Associated Papers
COG Complex in Golgi Trafficking and Glycosylation.
Sumya FT et al.
Sub-cellular Biochemistry, 2026
COG6-related prenatal phenotype (CDG2L): Clinico-pathological report and review of the literature.
Guterman S et al.
Molecular Genetics & Genomic Medicine, 2025
The Swedish COG6-CDG experience and a comprehensive literature review.
Xia ZJ et al.
Jimd Reports, 2023
COG6-CDG: Novel variants and novel malformation.
Cirnigliaro L et al.
Birth Defects Research, 2022
Getting Sugar Coating Right! The Role of the Golgi Trafficking Machinery in Glycosylation.
D'Souza Z et al.
Cells, 2021
Genetic analysis and prenatal diagnosis in a Chinese with growth retardation, abnormal liver function, and microcephaly.
Zhao P et al.
Molecular Genetics & Genomic Medicine, 2021
Disorder of sex development associated with a novel homozygous nonsense mutation in COG6 expands the phenotypic spectrum of COG6-CDG.
Lugli L et al.
American Journal of Medical Genetics. Part A, 2021
Golgi inCOGnito: From vesicle tethering to human disease.
D'Souza Z et al.
Biochimica Et Biophysica Acta. General Subjects, 2020
Neonatal presentation of COG6-CDG with prominent skin phenotype.
Komlosi K et al.
Jimd Reports, 2020
Sugary Logistics Gone Wrong: Membrane Trafficking and Congenital Disorders of Glycosylation.
Linders PTA et al.
International Journal of Molecular Sciences, 2020
Maintaining order: COG complex controls Golgi trafficking, processing, and sorting.
Blackburn JB et al.
Febs Letters, 2019
Compound heterozygous variants of the COG6 gene in a Chinese patient with deficiency of subunit 6 of the conserved oligomeric Golgi complex (COG6-CDG).
Li G et al.
European Journal of Medical Genetics, 2019
Single-center experience of N-linked Congenital Disorders of Glycosylation with a Summary of Molecularly Characterized Cases in Arabs.
Bastaki F et al.
Annals of Human Genetics, 2018
Key features and clinical variability of COG6-CDG.
Rymen D et al.
Molecular Genetics and Metabolism, 2015
Expanding the clinical phenotype of COG6 deficiency.
Haijes H et al.
Journal of Medical Genetics, 2014
A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiency.
Shaheen R et al.
Journal of Medical Genetics, 2013
COG6 interacts with a subset of the Golgi SNAREs and is important for the Golgi complex integrity.
Kudlyk T et al.
Traffic (copenhagen, Denmark), 2013
Deficiency of Subunit 6 of the Conserved Oligomeric Golgi Complex (COG6-CDG): Second Patient, Different Phenotype.
Huybrechts S et al.
Jimd Reports, 2012
Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation.
Lübbehusen J et al.
Human Molecular Genetics, 2010