NDLI: Golgi function and dysfunction in the first COG4-deficient CDG type II patient

Content Provider	PubMed Central
Author	Reynders, Ellen Foulquier, François Teles, Elisa Leão Quelhas, Dulce Morelle, Willy Rabouille, Cathérine Annaert, Wim Matthijs, Gert
Abstract	The conserved oligomeric Golgi (COG) complex is a hetero-octameric complex essential for normal glycosylation and intra-Golgi transport. An increasing number of congenital disorder of glycosylation type II (CDG-II) mutations are found in COG subunits indicating its importance in glycosylation. We report a new CDG-II patient harbouring a p.R729W missense mutation in COG4 combined with a submicroscopical deletion. The resulting downregulation of COG4 expression additionally affects expression or stability of other lobe A subunits. Despite this, full complex formation was maintained albeit to a lower extent as shown by glycerol gradient centrifugation. Moreover, our data indicate that subunits are present in a cytosolic pool and full complex formation assists tethering preceding membrane fusion. By extending this study to four other known COG-deficient patients, we now present the first comparative analysis on defects in transport, glycosylation and Golgi ultrastructure in these patients. The observed structural and biochemical abnormalities correlate with the severity of the mutation, with the COG4 mutant being the mildest. All together our results indicate that intact COG complexes are required to maintain Golgi dynamics and its associated functions. According to the current CDG nomenclature, this newly identified deficiency is designated CDG-IIj.
Related Links	http://dx.doi.org/10.1093/hmg/ddp262
Ending Page	3256
Page Count	13
Starting Page	3244
File Format	PDF
ISSN	09646906
e-ISSN	14602083
Journal	Human Molecular Genetics
Issue Number	17
Volume Number	18
Language	English
Publisher	Oxford University Press
Publisher Date	2009-09-01
Access Restriction	Open
Rights Holder	Oxford University Press
Subject Keyword	Genetics(clinical) Genetics Molecular Biology Research in Higher Education
Content Type	Text
Resource Type	Article
Subject	Genetics Molecular Biology Genetics (clinical)

Sl.	Authority	Responsibilities	Communication Details
1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
2	Indian Institute of Technology Kharagpur	Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project	https://www.iitkgp.ac.in
3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
5	Website/Portal (Helpdesk)	Queries regarding NDLI and its services	support@ndl.gov.in
6	Contents and Copyright Issues	Queries related to content curation and copyright issues	content@ndl.gov.in
7	National Digital Library of India Club (NDLI Club)	Queries related to NDLI Club formation, support, user awareness program, seminar/symposium, collaboration, social media, promotion, and outreach	clubsupport@ndl.gov.in
8	Digital Preservation Centre (DPC)	Assistance with digitizing and archiving copyright-free printed books	dpc@ndl.gov.in
9	IDR Setup or Support	Queries related to establishment and support of Institutional Digital Repository (IDR) and IDR workshops	idr@ndl.gov.in

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

Carbohydrate deficient glycoprotein (CDG) syndrome type I.

Normal transferrin patterns in congenital disorders of glycosylation with Golgi homeostasis disruption: apolipoprotein C-III at the rescue!

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

Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin pattern

Identification of the first COG-CDG patient of Indian Origin

MAN1B1 Deficiency: An Unexpected CDG-II

COG5-CDG: expanding the clinical spectrum

Deficiency of the Cog8 Subunit in Normal and CDG-Derived Cells Impairs the Assembly of the COG and Golgi SNARE Complexes

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

Similar Documents

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

Carbohydrate deficient glycoprotein (CDG) syndrome type I.

Normal transferrin patterns in congenital disorders of glycosylation with Golgi homeostasis disruption: apolipoprotein C-III at the rescue!

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

Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin pattern

Identification of the first COG-CDG patient of Indian Origin

MAN1B1 Deficiency: An Unexpected CDG-II

COG5-CDG: expanding the clinical spectrum

Deficiency of the Cog8 Subunit in Normal and CDG-Derived Cells Impairs the Assembly of the COG and Golgi SNARE Complexes

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