lionel ;

Mundlos, Stefan .

NATURE GENETICS, 2008, 40 (01) :32-34

[15] COG8 deficiency causes new congenital disorder of glycosylation type IIh [J].

Kranz, Christian ;

Ng, Bobby G. ;

Sun, Liangwu ;

Sharma, Vandana ;

Eklund, Erik A. ;

Miura, Yoshiaki ;

Ungar, Daniel ;

Lupashin, Vladimir ;

Winkel, R. Dennis ;

Cipollo, John F. ;

Costello, Catherine E. ;

Loh, Eva ;

Hong, Wanjin ;

Freeze, Hudson H. .

HUMAN MOLECULAR GENETICS, 2007, 16 (07) :731-741

[16] ISOLATION OF CHINESE-HAMSTER CELL MUTANTS DEFECTIVE IN THE RECEPTOR-MEDIATED ENDOCYTOSIS OF LOW-DENSITY LIPOPROTEIN [J].

KRIEGER, M ;

BROWN, MS ;

GOLDSTEIN, JL .

JOURNAL OF MOLECULAR BIOLOGY, 1981, 150 (02) :167-184

[17] The binary interacting network of the conserved oligomeric Golgi tethering complex [J].

Loh, E ;

Hong, WJ .

JOURNAL OF BIOLOGICAL CHEMISTRY, 2004, 279 (23) :24640-24648

[18] Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency [J].

Lübke, T ;

Marquardt, T ;

Etzioni, A ;

Hartmann, E ;

von Figura, K ;

Körner, C .

NATURE GENETICS, 2001, 28 (01) :73-76

[19] Genetic complementation reveals a novel human congenital disorder of glycosylation of type II, due to inactivation of the Golgi CMP-sialic acid transporter [J].

Martinez-Duncker, I ;

Dupré, T ;

Piller, V ;

Piller, F ;

Candelier, JJ ;

Trichet, C ;

Tchernia, G ;

Oriol, R ;

Mollicone, R .

BLOOD, 2005, 105 (07) :2671-2676

[20] ACIDIFICATION OF THE ENDOCYTIC AND EXOCYTIC PATHWAYS [J].

MELLMAN, I ;

FUCHS, R ;

HELENIUS, A .

ANNUAL REVIEW OF BIOCHEMISTRY, 1986, 55 :663-700

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