Associated Papers
Getting Sugar Coating Right! The Role of the Golgi Trafficking Machinery in Glycosylation.
D'Souza Z et al.
Cells, 2021
Skeletal and Bone Mineral Density Features, Genetic Profile in Congenital Disorders of Glycosylation: Review.
Lipiński P et al.
Diagnostics (basel, Switzerland), 2021
Golgi inCOGnito: From vesicle tethering to human disease.
D'Souza Z et al.
Biochimica Et Biophysica Acta. General Subjects, 2020
Maintaining order: COG complex controls Golgi trafficking, processing, and sorting.
Blackburn JB et al.
Febs Letters, 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
COG7 deficiency in Drosophila generates multifaceted developmental, behavioral and protein glycosylation phenotypes.
Frappaolo A et al.
Journal of Cell Science, 2017
Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation.
Jones MA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2011
Deficiencies in subunits of the Conserved Oligomeric Golgi (COG) complex define a novel group of Congenital Disorders of Glycosylation.
Zeevaert R et al.
Molecular Genetics and Metabolism, 2008
A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia.
Morava E et al.
European Journal of Human Genetics : Ejhg, 2007
Molecular and clinical characterization of a Moroccan Cog7 deficient patient.
Ng BG et al.
Molecular Genetics and Metabolism, 2007
Transferrin and apolipoprotein C-III isofocusing are complementary in the diagnosis of N- and O-glycan biosynthesis defects.
Wopereis S et al.
Clinical Chemistry, 2007
Clinical and biochemical presentation of siblings with COG-7 deficiency, a lethal multiple O- and N-glycosylation disorder.
Spaapen LJ et al.
Journal of Inherited Metabolic Disease, 2005
Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder.
Wu X et al.
Nature Medicine, 2004
A new mutation in COG7 extends the spectrum of COG subunit deficiencies.
Zeevaert R et al.
European Journal of Medical Genetics, 0
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